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.50625169G>A | CA515390793 | ARSA | c.1506C>T (p.Cys502=) c.1248C>T (p.Cys416=) c.180+194C>T c.*239C>T (n.*239C>T) c.1620C>T (p.Cys540=) | gnomAD v4 COSMIC |
| 22 | g.50625169G>C | CA412166730 | ARSA | c.1506C>G (p.Cys502Trp) c.1248C>G (p.Cys416Trp) c.180+194C>G c.*239C>G (n.*239C>G) c.1620C>G (p.Cys540Trp) | gnomAD v4 |
| 22 | g.50625169G>T | CA412166732 | ARSA | c.1506C>A (p.Cys502Ter) c.1248C>A (p.Cys416Ter) c.180+194C>A c.*239C>A (n.*239C>A) c.1620C>A (p.Cys540Ter) | gnomAD v4 |
| 22 | g.50625170C>A | CA412166735 | ARSA | c.1505G>T (p.Cys502Phe) c.1247G>T (p.Cys416Phe) c.180+193G>T c.*238G>T (n.*238G>T) c.1619G>T (p.Cys540Phe) | gnomAD v4 COSMIC |
| 22 | g.50625170C>G | CA412166744 | ARSA | c.1505G>C (p.Cys502Ser) c.1247G>C (p.Cys416Ser) c.180+193G>C c.*238G>C (n.*238G>C) c.1619G>C (p.Cys540Ser) | |
| 22 | g.50625170C>T | CA412166749 | ARSA | c.1505G>A (p.Cys502Tyr) c.1247G>A (p.Cys416Tyr) c.180+193G>A c.*238G>A (n.*238G>A) c.1619G>A (p.Cys540Tyr) | gnomAD v4 |
| 22 | g.50625171A>C | CA412166753 | ARSA | c.1504T>G (p.Cys502Gly) c.1246T>G (p.Cys416Gly) c.180+192T>G c.*237T>G (n.*237T>G) c.1618T>G (p.Cys540Gly) | |
| 22 | g.50625171A>G | CA412166754 | ARSA | c.1504T>C (p.Cys502Arg) c.1246T>C (p.Cys416Arg) c.180+192T>C c.*237T>C (n.*237T>C) c.1618T>C (p.Cys540Arg) | |
| 22 | g.50625171A>T | CA412166755 | ARSA | c.1504T>A (p.Cys502Ser) c.1246T>A (p.Cys416Ser) c.180+192T>A c.*237T>A (n.*237T>A) c.1618T>A (p.Cys540Ser) | gnomAD v4 |
| 22 | g.50625172G>A | CA515390803 | ARSA | c.1503C>T (p.Cys501=) c.1245C>T (p.Cys415=) c.180+191C>T c.*236C>T (n.*236C>T) c.1617C>T (p.Cys539=) | gnomAD v4 |
| 22 | g.50625172G>C | CA412166757 | ARSA | c.1503C>G (p.Cys501Trp) c.1245C>G (p.Cys415Trp) c.180+191C>G c.*236C>G (n.*236C>G) c.1617C>G (p.Cys539Trp) | |
| 22 | g.50625172G>T | CA412166762 | ARSA | c.1503C>A (p.Cys501Ter) c.1245C>A (p.Cys415Ter) c.180+191C>A c.*236C>A (n.*236C>A) c.1617C>A (p.Cys539Ter) | gnomAD v4 |
| 22 | g.50625173C>A | CA412166770 | ARSA | c.1502G>T (p.Cys501Phe) c.1244G>T (p.Cys415Phe) c.180+190G>T c.*235G>T (n.*235G>T) c.1616G>T (p.Cys539Phe) | gnomAD v4 |
| 22 | g.50625173C>G | CA412166774 | ARSA | c.1502G>C (p.Cys501Ser) c.1244G>C (p.Cys415Ser) c.180+190G>C c.*235G>C (n.*235G>C) c.1616G>C (p.Cys539Ser) | |
| 22 | g.50625173C>T | CA412166766 | ARSA | c.1502G>A (p.Cys501Tyr) c.1244G>A (p.Cys415Tyr) c.180+190G>A c.*235G>A (n.*235G>A) c.1616G>A (p.Cys539Tyr) | gnomAD v4 |
| 22 | g.50625174A>C | CA412166778 | ARSA | c.1501T>G (p.Cys501Gly) c.1243T>G (p.Cys415Gly) c.180+189T>G c.*234T>G (n.*234T>G) c.1615T>G (p.Cys539Gly) | |
| 22 | g.50625174A>G | CA412166782 | ARSA | c.1501T>C (p.Cys501Arg) c.1243T>C (p.Cys415Arg) c.180+189T>C c.*234T>C (n.*234T>C) c.1615T>C (p.Cys539Arg) | |
| 22 | g.50625174A>T | CA412166797 | ARSA | c.1501T>A (p.Cys501Ser) c.1243T>A (p.Cys415Ser) c.180+189T>A c.*234T>A (n.*234T>A) c.1615T>A (p.Cys539Ser) | |
| 22 | g.50625175A= | CA2410958345 | ARSA | c.1500T= (p.Ala500=) c.1242T= (p.Ala414=) c.180+188T= c.*233T= (n.*233T=) c.1614T= (p.Ala538=) | |
| 22 | g.50625175A>C | CA515390818 | ARSA | c.1500T>G (p.Ala500=) c.1242T>G (p.Ala414=) c.180+188T>G c.*233T>G (n.*233T>G) c.1614T>G (p.Ala538=) | |
| 22 | g.50625175A>G | CA10324717 | ARSA | c.1500T>C (p.Ala500=) c.1242T>C (p.Ala414=) c.180+188T>C c.*233T>C (n.*233T>C) c.1614T>C (p.Ala538=) | ClinVar dbSNP ExAC gnomAD v4 |
| 22 | g.50625175A>T | CA515390819 | ARSA | c.1500T>A (p.Ala500=) c.1242T>A (p.Ala414=) c.180+188T>A c.*233T>A (n.*233T>A) c.1614T>A (p.Ala538=) | |
| 22 | g.50625176G>A | CA412166812 | ARSA | c.1499C>T (p.Ala500Val) c.1241C>T (p.Ala414Val) c.180+187C>T c.*232C>T (n.*232C>T) c.1613C>T (p.Ala538Val) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625176G>C | CA412166822 | ARSA | c.1499C>G (p.Ala500Gly) c.1241C>G (p.Ala414Gly) c.180+187C>G c.*232C>G (n.*232C>G) c.1613C>G (p.Ala538Gly) | |
| 22 | g.50625176G= | CA2410958346 | ARSA | c.1499C= (p.Ala500=) c.1241C= (p.Ala414=) c.180+187C= c.*232C= (n.*232C=) c.1613C= (p.Ala538=) | |
| 22 | g.50625176G>T | CA412166826 | ARSA | c.1499C>A (p.Ala500Asp) c.1241C>A (p.Ala414Asp) c.180+187C>A c.*232C>A (n.*232C>A) c.1613C>A (p.Ala538Asp) | gnomAD v4 |
| 22 | g.50625177C>A | CA412166831 | ARSA | c.1498G>T (p.Ala500Ser) c.1240G>T (p.Ala414Ser) c.180+186G>T c.*231G>T (n.*231G>T) c.1612G>T (p.Ala538Ser) | gnomAD v4 |
| 22 | g.50625177C>G | CA412166835 | ARSA | c.1498G>C (p.Ala500Pro) c.1240G>C (p.Ala414Pro) c.180+186G>C c.*231G>C (n.*231G>C) c.1612G>C (p.Ala538Pro) | |
| 22 | g.50625177C>T | CA412166839 | ARSA | c.1498G>A (p.Ala500Thr) c.1240G>A (p.Ala414Thr) c.180+186G>A c.*231G>A (n.*231G>A) c.1612G>A (p.Ala538Thr) | gnomAD v4 |
| 22 | g.50625178T>A | CA515390825 | ARSA | c.1497A>T (p.Pro499=) c.1239A>T (p.Pro413=) c.180+185A>T c.*230A>T (n.*230A>T) c.1611A>T (p.Pro537=) | |
| 22 | g.50625178T>C | CA515390826 | ARSA | c.1497A>G (p.Pro499=) c.1239A>G (p.Pro413=) c.180+185A>G c.*230A>G (n.*230A>G) c.1611A>G (p.Pro537=) | |
| 22 | g.50625178T>G | CA515390827 | ARSA | c.1497A>C (p.Pro499=) c.1239A>C (p.Pro413=) c.180+185A>C c.*230A>C (n.*230A>C) c.1611A>C (p.Pro537=) | |
| 22 | g.50625179G>A | CA412166843 | ARSA | c.1496C>T (p.Pro499Leu) c.1238C>T (p.Pro413Leu) c.180+184C>T c.*229C>T (n.*229C>T) c.1610C>T (p.Pro537Leu) | |
| 22 | g.50625179G>C | CA412166844 | ARSA | c.1496C>G (p.Pro499Arg) c.1238C>G (p.Pro413Arg) c.180+184C>G c.*229C>G (n.*229C>G) c.1610C>G (p.Pro537Arg) | |
| 22 | g.50625179G>T | CA412166845 | ARSA | c.1496C>A (p.Pro499Gln) c.1238C>A (p.Pro413Gln) c.180+184C>A c.*229C>A (n.*229C>A) c.1610C>A (p.Pro537Gln) | |
| 22 | g.50625182_50625185del | CA913088699 | ARSA | c.1493_1496del (p.Arg498GlnfsTer21) c.1235_1238del (p.Arg412GlnfsTer21) c.180+181_180+184del c.*226_*229del (n.*226_*229del) c.1607_1610del (p.Arg536GlnfsTer21) | |
| 22 | g.50625180G>A | CA412166849 | ARSA | c.1495C>T (p.Pro499Ser) c.1237C>T (p.Pro413Ser) c.180+183C>T c.*228C>T (n.*228C>T) c.1609C>T (p.Pro537Ser) | dbSNP gnomAD v4 |
| 22 | g.50625180G>C | CA412166855 | ARSA | c.1495C>G (p.Pro499Ala) c.1237C>G (p.Pro413Ala) c.180+183C>G c.*228C>G (n.*228C>G) c.1609C>G (p.Pro537Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625180G= | CA2410958347 | ARSA | c.1495C= (p.Pro499=) c.1237C= (p.Pro413=) c.180+183C= c.*228C= (n.*228C=) c.1609C= (p.Pro537=) | |
| 22 | g.50625180G>T | CA412166854 | ARSA | c.1495C>A (p.Pro499Thr) c.1237C>A (p.Pro413Thr) c.180+183C>A c.*228C>A (n.*228C>A) c.1609C>A (p.Pro537Thr) | gnomAD v4 |
| 22 | g.50625181G>A | CA515390832 | ARSA | c.1494C>T (p.Arg498=) c.1236C>T (p.Arg412=) c.180+182C>T c.*227C>T (n.*227C>T) c.1608C>T (p.Arg536=) | gnomAD v4 |
| 22 | g.50625181G>C | CA515390833 | ARSA | c.1494C>G (p.Arg498=) c.1236C>G (p.Arg412=) c.180+182C>G c.*227C>G (n.*227C>G) c.1608C>G (p.Arg536=) | |
| 22 | g.50625181G>T | CA515390835 | ARSA | c.1494C>A (p.Arg498=) c.1236C>A (p.Arg412=) c.180+182C>A c.*227C>A (n.*227C>A) c.1608C>A (p.Arg536=) | gnomAD v4 |
| 22 | g.50625182del | CA2657590636 | ARSA | c.1493del (p.Arg498ProfsTer22) c.1235del (p.Arg412ProfsTer22) c.180+181del c.*226del (n.*226del) c.1607del (p.Arg536ProfsTer22) | gnomAD v4 |
| 22 | g.50625182C>A | CA10324719 | ARSA | c.1493G>T (p.Arg498Leu) c.1235G>T (p.Arg412Leu) c.180+181G>T c.*226G>T (n.*226G>T) c.1607G>T (p.Arg536Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625182C= | CA2410958348 | ARSA | c.1493G= (p.Arg498=) c.1235G= (p.Arg412=) c.180+181G= c.*226G= (n.*226G=) c.1607G= (p.Arg536=) | |
| 22 | g.50625182C>G | CA412166858 | ARSA | c.1493G>C (p.Arg498Pro) c.1235G>C (p.Arg412Pro) c.180+181G>C c.*226G>C (n.*226G>C) c.1607G>C (p.Arg536Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625182C>T | CA146671 | ARSA | c.1493G>A (p.Arg498His) c.1235G>A (p.Arg412His) c.180+181G>A c.*226G>A (n.*226G>A) c.1607G>A (p.Arg536His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625182_50625185delinsCGGG | CA2410958349 | ARSA | c.1490_1493delinsCCCG (p.Pro497=) c.1232_1235delinsCCCG (p.Pro411=) c.180+178_180+181delinsCCCG c.*223_*226delinsCCCG (n.*223_*226delinsCCCG) c.1604_1607delinsCCCG (p.Pro535=) | |
| 22 | g.50625183G>A | CA325531157 | ARSA | c.1492C>T (p.Arg498Cys) c.1234C>T (p.Arg412Cys) c.180+180C>T c.*225C>T (n.*225C>T) c.1606C>T (p.Arg536Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |