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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511537A>C;81511542C>G;81511572G>A;81511574A>T] , CM000679.2:g.[81511537A>C;81511542C>G;81511572G>A;81511574A>T] | GRCh38 |
| NC_000017.10:g.[79478563A>C;79478568C>G;79478598G>A;79478600A>T] , CM000679.1:g.[79478563A>C;79478568C>G;79478598G>A;79478600A>T] | GRCh37 |
| NC_000017.9:g.[77093158A>C;77093163C>G;77093193G>A;77093195A>T] | NCBI36 |
| NG_011433.1:g.[6228T>A;6230C>T;6260G>C;6265T>G] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[416T>A;418C>T;448G>C;453T>G] | ENSP00000466346.2:p.[Val139Glu;Gly150Arg;Ile151Met] | |
| ENST00000571691.6:c.[344T>A;346C>T;376G>C;381T>G] | ENSP00000461407.2:p.[Val115Asp;Gly126Arg;Ile127Met] | |
| ENST00000571721.6:c.[416T>A;418C>T;448G>C;453T>G] | ENSP00000460660.2:p.[Val139Asp;Gly150Arg;Ile151Met] | |
| ENST00000572105.7:c.[457T>A;459C>T;489G>C;494T>G] | ENSP00000462823.1:p.[Cys153Ser;Leu163=;Leu165Trp] | |
| ENST00000573283.7:c.[416T>A;418C>T;448G>C;453T>G] MANE Select | ENSP00000458435.1:p.[Val139Glu;Gly150Arg;Ile151Met] | |
| ENST00000574671.6:n.[816T>A;818C>T;848G>C;853T>G] | ||
| ENST00000575659.6:c.[416T>A;418C>T;448G>C;453T>G] | ENSP00000459119.2:p.[Val139Glu;Leu140=;Gly150Arg;Ile151Met] | |
| ENST00000575994.6:c.[416T>A;418C>T;448G>C;453T>G] | ENSP00000460464.2:p.[Val139Glu;Leu140=;Gly150Arg;Ile151Met] | |
| ENST00000576214.3:n.[717T>A;719C>T;749G>C;754T>G] | ||
| ENST00000576544.6:c.[416T>A;418C>T;448G>C;453T>G] | ENSP00000461672.1:p.[Val139Glu;Leu140=;Gly150Arg;Ile151Met] | |
| ENST00000615544.5:c.[416T>A;418C>T;448G>C;453T>G] | ENSP00000477968.1:p.[Val139Glu;Leu140=;Gly150Arg;Ile151Met] | |
| ENST00000644774.2:c.[389T>A;391C>T;421G>C;426T>G] | ENSP00000493648.2:p.[Val130Asp;Gly141Arg;Ile142Met] | |
| ENST00000679410.1:n.[540T>A;542C>T;572G>C;577T>G] | ||
| ENST00000679480.1:c.[416T>A;418C>T;448G>C;453T>G] | ENSP00000506201.1:p.[Val139Glu;Leu140=;Gly150Arg;Ile151Met] | |
| ENST00000679535.1:n.[717T>A;719C>T;749G>C;754T>G] | ||
| ENST00000679778.1:c.[416T>A;418C>T;448G>C;453T>G] | ENSP00000505235.1:p.[Val139Glu;Leu140=;Gly150Arg;Ile151Met] | |
| ENST00000680227.1:c.[416T>A;418C>T;448G>C;453T>G] | ENSP00000506253.1:p.[Val139Glu;Gly150Arg;Ile151Met] | |
| ENST00000680727.1:c.[416T>A;418C>T;448G>C;453T>G] | ENSP00000505193.1:p.[Val139Asp;Gly150Arg;Ile151Met] | |
| ENST00000681052.1:c.[416T>A;418C>T;448G>C;453T>G] | ENSP00000505060.1:p.[Val139Glu;Leu140=;Gly150Arg;Ile151Met] | |
| ENST00000681092.1:c.[*220T>A;*222C>T;*252G>C;*257T>G] | ENSP00000506720.1:n.[*220T>A;*222C>T;*252G>C;*257T>G] | |
| ENST00000681842.1:c.[416T>A;418C>T;448G>C;453T>G] | ENSP00000506126.1:p.[Val139Glu;Gly150Arg;Ile151Met] | |
| ENST00000331925.6:c.[416T>A;418C>T;448G>C;453T>G] | ENSP00000331514.2:p.[Val139Glu;Gly150Arg;Ile151Met] | |
| ENST00000570382.1:c.[344T>A;346C>T;376G>C;381T>G] | ENSP00000466346.1:p.[Val115Asp;Gly126Arg;Ile127Met] | |
| ENST00000571691.5:c.[389T>A;391C>T;421G>C;426T>G] | ENSP00000461407.1:p.[Val130Asp;Gly141Arg;Ile142Met] | |
| ENST00000571721.5:c.[416T>A;418C>T;448G>C;453T>G] | ENSP00000460660.1:p.[Val139Asp;Gly150Arg;Ile151Met] | |
| ENST00000572105.6:c.[457T>A;459C>T;489G>C;494T>G] | ENSP00000462823.1:p.[Cys153Ser;Cys153=;Leu163=;Leu165Trp] | |
| ENST00000573283.5:c.[416T>A;418C>T;448G>C;453T>G] | ENSP00000458435.1:p.[Val139Glu;Leu140=;Gly150Arg;Ile151Met] | |
| ENST00000574671.5:n.[275T>A;277C>T;307G>C;312T>G] | ||
| ENST00000575087.5:c.[416T>A;418C>T;448G>C;453T>G] | ENSP00000459124.1:p.[Val139Glu;Leu140=;Gly150Arg;Ile151Met] | |
| ENST00000575659.5:c.[416T>A;418C>T;448G>C;453T>G] | ENSP00000459119.1:p.[Val139Glu;Leu140=;Gly150Arg;Ile151Met] | |
| ENST00000575842.5:c.[416T>A;418C>T;448G>C;453T>G] | ENSP00000458162.1:p.[Val139Glu;Leu140=;Gly150Arg;Ile151Met] | |
| ENST00000575994.5:c.[416T>A;418C>T;448G>C;453T>G] | ENSP00000460464.1:p.[Val139Glu;Leu140=;Gly150Arg;Ile151Met] | |
| ENST00000576209.5:n.[301T>A;303C>T;333G>C;338T>G] | ||
| ENST00000576214.2:n.[614T>A;616C>T;646G>C;651T>G] | ||
| ENST00000576544.5:c.[416T>A;418C>T;448G>C;453T>G] | ENSP00000461672.1:p.[Val139Glu;Leu140=;Gly150Arg;Ile151Met] | |
| ENST00000576917.5:n.[469T>A;471C>T;501G>C;506T>G] | ||
| ENST00000615544.4:c.[416T>A;418C>T;448G>C;453T>G] | ENSP00000477968.1:p.[Val139Glu;Leu140=;Gly150Arg;Ile151Met] | |
| NM_001199954.1:c.[416T>A;418C>T;448G>C;453T>G] | NP_001186883.1:p.[Val139Glu;Gly150Arg;Ile151Met] | |
| NM_001614.3:c.[416T>A;418C>T;448G>C;453T>G] | NP_001605.1:p.[Val139Glu;Leu140=;Gly150Arg;Ile151Met] | |
| NR_037688.1:n.[555T>A;557C>T;587G>C;592T>G] | ||
| NM_001199954.2:c.[416T>A;418C>T;448G>C;453T>G] | NP_001186883.1:p.[Val139Glu;Leu140=;Gly150Arg;Ile151Met] | |
| NM_001614.4:c.[416T>A;418C>T;448G>C;453T>G] | NP_001605.1:p.[Val139Glu;Gly150Arg;Ile151Met] | |
| NR_037688.2:n.[488T>A;490C>T;520G>C;525T>G] | ||
| NM_001614.5:c.[416T>A;418C>T;448G>C;453T>G] MANE Select | NP_001605.1:p.[Val139Glu;Gly150Arg;Ile151Met] | |
| NR_037688.3:n.[488T>A;490C>T;520G>C;525T>G] | ||
| NM_001199954.3:c.[416T>A;418C>T;448G>C;453T>G] | NP_001186883.1:p.[Val139Glu;Leu140=;Gly150Arg;Ile151Met] |