Please enable JavaScript
IKMB: Blood Group DB

Kell > KEL


Genetic changes
Quick Filter:
nt change aa change Location hg19 hg38 rsNum
c.71G>A p.Trp24Ter Exon 2 chr7:142658892 chr7:142961805 rs753369164
c.160_161delATinsCTCC p.Ile54Leufs*136 Exon 3 chr7:142658509 chr7:142961422
c.184delT p.Ser62Leufs*127 Exon 3 chr7:142658486 chr7:142961399
c.184_185insT p.Ser62Phefs*17 Exon 3 chr7:142658485 chr7:142961398 rs751207765
c.201C>A p.Tyr67Ter Exon 3 chr7:142658469 chr7:142961382
c.223+1G>C p.Ser28Alafs*113 Intron 3 chr7:142658446 chr7:142961359 rs369569464
c.223+1G>T p.Ser28Alafs*113 Intron 3 chr7:142658446 chr7:142961359 rs369569464
c.223+1G>A p.Ser28Alafs*113 Intron 3 chr7:142658446 chr7:142961359 rs369569464
c.230G>T p.Cys77Phe Exon 4 chr7:142658185 chr7:142961098
c.244T>C p.Cys82Arg Exon 4 chr7:142658171 chr7:142961084 rs369127636
c.246T>A p.Cys82Ter Exon 4 chr7:142658169 chr7:142961082 rs61729058
c.257G>A p.Arg86Gln Exon 4 chr7:142658158 chr7:142961071 rs777011308
c.267C>G p.Tyr89Ter Exon 4 chr7:142658148 chr7:142961061 rs879327552
c.299G>C p.Cys100Ser Exon 4 chr7:142658116 chr7:142961029 rs200268316
c.306C>A p.Asp102Glu Exon 4 chr7:142658109 chr7:142961022 rs758637202
c.328delA p.Arg110Glyfs*79 Exon 4 chr7:142658087 chr7:142961000
c.371delA p.Lys124Argfs*65 Exon 4 chr7:142658044 chr7:142960957
c.382C>T p.Arg128Ter Exon 4 chr7:142658033 chr7:142960946 rs61729053
c.388C>T p.Arg130Trp Exon 4 chr7:142658027 chr7:142960940 rs184131044
c.389G>A p.Arg130Gln Exon 4 chr7:142658026 chr7:142960939 rs201110152
c.398T>C p.Leu133Pro Exon 4 chr7:142658017 chr7:142960930
c.436delG p.Glu146Argfs*43 Exon 5 chr7:142655480 chr7:142958393 rs762799244
c.455A>G p.Tyr152Cys Exon 5 chr7:142655461 chr7:142958374 rs1228818924
c.481A>T p.Ile161Phe Exon 5 chr7:142655435 chr7:142958348
c.526-2A>G p.Leu176Alafs*9 Intron 5 chr7:142655062 chr7:142957975
c.538C>T p.Arg180Cys Exon 6 chr7:142655048 chr7:142957961 rs747437444
c.539G>A p.Arg180His Exon 6 chr7:142655047 chr7:142957960 rs61729039
c.539G>C p.Arg180Pro Exon 6 chr7:142655047 chr7:142957960 rs61729039
c.574C>T p.Arg192Ter Exon 6 chr7:142655012 chr7:142957925 rs200430183
c.575G>A p.Arg192Gln Exon 6 chr7:142655011 chr7:142957924 rs754663945
c.575G>C p.Arg192Pro Exon 6 chr7:142655011 chr7:142957924 rs754663945
c.577A>T p.Thr193Ser Exon 6 chr7:142655009 chr7:142957922 rs61729031
c.578C>T p.Thr193Met Exon 6 chr7:142655008 chr7:142957921 rs8176058
c.578C>G p.Thr193Arg Exon 6 chr7:142655008 chr7:142957921 rs8176058
c.586C>G p.Leu196Val Exon 6 chr7:142655000 chr7:142957913 rs760539605
c.712C>T p.Gln238Ter Exon 7 chr7:142651575 chr7:142954488 rs753948889
c.715G>T p.Glu239Ter Exon 7 chr7:142651572 chr7:142954485 rs766427535
c.730delG p.Ala244Profs*8 Exon 7 chr7:142651557 chr7:142954470
c.736-1G>C Intron 7 chr7:142651460 chr7:142954373 rs765075509
c.742C>T p.Arg248Trp Exon 8 chr7:142651453 chr7:142954366 rs61728832
c.743G>A p.Arg248Gln Exon 8 chr7:142651452 chr7:142954365 rs61729040
c.745G>A p.Glu249Lys Exon 8 chr7:142651450 chr7:142954363 rs61729042
c.758A>G p.Tyr253Cys Exon 8 chr7:142651437 chr7:142954350
c.780G>T p.Leu260Phe Exon 8 chr7:142651415 chr7:142954328 rs1235779167
c.787G>A p.Gly263Arg Exon 8 chr7:142651408 chr7:142954321
c.788G>A p.Gly263Glu Exon 8 chr7:142651407 chr7:142954320 rs775889759
c.841C>T p.Arg281Trp Exon 8 chr7:142651354 chr7:142954267 rs8176059
c.842G>A p.Arg281Gln Exon 8 chr7:142651353 chr7:142954266 rs61729036
c.875G>A p.Arg292Gln Exon 8 chr7:142651320 chr7:142954233 rs201698610
c.877C>T p.Arg293Trp Exon 8 chr7:142651318 chr7:142954231 rs557358978
c.903delG p.Val302Serfs*28 Exon 8 chr7:142651292 chr7:142954205 rs61729059
c.905T>C p.Val302Ala Exon 8 chr7:142651290 chr7:142954203 rs61729034
c.913G>A p.Asp305Asn Exon 8 chr7:142651282 chr7:142954195 rs61729044
c.924+1G>T Intron 8 chr7:142651270 chr7:142954183 rs568600999
c.924+1G>A Intron 8 chr7:142651270 chr7:142954183 rs568600999
c.937G>A p.Ala313Thr Exon 9 chr7:142651031 chr7:142953944 rs191311545
c.948G>A p.Trp316Ter Exon 9 chr7:142651020 chr7:142953933 rs61729049
c.965C>T p.Ala322Val Exon 9 chr7:142651003 chr7:142953916 rs61729037
c.977C>T p.Pro326Leu Exon 9 chr7:142650991 chr7:142953904 rs751284993
c.986T>C p.Leu329Pro Exon 9 chr7:142650982 chr7:142953895 rs61729057
c.997C>T p.Gln333Ter Exon 9 chr7:142650971 chr7:142953884
c.1042C>T p.Gln348Ter Exon 9 chr7:142650926 chr7:142953839 rs61729054
c.1073G>C p.Arg358Thr Exon 9 chr7:142650895 chr7:142953808
c.1084C>A p.Gln362Lys Exon 10 chr7:142649715 chr7:142952628 rs766310210
c.1088G>A p.Ser363Asn Exon 10 chr7:142649711 chr7:142952624 rs61729055
c.1145A>G p.Gln382Arg Exon 10 chr7:142649654 chr7:142952567 rs61729038
c.1216C>T p.Arg406Ter Exon 11 chr7:142643392 chr7:142946305 rs61729045
c.1217G>A p.Arg406Gln Exon 11 chr7:142643391 chr7:142946304 rs61729041
c.1253T>C p.Phe418Ser Exon 11 chr7:142643355 chr7:142946268 rs149225200
c.1268C>T p.Ala423Val Exon 11 chr7:142643340 chr7:142946253 rs61728831
c.1271C>T p.Ala424Val Exon 11 chr7:142643337 chr7:142946250 rs779011501
c.1283G>T p.Arg428Leu Exon 11 chr7:142643325 chr7:142946238 rs750806448
c.1298C>T p.Pro433Leu Exon 11 chr7:142643310 chr7:142946223 rs143238294
c.1314+5G>A Intron 11 chr7:142643289 chr7:142946202
c.1896-1897delCT p.Leu633Argfs*50 Exon 17 chr7:142641904 chr7:142944817
c.1339C>T p.Arg447Trp Exon 12 chr7:142641804 chr7:142944717 rs142604829
c.1377G>A p.Trp459Ter Exon 12 chr7:142641766 chr7:142944679 rs61729052
c.1382_1385del4 p.Asn461Argfs*25 Exon 12 chr7:142641758 chr7:142944671
c.1391C>T p.Thr464Ile Exon 12 chr7:142641752 chr7:142944665 rs190890637
c.1414-1G>C Intron 12 chr7:142641488 chr7:142944401 rs906814829
c.1420C>T p.Gln474Ter Exon 13 chr7:142641481 chr7:142944394 rs61729056
c.1474C>T p.Arg492TER Exon 13 chr7:142641427 chr7:142944340 rs932456335
c.1475G>A p.Arg492Gln Exon 13 chr7:142641426 chr7:142944339 rs61729035
c.1477C>T p.Gln493Ter Exon 13 chr7:142641424 chr7:142944337 rs61729050
c.1481A>T p.Glu494Val Exon 13 chr7:142641420 chr7:142944333 rs61729032
c.1490A>T p.Asp497Val Exon 13 chr7:142641411 chr7:142944324 rs1286534156
c.1546C>A p.Arg516Arg Exon 14 chr7:142640916 chr7:142943829 rs8176034
c.1546C>T p.Arg516Ter Exon 14 chr7:142640916 chr7:142943829 rs8176034
c.1596G>A p.Trp532Ter Exon 15 chr7:142640680 chr7:142943593
c.1643A>G p.His548Arg Exon 15 chr7:142640633 chr7:142943546 rs61729033
c.1664G>A p.Gly555Glu Exon 15 chr7:142640612 chr7:142943525
c.1664G>T p.Gly555Val Exon 15 chr7:142640612 chr7:142943525
c.1678C>G p.Pro560Ala Exon 15 chr7:142640598 chr7:142943511 rs61729046
c.1680A>C p.Pro560Pro Exon 15 chr7:142640596 chr7:142943509 rs8176036
c.1708G>A p.Val570Met Exon 16 chr7:142640426 chr7:142943339 rs766803262
c.1719C>T p.Gly573Gly Exon 16 chr7:142640415 chr7:142943328 rs145850557
c.1726G>C p.Gly576Arg Exon 16 chr7:142640408 chr7:142943321 rs201778033
c.1757T>G p.Ile586Ser Exon 16 chr7:142640377 chr7:142943290
c.1763A>G p.Tyr588Cys Exon 16 chr7:142640371 chr7:142943284 rs61729048
c.1771+1G>A Intron 16 chr7:142640362 chr7:142943275 rs869025768
c.1790T>C p.Leu597Pro Exon 17 chr7:142640113 chr7:142943026 rs8176038
c.1813_1814insC p.Gln605Profs*18 Exon 17 chr7:142640089 chr7:142943002
c.1832T>G p.Leu611Arg Exon 17 chr7:142640071 chr7:142942984
c.1868G>A p.Arg623Lys Exon 17 chr7:142640035 chr7:142942948 rs61729043
c.1899A>G p.Leu633Leu Exon 17 chr7:142640004 chr7:142942917 rs8176039
c.1920G>C p.Gly640Gly Exon 17 chr7:142639983 chr7:142942896 rs542976466
c.1921G>A p.Gly641Arg Exon 17 chr7:142639982 chr7:142942895
c.1934C>T p.Ala645Val Exon 17 chr7:142639969 chr7:142942882 rs147851584
c.1947C>G p.Tyr649Ter Exon 18 chr7:142639611 chr7:142942524 rs902425813
c.1975delG p.Glu659Argfs*22 Exon 18 chr7:142639583 chr7:142942496 rs1042359399
c.2023C>T p.Arg675Ter Exon 18 chr7:142639535 chr7:142942448 rs61729047
c.2024G>A p.Arg675Gln Exon 18 chr7:142639534 chr7:142942447 rs760716472
c.2027G>A p.Ser676Asn Exon 18 chr7:142639531 chr7:142942444 rs61729051
c.2030A>G p.Tyr677Cys Exon 18 chr7:142639528 chr7:142942441 rs147464117
c.2098C>T p.Arg700Ter Exon 19 chr7:142638440 chr7:142941353 rs565926203
c.2099G>A p.Arg700Gln Exon 19 chr7:142638439 chr7:142941352 rs1268359042
c.2107G>C p.Gly703Arg Exon 19 chr7:142638431 chr7:142941344 rs191330570
c.2107G>A p.Gly703Arg Exon 19 chr7:142638431 chr7:142941344 rs191330570
c.2111C>A p.Pro704His Exon 19 chr7:142638427 chr7:142941340 rs747806266
c.2120delG p.Ser707Thrfs*17 Exon 19 chr7:142638418 chr7:142941331
c.2175delC p.Ser726Profs*43 Exon 19 chr7:142638363 chr7:142941276 rs369569464

Kell metallo-endopeptidase
Chromosome:chr7
Strand:-
Genomic ref.:NG_007492.3
Transcript ref.:NM_000420.3
Protein ref.: NP_000411.1
Entrez GeneID:3792
Uniprot ID:P23276
Further links:GTEx Portal, gnomAD
hg19:
ExonsStartEndCDS StartCDS End
19 142638200 142659503 142638338 142659293
hg38:
ExonsStartEndCDS StartCDS End
19 142941113 142962363 142941251 142962206
Exon hg19 start hg19 end hg38 start hg38 end
1 142659290 142659450 142962203 142962363
10 142649595 142649725 142952508 142952638
11 142643293 142643404 142946206 142946317
12 142641729 142641828 142944642 142944741
13 142641409 142641487 142944322 142944400
14 142640869 142640970 142943782 142943883
15 142640572 142640683 142943485 142943596
16 142640362 142640430 142943275 142943343
17 142639961 142640131 142942874 142943044
18 142639520 142639616 142942433 142942529
19 142638200 142638500 142941113 142941413
2 142658881 142658959 142961794 142961872
3 142658446 142658588 142961359 142961501
4 142658014 142658191 142960927 142961104
5 142655390 142655515 142958303 142958428
6 142654913 142655060 142957826 142957973
7 142651551 142651614 142954464 142954527
8 142651270 142651459 142954183 142954372
9 142650894 142651043 142953807 142953956