UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50625442_50625453del | CA913088702 | ARSA | c.1222_1233del (p.Ser408_Thr411del) c.964_975del (p.Ser322_Thr325del) c.90_101del c.1119_1130del (p.Val374_Leu377del) c.1336_1347del (p.Ser446_Thr449del) | |
| 22 | g.50625442_50625453delinsAGTGGTATCACT | CA2410958482 | ARSA | c.1222_1233delinsAGTGATACCACT (p.Ser408=) c.964_975delinsAGTGATACCACT (p.Ser322=) c.90_101delinsAGTGATACCACT c.1119_1130delinsAGTGATACCACT (p.Thr373=) c.1336_1347delinsAGTGATACCACT (p.Ser446=) | |
| 22 | g.50625443_50625452delinsGTGGTATCAC | CA2410958484 | ARSA | c.1223_1232delinsGTGATACCAC (p.Ser408=) c.965_974delinsGTGATACCAC (p.Ser322=) c.91_100delinsGTGATACCAC c.1120_1129delinsGTGATACCAC (p.Val374=) c.1337_1346delinsGTGATACCAC (p.Ser446=) | |
| 22 | g.50625447_50625457del | CA658824683 | ARSA | c.1222_1232del (p.Ser408CysfsTer15) c.964_974del (p.Ser322CysfsTer15) c.90_100del c.1119_1129del (p.Val374AlafsTer?) c.1336_1346del (p.Ser446CysfsTer15) | ClinVar dbSNP |
| 22 | g.50625446_50625454del | CA278488 | ARSA | c.1223_1231del (p.Ser408_Thr410del) c.965_973del (p.Ser322_Thr324del) c.91_99del c.1120_1128del (p.Val374_Pro376del) c.1337_1345del (p.Ser446_Thr448del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625452C>A | CA412169508 | ARSA | c.1223G>T (p.Ser408Ile) c.965G>T (p.Ser322Ile) c.91G>T c.1120G>T (p.Val374Leu) c.1337G>T (p.Ser446Ile) | |
| 22 | g.50625452C= | CA2410958488 | ARSA | c.1223G= (p.Ser408=) c.965G= (p.Ser322=) c.91G= c.1120G= (p.Val374=) c.1337G= (p.Ser446=) | |
| 22 | g.50625452C>G | CA412169510 | ARSA | c.1223G>C (p.Ser408Thr) c.965G>C (p.Ser322Thr) c.91G>C c.1120G>C (p.Val374Leu) c.1337G>C (p.Ser446Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625452C>T | CA10324762 | ARSA | c.1223G>A (p.Ser408Asn) c.965G>A (p.Ser322Asn) c.91G>A c.1120G>A (p.Val374Met) c.1337G>A (p.Ser446Asn) | ClinVar dbSNP ExAC gnomAD v2 |
| 22 | g.50625453T>A | CA412169512 | ARSA | c.1222A>T (p.Ser408Cys) c.964A>T (p.Ser322Cys) c.90A>T c.1119A>T (p.Thr373=) c.1336A>T (p.Ser446Cys) | |
| 22 | g.50625453T>C | CA218992 | ARSA | c.1222A>G (p.Ser408Gly) c.964A>G (p.Ser322Gly) c.90A>G c.1119A>G (p.Thr373=) c.1336A>G (p.Ser446Gly) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625453T>G | CA412169516 | ARSA | c.1222A>C (p.Ser408Arg) c.964A>C (p.Ser322Arg) c.90A>C c.1119A>C (p.Thr373=) c.1336A>C (p.Ser446Arg) | |
| 22 | g.50625453T= | CA2410958489 | ARSA | c.1222A= (p.Ser408=) c.964A= (p.Ser322=) c.90A= c.1119A= (p.Thr373=) c.1336A= (p.Ser446=) | |
| 22 | g.50625454G>A | CA515391358 | ARSA | c.1221C>T (p.His407=) c.963C>T (p.His321=) c.89C>T c.1118C>T (p.Thr373Ile) c.1335C>T (p.His445=) | |
| 22 | g.50625454G>C | CA412169518 | ARSA | c.1221C>G (p.His407Gln) c.963C>G (p.His321Gln) c.89C>G c.1118C>G (p.Thr373Arg) c.1335C>G (p.His445Gln) | |
| 22 | g.50625454G>T | CA412169519 | ARSA | c.1221C>A (p.His407Gln) c.963C>A (p.His321Gln) c.89C>A c.1118C>A (p.Thr373Lys) c.1335C>A (p.His445Gln) | |
| 22 | g.50625455T>A | CA412169526 | ARSA | c.1220A>T (p.His407Leu) c.962A>T (p.His321Leu) c.88A>T c.1117A>T (p.Thr373Ser) c.1334A>T (p.His445Leu) | |
| 22 | g.50625455T>C | CA412169529 | ARSA | c.1220A>G (p.His407Arg) c.962A>G (p.His321Arg) c.88A>G c.1117A>G (p.Thr373Ala) c.1334A>G (p.His445Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625455T>G | CA412169524 | ARSA | c.1220A>C (p.His407Pro) c.962A>C (p.His321Pro) c.88A>C c.1117A>C (p.Thr373Pro) c.1334A>C (p.His445Pro) | |
| 22 | g.50625455T= | CA2410958490 | ARSA | c.1220A= (p.His407=) c.962A= (p.His321=) c.88A= c.1117A= (p.Thr373=) c.1334A= (p.His445=) | |
| 22 | g.50625456G>A | CA412169531 | ARSA | c.1219C>T (p.His407Tyr) c.961C>T (p.His321Tyr) c.87C>T c.1116C>T (p.Pro372=) c.1333C>T (p.His445Tyr) | |
| 22 | g.50625456G>C | CA412169532 | ARSA | c.1219C>G (p.His407Asp) c.961C>G (p.His321Asp) c.87C>G c.1116C>G (p.Pro372=) c.1333C>G (p.His445Asp) | |
| 22 | g.50625456G>T | CA412169533 | ARSA | c.1219C>A (p.His407Asn) c.961C>A (p.His321Asn) c.87C>A c.1116C>A (p.Pro372=) c.1333C>A (p.His445Asn) | |
| 22 | g.50625457G>A | CA515391364 | ARSA | c.1218C>T (p.Ala406=) c.960C>T (p.Ala320=) c.86C>T c.1115C>T (p.Pro372Leu) c.1332C>T (p.Ala444=) | COSMIC |
| 22 | g.50625457G>C | CA515391367 | ARSA | c.1218C>G (p.Ala406=) c.960C>G (p.Ala320=) c.86C>G c.1115C>G (p.Pro372Arg) c.1332C>G (p.Ala444=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625457G= | CA2410958491 | ARSA | c.1218C= (p.Ala406=) c.960C= (p.Ala320=) c.86C= c.1115C= (p.Pro372=) c.1332C= (p.Ala444=) | |
| 22 | g.50625457G>T | CA515391369 | ARSA | c.1218C>A (p.Ala406=) c.960C>A (p.Ala320=) c.86C>A c.1115C>A (p.Pro372His) c.1332C>A (p.Ala444=) | |
| 22 | g.50625458G>A | CA412169536 | ARSA | c.1217C>T (p.Ala406Val) c.959C>T (p.Ala320Val) c.85C>T c.1114C>T (p.Pro372Ser) c.1331C>T (p.Ala444Val) | |
| 22 | g.50625458G>C | CA412169538 | ARSA | c.1217C>G (p.Ala406Gly) c.959C>G (p.Ala320Gly) c.85C>G c.1114C>G (p.Pro372Ala) c.1331C>G (p.Ala444Gly) | |
| 22 | g.50625458G>T | CA412169542 | ARSA | c.1217C>A (p.Ala406Asp) c.959C>A (p.Ala320Asp) c.85C>A c.1114C>A (p.Pro372Thr) c.1331C>A (p.Ala444Asp) | |
| 22 | g.50625459C>A | CA10324763 | ARSA | c.1216G>T (p.Ala406Ser) c.958G>T (p.Ala320Ser) c.84G>T c.1113G>T (p.Leu371=) c.1330G>T (p.Ala444Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625459C= | CA2410958492 | ARSA | c.1216G= (p.Ala406=) c.958G= (p.Ala320=) c.84G= c.1113G= (p.Leu371=) c.1330G= (p.Ala444=) | |
| 22 | g.50625459C>G | CA412169550 | ARSA | c.1216G>C (p.Ala406Pro) c.958G>C (p.Ala320Pro) c.84G>C c.1113G>C (p.Leu371=) c.1330G>C (p.Ala444Pro) | |
| 22 | g.50625459C>T | CA412169551 | ARSA | c.1216G>A (p.Ala406Thr) c.958G>A (p.Ala320Thr) c.84G>A c.1113G>A (p.Leu371=) c.1330G>A (p.Ala444Thr) | gnomAD v4 |
| 22 | g.50625460A>C | CA515391383 | ARSA | c.1215T>G (p.Ser405=) c.957T>G (p.Ser319=) c.83T>G c.1112T>G (p.Leu371Arg) c.1329T>G (p.Ser443=) | |
| 22 | g.50625460A>G | CA515391384 | ARSA | c.1215T>C (p.Ser405=) c.957T>C (p.Ser319=) c.83T>C c.1112T>C (p.Leu371Pro) c.1329T>C (p.Ser443=) | |
| 22 | g.50625460A>T | CA515391381 | ARSA | c.1215T>A (p.Ser405=) c.957T>A (p.Ser319=) c.83T>A c.1112T>A (p.Leu371Gln) c.1329T>A (p.Ser443=) | |
| 22 | g.50625461G>A | CA10324764 | ARSA | c.1214C>T (p.Ser405Phe) c.956C>T (p.Ser319Phe) c.82C>T c.1111C>T (p.Leu371=) c.1328C>T (p.Ser443Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625461G>C | CA412169554 | ARSA | c.1214C>G (p.Ser405Cys) c.956C>G (p.Ser319Cys) c.82C>G c.1111C>G (p.Leu371Val) c.1328C>G (p.Ser443Cys) | |
| 22 | g.50625461G= | CA2410958493 | ARSA | c.1214C= (p.Ser405=) c.956C= (p.Ser319=) c.82C= c.1111C= (p.Leu371=) c.1328C= (p.Ser443=) | |
| 22 | g.50625461G>T | CA412169556 | ARSA | c.1214C>A (p.Ser405Tyr) c.956C>A (p.Ser319Tyr) c.82C>A c.1111C>A (p.Leu371Met) c.1328C>A (p.Ser443Tyr) | |
| 22 | g.50625462A= | CA2410958494 | ARSA | c.1213T= (p.Ser405=) c.955T= (p.Ser319=) c.81T= c.1110T= (p.Ala370=) c.1327T= (p.Ser443=) | |
| 22 | g.50625462A>C | CA412169566 | ARSA | c.1213T>G (p.Ser405Ala) c.955T>G (p.Ser319Ala) c.81T>G c.1110T>G (p.Ala370=) c.1327T>G (p.Ser443Ala) | |
| 22 | g.50625462A>G | CA10324765 | ARSA | c.1213T>C (p.Ser405Pro) c.955T>C (p.Ser319Pro) c.81T>C c.1110T>C (p.Ala370=) c.1327T>C (p.Ser443Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625462A>T | CA412169562 | ARSA | c.1213T>A (p.Ser405Thr) c.955T>A (p.Ser319Thr) c.81T>A c.1110T>A (p.Ala370=) c.1327T>A (p.Ser443Thr) | |
| 22 | g.50625463G>A | CA515391400 | ARSA | c.1212C>T (p.Gly404=) c.954C>T (p.Gly318=) c.80C>T c.1109C>T (p.Ala370Val) c.1326C>T (p.Gly442=) | |
| 22 | g.50625463G>C | CA515391399 | ARSA | c.1212C>G (p.Gly404=) c.954C>G (p.Gly318=) c.80C>G c.1109C>G (p.Ala370Gly) c.1326C>G (p.Gly442=) | gnomAD v4 |
| 22 | g.50625463G>T | CA515391396 | ARSA | c.1212C>A (p.Gly404=) c.954C>A (p.Gly318=) c.80C>A c.1109C>A (p.Ala370Asp) c.1326C>A (p.Gly442=) | gnomAD v4 |
| 22 | g.50625464C>A | CA412169572 | ARSA | c.1211G>T (p.Gly404Val) c.953G>T (p.Gly318Val) c.79G>T c.1108G>T (p.Ala370Ser) c.1325G>T (p.Gly442Val) | |
| 22 | g.50625464C>G | CA412169575 | ARSA | c.1211G>C (p.Gly404Ala) c.953G>C (p.Gly318Ala) c.79G>C c.1108G>C (p.Ala370Pro) c.1325G>C (p.Gly442Ala) |