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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511502A>T;81511504C>A;81511518C>G;81511523C>G] , CM000679.2:g.[81511502A>T;81511504C>A;81511518C>G;81511523C>G] | GRCh38 |
| NC_000017.10:g.[79478528A>T;79478530C>A;79478544C>G;79478549C>G] , CM000679.1:g.[79478528A>T;79478530C>A;79478544C>G;79478549C>G] | GRCh37 |
| NC_000017.9:g.[77093123A>T;77093125C>A;77093139C>G;77093144C>G] | NCBI36 |
| NG_011433.1:g.[6279G>C;6284G>C;6298G>T;6300T>A] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[467G>C;472G>C;486G>T;488T>A] | ENSP00000466346.2:p.[Gly156Ala;Gly158Arg;Thr162=;Val163Glu] | |
| ENST00000571691.6:c.[395G>C;400G>C;414G>T;416T>A] | ENSP00000461407.2:p.[Gly132Ala;Gly134Arg;Thr138=;Val139Glu] | |
| ENST00000571721.6:c.[467G>C;472G>C;486G>T;488T>A] | ENSP00000460660.2:p.[Gly156Ala;Gly158Arg;Thr162=;Val163Glu] | |
| ENST00000572105.7:c.[508G>C;513G>C;527G>T;529T>A] | ENSP00000462823.1:p.[Glu170Gln;Thr171=;Arg176Leu;Cys177Ser] | |
| ENST00000573283.7:c.[467G>C;472G>C;486G>T;488T>A] MANE Select | ENSP00000458435.1:p.[Gly156Ala;Gly158Arg;Thr162=;Val163Glu] | |
| ENST00000574671.6:n.[867G>C;872G>C;886G>T;888T>A] | ||
| ENST00000575659.6:c.[467G>C;472G>C;486G>T;488T>A] | ENSP00000459119.2:p.[Gly156Ala;Gly158Arg;Thr162=;Val163Glu] | |
| ENST00000575994.6:c.[467G>C;472G>C;486G>T;488T>A] | ENSP00000460464.2:p.[Gly156Ala;Gly158Arg;Val163Lys] | |
| ENST00000576214.3:n.[768G>C;773G>C;787G>T;789T>A] | ||
| ENST00000576544.6:c.[467G>C;472G>C;486G>T;488T>A] | ENSP00000461672.1:p.[Gly156Ala;Gly158Arg;Thr162=;Val163Glu] | |
| ENST00000615544.5:c.[467G>C;472G>C;486G>T;488T>A] | ENSP00000477968.1:p.[Gly156Ala;Gly158Arg;Val163Gln] | |
| ENST00000644774.2:c.[440G>C;445G>C;459G>T;461T>A] | ENSP00000493648.2:p.[Gly147Ala;Gly149Arg;Thr153=;Val154Glu] | |
| ENST00000679410.1:n.[591G>C;596G>C;610G>T;612T>A] | ||
| ENST00000679480.1:c.[467G>C;472G>C;486G>T;488T>A] | ENSP00000506201.1:p.[Gly156Ala;Gly158Arg;Val163Lys] | |
| ENST00000679535.1:n.[768G>C;773G>C;787G>T;789T>A] | ||
| ENST00000679778.1:c.[467G>C;472G>C;486G>T;488T>A] | ENSP00000505235.1:p.[Gly156Ala;Gly158Arg;Thr162=;Val163Glu] | |
| ENST00000680227.1:c.[467G>C;472G>C;486G>T;488T>A] | ENSP00000506253.1:p.[Gly156Ala;Gly158Arg;Thr162=;Val163Glu] | |
| ENST00000680727.1:c.[467G>C;472G>C;486G>T;488T>A] | ENSP00000505193.1:p.[Gly156Ala;Gly158Arg;Thr162=;Val163Glu] | |
| ENST00000681052.1:c.[467G>C;472G>C;486G>T;488T>A] | ENSP00000505060.1:p.[Gly156Ala;Gly158Arg;Val163Gln] | |
| ENST00000681092.1:c.[*271G>C;*276G>C;*290G>T;*292T>A] | ENSP00000506720.1:n.[*271G>C;*276G>C;*290G>T;*292T>A] | |
| ENST00000681842.1:c.[467G>C;472G>C;486G>T;488T>A] | ENSP00000506126.1:p.[Gly156Ala;Gly158Arg;Thr162=;Val163Glu] | |
| ENST00000331925.6:c.[467G>C;472G>C;486G>T;488T>A] | ENSP00000331514.2:p.[Gly156Ala;Gly158Arg;Thr162=;Val163Glu] | |
| ENST00000571691.5:c.[440G>C;445G>C;459G>T;461T>A] | ENSP00000461407.1:p.[Gly147Ala;Gly149Arg;Thr153=;Val154Glu] | |
| ENST00000571721.5:c.[467G>C;472G>C;486G>T;488T>A] | ENSP00000460660.1:p.[Gly156Ala;Gly158Arg;Thr162=;Val163Glu] | |
| ENST00000572105.6:c.[508G>C;513G>C;527G>T;529T>A] | ENSP00000462823.1:p.[Glu170Gln;Thr171=;Arg176_Cys177delinsLeu... | |
| ENST00000573283.5:c.[467G>C;472G>C;486G>T;488T>A] | ENSP00000458435.1:p.[Gly156Ala;Gly158Arg;Thr162=;Val163Glu] | |
| ENST00000574671.5:n.[326G>C;331G>C;345G>T;347T>A] | ||
| ENST00000575087.5:c.[467G>C;472G>C;486G>T;488T>A] | ENSP00000459124.1:p.[Gly156Ala;Gly158Arg;Val163Gln] | |
| ENST00000575659.5:c.[467G>C;472G>C;486G>T;488T>A] | ENSP00000459119.1:p.[Gly156Ala;Gly158Arg;Thr162=;Val163Glu] | |
| ENST00000575842.5:c.[467G>C;472G>C;486G>T;488T>A] | ENSP00000458162.1:p.[Gly156Ala;Gly158Arg;Thr162=;Val163Glu] | |
| ENST00000575994.5:c.[467G>C;472G>C;486G>T;488T>A] | ENSP00000460464.1:p.[Gly156Ala;Gly158Arg;Val163Lys] | |
| ENST00000576209.5:n.[352G>C;357G>C;371G>T;373T>A] | ||
| ENST00000576214.2:n.[665G>C;670G>C;684G>T;686T>A] | ||
| ENST00000576544.5:c.[467G>C;472G>C;486G>T;488T>A] | ENSP00000461672.1:p.[Gly156Ala;Gly158Arg;Thr162=;Val163Glu] | |
| ENST00000576917.5:n.[520G>C;525G>C;539G>T;541T>A] | ||
| ENST00000615544.4:c.[467G>C;472G>C;486G>T;488T>A] | ENSP00000477968.1:p.[Gly156Ala;Gly158Arg;Thr162=;Val163Glu] | |
| NM_001199954.1:c.[467G>C;472G>C;486G>T;488T>A] | NP_001186883.1:p.[Gly156Ala;Gly158Arg;Thr162=;Val163Glu] | |
| NM_001614.3:c.[467G>C;472G>C;486G>T;488T>A] | NP_001605.1:p.[Gly156Ala;Gly158Arg;Thr162=;Val163Glu] | |
| NR_037688.1:n.[606G>C;611G>C;625G>T;627T>A] | ||
| NM_001199954.2:c.[467G>C;472G>C;486G>T;488T>A] | NP_001186883.1:p.[Gly156Ala;Gly158Arg;Val163Gln] | |
| NM_001614.4:c.[467G>C;472G>C;486G>T;488T>A] | NP_001605.1:p.[Gly156Ala;Gly158Arg;Thr162=;Val163Glu] | |
| NR_037688.2:n.[539G>C;544G>C;558G>T;560T>A] | ||
| NM_001614.5:c.[467G>C;472G>C;486G>T;488T>A] MANE Select | NP_001605.1:p.[Gly156Ala;Gly158Arg;Thr162=;Val163Glu] | |
| NR_037688.3:n.[539G>C;544G>C;558G>T;560T>A] | ||
| NM_001199954.3:c.[467G>C;472G>C;486G>T;488T>A] | NP_001186883.1:p.[Gly156Ala;Gly158Arg;Val163Gln] |