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 |
|---|---|---|---|---|---|
| 1 | g.99862364_99862498delinsTATTACAT | CA2697552540 | AGL | c.401_460+75delinsTATTACAT n.612_671+75delinsTATTACAT c.353_412+75delinsTATTACAT c.350_409+75delinsTATTACAT | ClinVar |
| 1 | g.99862407G>A | CA419095881 | AGL | c.444G>A (p.Arg148=) n.655G>A c.396G>A (p.Arg132=) c.393G>A (p.Arg131=) | |
| 1 | g.99862407G>C | CA341332767 | AGL | c.444G>C (p.Arg148Ser) n.655G>C c.396G>C (p.Arg132Ser) c.393G>C (p.Arg131Ser) | gnomAD v4 |
| 1 | g.99862407G>T | CA341332768 | AGL | c.444G>T (p.Arg148Ser) n.655G>T c.396G>T (p.Arg132Ser) c.393G>T (p.Arg131Ser) | gnomAD v4 |
| 1 | g.99862408G>A | CA341332780 | AGL | c.445G>A (p.Val149Ile) n.656G>A c.397G>A (p.Val133Ile) c.394G>A (p.Val132Ile) | gnomAD v4 |
| 1 | g.99862408G>C | CA341332786 | AGL | c.445G>C (p.Val149Leu) n.656G>C c.397G>C (p.Val133Leu) c.394G>C (p.Val132Leu) | |
| 1 | g.99862408G>T | CA341332787 | AGL | c.445G>T (p.Val149Phe) n.656G>T c.397G>T (p.Val133Phe) c.394G>T (p.Val132Phe) | |
| 1 | g.99862409T>A | CA341332791 | AGL | c.446T>A (p.Val149Asp) n.657T>A c.398T>A (p.Val133Asp) c.395T>A (p.Val132Asp) | |
| 1 | g.99862409T>C | CA966163 | AGL | c.446T>C (p.Val149Ala) n.657T>C c.398T>C (p.Val133Ala) c.395T>C (p.Val132Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99862409T>G | CA341332808 | AGL | c.446T>G (p.Val149Gly) n.657T>G c.398T>G (p.Val133Gly) c.395T>G (p.Val132Gly) | |
| 1 | g.99862409T= | CA1183924561 | AGL | c.446T= (p.Val149=) n.657T= c.398T= (p.Val133=) c.395T= (p.Val132=) | |
| 1 | g.99862410T>A | CA419095882 | AGL | c.447T>A (p.Val149=) n.658T>A c.399T>A (p.Val133=) c.396T>A (p.Val132=) | |
| 1 | g.99862410T>C | CA419095883 | AGL | c.447T>C (p.Val149=) n.658T>C c.399T>C (p.Val133=) c.396T>C (p.Val132=) | |
| 1 | g.99862410T>G | CA419095884 | AGL | c.447T>G (p.Val149=) n.658T>G c.399T>G (p.Val133=) c.396T>G (p.Val132=) | |
| 1 | g.99862411G>A | CA341332809 | AGL | c.448G>A (p.Ala150Thr) n.659G>A c.400G>A (p.Ala134Thr) c.397G>A (p.Ala133Thr) | |
| 1 | g.99862411G>C | CA341332817 | AGL | c.448G>C (p.Ala150Pro) n.659G>C c.400G>C (p.Ala134Pro) c.397G>C (p.Ala133Pro) | |
| 1 | g.99862411G>T | CA341332826 | AGL | c.448G>T (p.Ala150Ser) n.659G>T c.400G>T (p.Ala134Ser) c.397G>T (p.Ala133Ser) | |
| 1 | g.99862412C>A | CA341332848 | AGL | c.449C>A (p.Ala150Glu) n.660C>A c.401C>A (p.Ala134Glu) c.398C>A (p.Ala133Glu) | |
| 1 | g.99862412C>G | CA341332835 | AGL | c.449C>G (p.Ala150Gly) n.660C>G c.401C>G (p.Ala134Gly) c.398C>G (p.Ala133Gly) | |
| 1 | g.99862412C>T | CA341332844 | AGL | c.449C>T (p.Ala150Val) n.660C>T c.401C>T (p.Ala134Val) c.398C>T (p.Ala133Val) | |
| 1 | g.99862413A= | CA1183924563 | AGL | c.450A= (p.Ala150=) n.661A= c.402A= (p.Ala134=) c.399A= (p.Ala133=) | |
| 1 | g.99862413A>C | CA419095885 | AGL | c.450A>C (p.Ala150=) n.661A>C c.402A>C (p.Ala134=) c.399A>C (p.Ala133=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99862413A>G | CA419095886 | AGL | c.450A>G (p.Ala150=) n.661A>G c.402A>G (p.Ala134=) c.399A>G (p.Ala133=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99862413A>T | CA419095887 | AGL | c.450A>T (p.Ala150=) n.661A>T c.402A>T (p.Ala134=) c.399A>T (p.Ala133=) | |
| 1 | g.99862414A>C | CA341332856 | AGL | c.451A>C (p.Lys151Gln) n.662A>C c.403A>C (p.Lys135Gln) c.400A>C (p.Lys134Gln) | |
| 1 | g.99862414A>G | CA341332866 | AGL | c.451A>G (p.Lys151Glu) n.662A>G c.403A>G (p.Lys135Glu) c.400A>G (p.Lys134Glu) | |
| 1 | g.99862414A>T | CA341332869 | AGL | c.451A>T (p.Lys151Ter) n.662A>T c.403A>T (p.Lys135Ter) c.400A>T (p.Lys134Ter) | |
| 1 | g.99862415A>C | CA341332879 | AGL | c.452A>C (p.Lys151Thr) n.663A>C c.404A>C (p.Lys135Thr) c.401A>C (p.Lys134Thr) | |
| 1 | g.99862415A>G | CA341332885 | AGL | c.452A>G (p.Lys151Arg) n.663A>G c.404A>G (p.Lys135Arg) c.401A>G (p.Lys134Arg) | |
| 1 | g.99862415A>T | CA341332888 | AGL | c.452A>T (p.Lys151Ile) n.663A>T c.404A>T (p.Lys135Ile) c.401A>T (p.Lys134Ile) | |
| 1 | g.99862416A>C | CA341332899 | AGL | c.453A>C (p.Lys151Asn) n.664A>C c.405A>C (p.Lys135Asn) c.402A>C (p.Lys134Asn) | |
| 1 | g.99862416A>G | CA419095888 | AGL | c.453A>G (p.Lys151=) n.664A>G c.405A>G (p.Lys135=) c.402A>G (p.Lys134=) | |
| 1 | g.99862416A>T | CA341332904 | AGL | c.453A>T (p.Lys151Asn) n.664A>T c.405A>T (p.Lys135Asn) c.402A>T (p.Lys134Asn) | |
| 1 | g.99862417G>A | CA341332929 | AGL | c.454G>A (p.Glu152Lys) n.665G>A c.406G>A (p.Glu136Lys) c.403G>A (p.Glu135Lys) | gnomAD v4 |
| 1 | g.99862417G>C | CA341332949 | AGL | c.454G>C (p.Glu152Gln) n.665G>C c.406G>C (p.Glu136Gln) c.403G>C (p.Glu135Gln) | dbSNP COSMIC |
| 1 | g.99862417G= | CA1183924566 | AGL | c.454G= (p.Glu152=) n.665G= c.406G= (p.Glu136=) c.403G= (p.Glu135=) | |
| 1 | g.99862417G>T | CA341332967 | AGL | c.454G>T (p.Glu152Ter) n.665G>T c.406G>T (p.Glu136Ter) c.403G>T (p.Glu135Ter) | ClinVar dbSNP |
| 1 | g.99862418A= | CA1183924576 | AGL | c.455A= (p.Glu152=) n.666A= c.407A= (p.Glu136=) c.404A= (p.Glu135=) | |
| 1 | g.99862418A>C | CA341332975 | AGL | c.455A>C (p.Glu152Ala) n.666A>C c.407A>C (p.Glu136Ala) c.404A>C (p.Glu135Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99862418A>G | CA341332977 | AGL | c.455A>G (p.Glu152Gly) n.666A>G c.407A>G (p.Glu136Gly) c.404A>G (p.Glu135Gly) | gnomAD v4 |
| 1 | g.99862418A>T | CA341332974 | AGL | c.455A>T (p.Glu152Val) n.666A>T c.407A>T (p.Glu136Val) c.404A>T (p.Glu135Val) | |
| 1 | g.99862418_99862419insTT | CA2547901912 | AGL | c.455_456insTT (p.Glu152AspfsTer7) n.666_667insTT c.407_408insTT (p.Glu136AspfsTer7) c.404_405insTT (p.Glu135AspfsTer7) | |
| 1 | g.99862419A>C | CA341332978 | AGL | c.456A>C (p.Glu152Asp) n.667A>C c.408A>C (p.Glu136Asp) c.405A>C (p.Glu135Asp) | |
| 1 | g.99862419A>G | CA419095890 | AGL | c.456A>G (p.Glu152=) n.667A>G c.408A>G (p.Glu136=) c.405A>G (p.Glu135=) | gnomAD v4 |
| 1 | g.99862419A>T | CA341332991 | AGL | c.456A>T (p.Glu152Asp) n.667A>T c.408A>T (p.Glu136Asp) c.405A>T (p.Glu135Asp) | |
| 1 | g.99862420T>A | CA341332993 | AGL | c.457T>A (p.Ser153Thr) n.668T>A c.409T>A (p.Ser137Thr) c.406T>A (p.Ser136Thr) | |
| 1 | g.99862420T>C | CA341332994 | AGL | c.457T>C (p.Ser153Pro) n.668T>C c.409T>C (p.Ser137Pro) c.406T>C (p.Ser136Pro) | |
| 1 | g.99862420T>G | CA341332995 | AGL | c.457T>G (p.Ser153Ala) n.668T>G c.409T>G (p.Ser137Ala) c.406T>G (p.Ser136Ala) | |
| 1 | g.99862421C>A | CA341333011 | AGL | c.458C>A (p.Ser153Ter) n.669C>A c.410C>A (p.Ser137Ter) c.407C>A (p.Ser136Ter) | ClinVar dbSNP |
| 1 | g.99862421C= | CA1183924583 | AGL | c.458C= (p.Ser153=) n.669C= c.410C= (p.Ser137=) c.407C= (p.Ser136=) |