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.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.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) | |
| 22 | g.50625464C>T | CA412169579 | ARSA | c.1211G>A (p.Gly404Asp) c.953G>A (p.Gly318Asp) c.79G>A c.1108G>A (p.Ala370Thr) c.1325G>A (p.Gly442Asp) | |
| 22 | g.50625465C>A | CA412169581 | ARSA | c.1211-1G>T (n.1211-1G>T) c.953-1G>T (n.953-1G>T) c.79-1G>T c.1108-1G>T (n.1108-1G>T) c.1324G>T (p.Gly442Cys) | gnomAD v4 |
| 22 | g.50625465C>G | CA412169582 | ARSA | c.1211-1G>C (n.1211-1G>C) c.953-1G>C (n.953-1G>C) c.79-1G>C c.1108-1G>C (n.1108-1G>C) c.1324G>C (p.Gly442Arg) | |
| 22 | g.50625465C>T | CA412169587 | ARSA | c.1211-1G>A (n.1211-1G>A) c.953-1G>A (n.953-1G>A) c.79-1G>A c.1108-1G>A (n.1108-1G>A) c.1324G>A (p.Gly442Ser) | |
| 22 | g.50625466T>A | CA412169591 | ARSA | c.1211-2A>T (n.1211-2A>T) c.953-2A>T (n.953-2A>T) c.79-2A>T c.1108-2A>T (n.1108-2A>T) c.1323A>T (p.Pro441=) | |
| 22 | g.50625466T>C | CA325531231 | ARSA | c.1211-2A>G (n.1211-2A>G) c.953-2A>G (n.953-2A>G) c.79-2A>G c.1108-2A>G (n.1108-2A>G) c.1323A>G (p.Pro441=) | ClinVar dbSNP |
| 22 | g.50625466T>G | CA412169596 | ARSA | c.1211-2A>C (n.1211-2A>C) c.953-2A>C (n.953-2A>C) c.79-2A>C c.1108-2A>C (n.1108-2A>C) c.1323A>C (p.Pro441=) | |
| 22 | g.50625466T= | CA2410958495 | ARSA | c.1211-2A= (n.1211-2A=) c.953-2A= (n.953-2A=) c.79-2A= c.1108-2A= (n.1108-2A=) c.1323A= (p.Pro441=) | |
| 22 | g.50625467G>A | CA10324766 | ARSA | c.1211-3C>T (n.1211-3C>T) c.953-3C>T (n.953-3C>T) c.79-3C>T c.1108-3C>T (n.1108-3C>T) c.1322C>T (p.Pro441Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625467G= | CA2410958496 | ARSA | c.1211-3C= (n.1211-3C=) c.953-3C= (n.953-3C=) c.79-3C= c.1108-3C= (n.1108-3C=) c.1322C= (p.Pro441=) | |
| 22 | g.50625468G>A | CA10324767 | ARSA | c.1211-4C>T (n.1211-4C>T) c.953-4C>T (n.953-4C>T) c.79-4C>T c.1108-4C>T (n.1108-4C>T) c.1321C>T (p.Pro441Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625468G= | CA2410958497 | ARSA | c.1211-4C= (n.1211-4C=) c.953-4C= (n.953-4C=) c.79-4C= c.1108-4C= (n.1108-4C=) c.1321C= (p.Pro441=) | |
| 22 | g.50625469G>A | CA10324768 | ARSA | c.1211-5C>T (n.1211-5C>T) c.953-5C>T (n.953-5C>T) c.79-5C>T c.1108-5C>T (n.1108-5C>T) c.1320C>T (p.Ser440=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625469G>C | CA10324769 | ARSA | c.1211-5C>G (n.1211-5C>G) c.953-5C>G (n.953-5C>G) c.79-5C>G c.1108-5C>G (n.1108-5C>G) c.1320C>G (p.Ser440=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625469G= | CA2410958498 | ARSA | c.1211-5C= (n.1211-5C=) c.953-5C= (n.953-5C=) c.79-5C= c.1108-5C= (n.1108-5C=) c.1320C= (p.Ser440=) | |
| 22 | g.50625471del | CA2573158301 | ARSA | c.1211-7del (n.1211-7del) c.953-7del (n.953-7del) c.79-7del c.1108-7del (n.1108-7del) c.1318del (p.Ser440ProfsTer21) | ClinVar dbSNP |
| 22 | g.50625471A= | CA2410958499 | ARSA | c.1211-7T= (n.1211-7T=) c.953-7T= (n.953-7T=) c.79-7T= c.1108-7T= (n.1108-7T=) c.1318T= (p.Ser440=) | |
| 22 | g.50625471A>T | CA325531232 | ARSA | c.1211-7T>A (n.1211-7T>A) c.953-7T>A (n.953-7T>A) c.79-7T>A c.1108-7T>A (n.1108-7T>A) c.1318T>A (p.Ser440Thr) | dbSNP |
| 22 | g.50625471_50625472delinsAG | CA2410958500 | ARSA | c.1211-8_1211-7delinsCT (n.1211-8_1211-7delinsCT) c.953-8_953-7delinsCT (n.953-8_953-7delinsCT) c.79-8_79-7delinsCT c.1108-8_1108-7delinsCT (n.1108-8_1108-7delinsCT) c.1317_1318delinsCT (p.Pro439=) |