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.50625438_50625447del | CA2657590979 | ARSA | c.1231_1240del (p.Thr411LeufsTer9) c.973_982del (p.Thr325LeufsTer9) c.99_108del c.1128_1137del (p.Leu377CysfsTer12) c.1345_1354del (p.Thr449LeufsTer9) | gnomAD v4 |
| 22 | g.50625442A>C | CA515391306 | ARSA | c.1233T>G (p.Thr411=) c.975T>G (p.Thr325=) c.101T>G c.1130T>G (p.Leu377Arg) c.1347T>G (p.Thr449=) | |
| 22 | g.50625442A>G | CA515391307 | ARSA | c.1233T>C (p.Thr411=) c.975T>C (p.Thr325=) c.101T>C c.1130T>C (p.Leu377Pro) c.1347T>C (p.Thr449=) | gnomAD v4 |
| 22 | g.50625442A>T | CA515391309 | ARSA | c.1233T>A (p.Thr411=) c.975T>A (p.Thr325=) c.101T>A c.1130T>A (p.Leu377Gln) c.1347T>A (p.Thr449=) | |
| 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.50625443G>A | CA115999 | ARSA | c.1232C>T (p.Thr411Ile) c.974C>T (p.Thr325Ile) c.100C>T c.1129C>T (p.Leu377=) c.1346C>T (p.Thr449Ile) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625443G>C | CA412169420 | ARSA | c.1232C>G (p.Thr411Ser) c.974C>G (p.Thr325Ser) c.100C>G c.1129C>G (p.Leu377Val) c.1346C>G (p.Thr449Ser) | |
| 22 | g.50625443G= | CA2410958483 | ARSA | c.1232C= (p.Thr411=) c.974C= (p.Thr325=) c.100C= c.1129C= (p.Leu377=) c.1346C= (p.Thr449=) | |
| 22 | g.50625443G>T | CA412169418 | ARSA | c.1232C>A (p.Thr411Asn) c.974C>A (p.Thr325Asn) c.100C>A c.1129C>A (p.Leu377Met) c.1346C>A (p.Thr449Asn) | gnomAD v4 |
| 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.50625444T>A | CA412169424 | ARSA | c.1231A>T (p.Thr411Ser) c.973A>T (p.Thr325Ser) c.99A>T c.1128A>T (p.Pro376=) c.1345A>T (p.Thr449Ser) | |
| 22 | g.50625444T>C | CA412169433 | ARSA | c.1231A>G (p.Thr411Ala) c.973A>G (p.Thr325Ala) c.99A>G c.1128A>G (p.Pro376=) c.1345A>G (p.Thr449Ala) | |
| 22 | g.50625444T>G | CA412169436 | ARSA | c.1231A>C (p.Thr411Pro) c.973A>C (p.Thr325Pro) c.99A>C c.1128A>C (p.Pro376=) c.1345A>C (p.Thr449Pro) | dbSNP |
| 22 | g.50625444T= | CA2410958485 | ARSA | c.1231A= (p.Thr411=) c.973A= (p.Thr325=) c.99A= c.1128A= (p.Pro376=) c.1345A= (p.Thr449=) | |
| 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.50625445G>A | CA515391317 | ARSA | c.1230C>T (p.Thr410=) c.972C>T (p.Thr324=) c.98C>T c.1127C>T (p.Pro376Leu) c.1344C>T (p.Thr448=) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625445G>C | CA515391322 | ARSA | c.1230C>G (p.Thr410=) c.972C>G (p.Thr324=) c.98C>G c.1127C>G (p.Pro376Arg) c.1344C>G (p.Thr448=) | |
| 22 | g.50625445G>T | CA515391323 | ARSA | c.1230C>A (p.Thr410=) c.972C>A (p.Thr324=) c.98C>A c.1127C>A (p.Pro376Gln) c.1344C>A (p.Thr448=) | |
| 22 | g.50625446G>A | CA116009 | ARSA | c.1229C>T (p.Thr410Ile) c.971C>T (p.Thr324Ile) c.97C>T c.1126C>T (p.Pro376Ser) c.1343C>T (p.Thr448Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625446G>C | CA412169442 | ARSA | c.1229C>G (p.Thr410Ser) c.971C>G (p.Thr324Ser) c.97C>G c.1126C>G (p.Pro376Ala) c.1343C>G (p.Thr448Ser) | |
| 22 | g.50625446G= | CA2410958486 | ARSA | c.1229C= (p.Thr410=) c.971C= (p.Thr324=) c.97C= c.1126C= (p.Pro376=) c.1343C= (p.Thr448=) | |
| 22 | g.50625446G>T | CA412169447 | ARSA | c.1229C>A (p.Thr410Asn) c.971C>A (p.Thr324Asn) c.97C>A c.1126C>A (p.Pro376Thr) c.1343C>A (p.Thr448Asn) | gnomAD v4 |
| 22 | g.50625446_50625447del | CA2499226240 | ARSA | c.1228_1229del (p.Thr410HisfsTer16) c.970_971del (p.Thr324HisfsTer16) c.96_97del c.1125_1126del (p.Pro376ThrfsTer?) c.1342_1343del (p.Thr448HisfsTer16) | ClinVar dbSNP |
| 22 | g.50625446_50625448delinsGTA | CA2410958487 | ARSA | c.1227_1229delinsTAC (p.Asp409=) c.969_971delinsTAC (p.Asp323=) c.95_97delinsTAC c.1124_1126delinsTAC (p.Ile375=) c.1341_1343delinsTAC (p.Asp447=) | |
| 22 | g.50625447T>A | CA412169452 | ARSA | c.1228A>T (p.Thr410Ser) c.970A>T (p.Thr324Ser) c.96A>T c.1125A>T (p.Ile375=) c.1342A>T (p.Thr448Ser) | |
| 22 | g.50625447T>C | CA412169457 | ARSA | c.1228A>G (p.Thr410Ala) c.970A>G (p.Thr324Ala) c.96A>G c.1125A>G (p.Ile375Met) c.1342A>G (p.Thr448Ala) | gnomAD v4 |
| 22 | g.50625447T>G | CA412169469 | ARSA | c.1228A>C (p.Thr410Pro) c.970A>C (p.Thr324Pro) c.96A>C c.1125A>C (p.Ile375=) c.1342A>C (p.Thr448Pro) | |
| 22 | g.50625447dup | CA2573158299 | ARSA | c.1228dup (p.Thr410AsnfsTer17) c.970dup (p.Thr324AsnfsTer17) c.96dup c.1125dup (p.Pro376ThrfsTer?) c.1342dup (p.Thr448AsnfsTer17) | ClinVar dbSNP |
| 22 | g.50625448_50625449del | CA1139667192 | ARSA | c.1227_1228del (p.Thr410HisfsTer16) c.969_970del (p.Thr324HisfsTer16) c.95_96del c.1124_1125del (p.Ile375ThrfsTer?) c.1341_1342del (p.Thr448HisfsTer16) | ClinVar dbSNP |
| 22 | g.50625448A>C | CA412169475 | ARSA | c.1227T>G (p.Asp409Glu) c.969T>G (p.Asp323Glu) c.95T>G c.1124T>G (p.Ile375Arg) c.1341T>G (p.Asp447Glu) | |
| 22 | g.50625448A>G | CA515391336 | ARSA | c.1227T>C (p.Asp409=) c.969T>C (p.Asp323=) c.95T>C c.1124T>C (p.Ile375Thr) c.1341T>C (p.Asp447=) | ClinVar gnomAD v4 |
| 22 | g.50625448A>T | CA412169478 | ARSA | c.1227T>A (p.Asp409Glu) c.969T>A (p.Asp323Glu) c.95T>A c.1124T>A (p.Ile375Lys) c.1341T>A (p.Asp447Glu) | |
| 22 | g.50625449T>A | CA412169488 | ARSA | c.1226A>T (p.Asp409Val) c.968A>T (p.Asp323Val) c.94A>T c.1123A>T (p.Ile375Leu) c.1340A>T (p.Asp447Val) | |
| 22 | g.50625449T>C | CA412169486 | ARSA | c.1226A>G (p.Asp409Gly) c.968A>G (p.Asp323Gly) c.94A>G c.1123A>G (p.Ile375Val) c.1340A>G (p.Asp447Gly) | |
| 22 | g.50625449T>G | CA412169485 | ARSA | c.1226A>C (p.Asp409Ala) c.968A>C (p.Asp323Ala) c.94A>C c.1123A>C (p.Ile375Leu) c.1340A>C (p.Asp447Ala) | |
| 22 | g.50625450C>A | CA412169494 | ARSA | c.1225G>T (p.Asp409Tyr) c.967G>T (p.Asp323Tyr) c.93G>T c.1122G>T (p.Val374=) c.1339G>T (p.Asp447Tyr) | |
| 22 | g.50625450C>G | CA412169499 | ARSA | c.1225G>C (p.Asp409His) c.967G>C (p.Asp323His) c.93G>C c.1122G>C (p.Val374=) c.1339G>C (p.Asp447His) | |
| 22 | g.50625450C>T | CA412169500 | ARSA | c.1225G>A (p.Asp409Asn) c.967G>A (p.Asp323Asn) c.93G>A c.1122G>A (p.Val374=) c.1339G>A (p.Asp447Asn) | COSMIC |
| 22 | g.50625451A>C | CA412169503 | ARSA | c.1224T>G (p.Ser408Arg) c.966T>G (p.Ser322Arg) c.92T>G c.1121T>G (p.Val374Gly) c.1338T>G (p.Ser446Arg) | |
| 22 | g.50625451A>G | CA515391350 | ARSA | c.1224T>C (p.Ser408=) c.966T>C (p.Ser322=) c.92T>C c.1121T>C (p.Val374Ala) c.1338T>C (p.Ser446=) | |
| 22 | g.50625451A>T | CA412169505 | ARSA | c.1224T>A (p.Ser408Arg) c.966T>A (p.Ser322Arg) c.92T>A c.1121T>A (p.Val374Glu) c.1338T>A (p.Ser446Arg) | |
| 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) |