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.50625585_50625588delinsTGAA | CA2410958568 | ARSA | c.1201_1204delinsTTCA (p.Phe401=) c.943_946delinsTTCA (p.Phe315=) c.69_72delinsTTCA c.1108-124_1108-121delinsTTCA (n.1108-124_1108-121delinsTTCA) | |
| 22 | g.50625590_50625592del | CA891844136 | ARSA | c.1201_1203del (p.Phe401del) c.943_945del (p.Phe315del) c.69_71del c.1108-124_1108-122del (n.1108-124_1108-122del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625588A= | CA2410958570 | ARSA | c.1201T= (p.Phe401=) c.943T= (p.Phe315=) c.69T= c.1108-124T= (n.1108-124T=) | |
| 22 | g.50625588A>C | CA412169794 | ARSA | c.1201T>G (p.Phe401Val) c.943T>G (p.Phe315Val) c.69T>G c.1108-124T>G (n.1108-124T>G) | |
| 22 | g.50625588A>G | CA412169791 | ARSA | c.1201T>C (p.Phe401Leu) c.943T>C (p.Phe315Leu) c.69T>C c.1108-124T>C (n.1108-124T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625588A>T | CA412169788 | ARSA | c.1201T>A (p.Phe401Ile) c.943T>A (p.Phe315Ile) c.69T>A c.1108-124T>A (n.1108-124T>A) | |
| 22 | g.50625589G>A | CA515391473 | ARSA | c.1200C>T (p.Phe400=) c.942C>T (p.Phe314=) c.68C>T c.1108-125C>T (n.1108-125C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625589G>C | CA412169797 | ARSA | c.1200C>G (p.Phe400Leu) c.942C>G (p.Phe314Leu) c.68C>G c.1108-125C>G (n.1108-125C>G) | |
| 22 | g.50625589G= | CA2410958571 | ARSA | c.1200C= (p.Phe400=) c.942C= (p.Phe314=) c.68C= c.1108-125C= (n.1108-125C=) | |
| 22 | g.50625589G>T | CA412169800 | ARSA | c.1200C>A (p.Phe400Leu) c.942C>A (p.Phe314Leu) c.68C>A c.1108-125C>A (n.1108-125C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625590A>C | CA412169803 | ARSA | c.1199T>G (p.Phe400Cys) c.941T>G (p.Phe314Cys) c.67T>G c.1108-126T>G (n.1108-126T>G) | |
| 22 | g.50625590A>G | CA412169808 | ARSA | c.1199T>C (p.Phe400Ser) c.941T>C (p.Phe314Ser) c.67T>C c.1108-126T>C (n.1108-126T>C) | ClinVar |
| 22 | g.50625590A>T | CA412169805 | ARSA | c.1199T>A (p.Phe400Tyr) c.941T>A (p.Phe314Tyr) c.67T>A c.1108-126T>A (n.1108-126T>A) | |
| 22 | g.50625591A>C | CA412169812 | ARSA | c.1198T>G (p.Phe400Val) c.940T>G (p.Phe314Val) c.66T>G c.1108-127T>G (n.1108-127T>G) | ClinVar |
| 22 | g.50625591A>G | CA412169815 | ARSA | c.1198T>C (p.Phe400Leu) c.940T>C (p.Phe314Leu) c.66T>C c.1108-127T>C (n.1108-127T>C) | |
| 22 | g.50625591A>T | CA412169818 | ARSA | c.1198T>A (p.Phe400Ile) c.940T>A (p.Phe314Ile) c.66T>A c.1108-127T>A (n.1108-127T>A) | |
| 22 | g.50625592G>A | CA515391481 | ARSA | c.1197C>T (p.His399=) c.939C>T (p.His313=) c.65C>T c.1108-128C>T (n.1108-128C>T) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625592G>C | CA10324799 | ARSA | c.1197C>G (p.His399Gln) c.939C>G (p.His313Gln) c.65C>G c.1108-128C>G (n.1108-128C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625592G= | CA2410958572 | ARSA | c.1197C= (p.His399=) c.939C= (p.His313=) c.65C= c.1108-128C= (n.1108-128C=) | |
| 22 | g.50625592G>T | CA412169822 | ARSA | c.1197C>A (p.His399Gln) c.939C>A (p.His313Gln) c.65C>A c.1108-128C>A (n.1108-128C>A) | |
| 22 | g.50625593T>A | CA412169825 | ARSA | c.1196A>T (p.His399Leu) c.938A>T (p.His313Leu) c.64A>T c.1108-129A>T (n.1108-129A>T) | |
| 22 | g.50625593T>C | CA412169832 | ARSA | c.1196A>G (p.His399Arg) c.938A>G (p.His313Arg) c.64A>G c.1108-129A>G (n.1108-129A>G) | ClinVar dbSNP |
| 22 | g.50625593T>G | CA412169836 | ARSA | c.1196A>C (p.His399Pro) c.938A>C (p.His313Pro) c.64A>C c.1108-129A>C (n.1108-129A>C) | |
| 22 | g.50625593T= | CA2410958573 | ARSA | c.1196A= (p.His399=) c.938A= (p.His313=) c.64A= c.1108-129A= (n.1108-129A=) | |
| 22 | g.50625594G>A | CA218990 | ARSA | c.1195C>T (p.His399Tyr) c.937C>T (p.His313Tyr) c.63C>T c.1108-130C>T (n.1108-130C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625594G>C | CA412169846 | ARSA | c.1195C>G (p.His399Asp) c.937C>G (p.His313Asp) c.63C>G c.1108-130C>G (n.1108-130C>G) | |
| 22 | g.50625594G= | CA2410958574 | ARSA | c.1195C= (p.His399=) c.937C= (p.His313=) c.63C= c.1108-130C= (n.1108-130C=) | |
| 22 | g.50625594G>T | CA412169859 | ARSA | c.1195C>A (p.His399Asn) c.937C>A (p.His313Asn) c.63C>A c.1108-130C>A (n.1108-130C>A) | |
| 22 | g.50625595A>C | CA515248758 | ARSA | c.1194T>G (p.Ala398=) c.936T>G (p.Ala312=) c.62T>G c.1108-131T>G (n.1108-131T>G) | |
| 22 | g.50625595A>G | CA515248759 | ARSA | c.1194T>C (p.Ala398=) c.936T>C (p.Ala312=) c.62T>C c.1108-131T>C (n.1108-131T>C) | gnomAD v4 |
| 22 | g.50625595A>T | CA515248760 | ARSA | c.1194T>A (p.Ala398=) c.936T>A (p.Ala312=) c.62T>A c.1108-131T>A (n.1108-131T>A) | |
| 22 | g.50625596G>A | CA412169886 | ARSA | c.1193C>T (p.Ala398Val) c.935C>T (p.Ala312Val) c.61C>T c.1108-132C>T (n.1108-132C>T) | |
| 22 | g.50625596G>C | CA412169871 | ARSA | c.1193C>G (p.Ala398Gly) c.935C>G (p.Ala312Gly) c.61C>G c.1108-132C>G (n.1108-132C>G) | |
| 22 | g.50625596G>T | CA412169883 | ARSA | c.1193C>A (p.Ala398Asp) c.935C>A (p.Ala312Asp) c.61C>A c.1108-132C>A (n.1108-132C>A) | |
| 22 | g.50625597C>A | CA412169887 | ARSA | c.1192G>T (p.Ala398Ser) c.934G>T (p.Ala312Ser) c.60G>T c.1108-133G>T (n.1108-133G>T) | |
| 22 | g.50625597C>G | CA412169888 | ARSA | c.1192G>C (p.Ala398Pro) c.934G>C (p.Ala312Pro) c.60G>C c.1108-133G>C (n.1108-133G>C) | |
| 22 | g.50625597C>T | CA412169889 | ARSA | c.1192G>A (p.Ala398Thr) c.934G>A (p.Ala312Thr) c.60G>A c.1108-133G>A (n.1108-133G>A) | |
| 22 | g.50625598C>A | CA412169891 | ARSA | c.1191G>T (p.Lys397Asn) c.933G>T (p.Lys311Asn) c.59G>T c.1108-134G>T (n.1108-134G>T) | |
| 22 | g.50625598C>G | CA412169894 | ARSA | c.1191G>C (p.Lys397Asn) c.933G>C (p.Lys311Asn) c.59G>C c.1108-134G>C (n.1108-134G>C) | |
| 22 | g.50625598C>T | CA515248761 | ARSA | c.1191G>A (p.Lys397=) c.933G>A (p.Lys311=) c.59G>A c.1108-134G>A (n.1108-134G>A) | gnomAD v4 |
| 22 | g.50625599T>A | CA412169897 | ARSA | c.1190A>T (p.Lys397Met) c.932A>T (p.Lys311Met) c.58A>T c.1108-135A>T (n.1108-135A>T) | |
| 22 | g.50625599T>C | CA412169899 | ARSA | c.1190A>G (p.Lys397Arg) c.932A>G (p.Lys311Arg) c.58A>G c.1108-135A>G (n.1108-135A>G) | |
| 22 | g.50625599T>G | CA412169902 | ARSA | c.1190A>C (p.Lys397Thr) c.932A>C (p.Lys311Thr) c.58A>C c.1108-135A>C (n.1108-135A>C) | |
| 22 | g.50625600T>A | CA412169906 | ARSA | c.1189A>T (p.Lys397Ter) c.931A>T (p.Lys311Ter) c.57A>T c.1108-136A>T (n.1108-136A>T) | |
| 22 | g.50625600T>C | CA412169909 | ARSA | c.1189A>G (p.Lys397Glu) c.931A>G (p.Lys311Glu) c.57A>G c.1108-136A>G (n.1108-136A>G) | COSMIC |
| 22 | g.50625600T>G | CA412169915 | ARSA | c.1189A>C (p.Lys397Gln) c.931A>C (p.Lys311Gln) c.57A>C c.1108-136A>C (n.1108-136A>C) | |
| 22 | g.50625601G>A | CA515248762 | ARSA | c.1188C>T (p.Tyr396=) c.930C>T (p.Tyr310=) c.56C>T c.1108-137C>T (n.1108-137C>T) | gnomAD v4 COSMIC |
| 22 | g.50625601G>C | CA412169935 | ARSA | c.1188C>G (p.Tyr396Ter) c.930C>G (p.Tyr310Ter) c.56C>G c.1108-137C>G (n.1108-137C>G) | |
| 22 | g.50625601G>T | CA412169922 | ARSA | c.1188C>A (p.Tyr396Ter) c.930C>A (p.Tyr310Ter) c.56C>A c.1108-137C>A (n.1108-137C>A) | |
| 22 | g.50625602T>A | CA412169939 | ARSA | c.1187A>T (p.Tyr396Phe) c.929A>T (p.Tyr310Phe) c.55A>T c.1108-138A>T (n.1108-138A>T) |