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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511537A>C;81511571A>T;81511573C>G;81511575C>A;81511594C>T] , CM000679.2:g.[81511537A>C;81511571A>T;81511573C>G;81511575C>A;81511594C>T] | GRCh38 |
| NC_000017.10:g.[79478563A>C;79478597A>T;79478599C>G;79478601C>A;79478620C>T] , CM000679.1:g.[79478563A>C;79478597A>T;79478599C>G;79478601C>A;79478620C>T] | GRCh37 |
| NC_000017.9:g.[77093158A>C;77093192A>T;77093194C>G;77093196C>A;77093215C>T] | NCBI36 |
| NG_011433.1:g.[6208G>A;6227G>T;6229G>C;6231T>A;6265T>G] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[396G>A;415G>T;417G>C;419T>A;453T>G] | ENSP00000466346.2:p.[Met132Ile;Val139Leu;Val139=;Leu140Gln;Il... | |
| ENST00000571691.6:c.[340-16G>A;343G>T;345G>C;347T>A;381T>G] | ENSP00000461407.2:p.[Val115Leu;Val115=;Leu116Gln;Ile127Met] | |
| ENST00000571721.6:c.[396G>A;415G>T;417G>C;419T>A;453T>G] | ENSP00000460660.2:p.[Met132Ile;Val139Leu;Val139=;Leu140Gln;Il... | |
| ENST00000572105.7:c.[437G>A;456G>T;458G>C;460T>A;494T>G] | ENSP00000462823.1:p.[Cys146Tyr;Pro152=;Cys153Ser;Cys154Ser;Le... | |
| ENST00000573283.7:c.[396G>A;415G>T;417G>C;419T>A;453T>G] MANE Select | ENSP00000458435.1:p.[Met132Ile;Val139Leu;Val139=;Leu140Gln;Il... | |
| ENST00000574671.6:n.[796G>A;815G>T;817G>C;819T>A;853T>G] | ||
| ENST00000575659.6:c.[396G>A;415G>T;417G>C;419T>A;453T>G] | ENSP00000459119.2:p.[Met132Ile;Val139Cys;Leu140Gln;Ile151Met]... | |
| ENST00000575994.6:c.[396G>A;415G>T;417G>C;419T>A;453T>G] | ENSP00000460464.2:p.[Met132Ile;Val139Leu;Leu140Gln;Ile151Met]... | |
| ENST00000576214.3:n.[697G>A;716G>T;718G>C;720T>A;754T>G] | ||
| ENST00000576544.6:c.[396G>A;415G>T;417G>C;419T>A;453T>G] | ENSP00000461672.1:p.[Met132Ile;Val139Cys;Leu140Gln;Ile151Met]... | |
| ENST00000615544.5:c.[396G>A;415G>T;417G>C;419T>A;453T>G] | ENSP00000477968.1:p.[Met132Ile;Val139Leu;Leu140Lys;Ile151Met]... | |
| ENST00000644774.2:c.[369G>A;388G>T;390G>C;392T>A;426T>G] | ENSP00000493648.2:p.[Met123Ile;Val130Leu;Val130=;Leu131Gln;Il... | |
| ENST00000679410.1:n.[520G>A;539G>T;541G>C;543T>A;577T>G] | ||
| ENST00000679480.1:c.[396G>A;415G>T;417G>C;419T>A;453T>G] | ENSP00000506201.1:p.[Met132Ile;Val139Leu;Val140Ter] | |
| ENST00000679535.1:n.[697G>A;716G>T;718G>C;720T>A;754T>G] | ||
| ENST00000679778.1:c.[396G>A;415G>T;417G>C;419T>A;453T>G] | ENSP00000505235.1:p.[Met132Ile;Val139Cys;Leu140Gln;Ile151Met]... | |
| ENST00000680227.1:c.[396G>A;415G>T;417G>C;419T>A;453T>G] | ENSP00000506253.1:p.[Met132Ile;Val139Leu;Val139=;Leu140Gln;Il... | |
| ENST00000680727.1:c.[396G>A;415G>T;417G>C;419T>A;453T>G] | ENSP00000505193.1:p.[Met132Ile;Val139Leu;Val139=;Leu140Gln;Il... | |
| ENST00000681052.1:c.[396G>A;415G>T;417G>C;419T>A;453T>G] | ENSP00000505060.1:p.[Met132Ile;Val139Leu;Leu140Gln;Ile151Met]... | |
| ENST00000681092.1:c.[*200G>A;*219G>T;*221G>C;*223T>A;*257T>G] | ENSP00000506720.1:n.[*200G>A;*219G>T;*221G>C;*223T>A;*257T>G]... | |
| ENST00000681842.1:c.[396G>A;415G>T;417G>C;419T>A;453T>G] | ENSP00000506126.1:p.[Met132Ile;Val139Leu;Val139=;Leu140Gln;Il... | |
| ENST00000331925.6:c.[396G>A;415G>T;417G>C;419T>A;453T>G] | ENSP00000331514.2:p.[Met132Ile;Val139Leu;Val139=;Leu140Gln;Il... | |
| ENST00000570382.1:c.[340-16G>A;343G>T;345G>C;347T>A;381T>G] | ENSP00000466346.1:p.[Val115Leu;Val115=;Leu116Gln;Ile127Met] | |
| ENST00000571691.5:c.[369G>A;388G>T;390G>C;392T>A;426T>G] | ENSP00000461407.1:p.[Met123Ile;Val130Leu;Val130=;Leu131Gln;Il... | |
| ENST00000571721.5:c.[396G>A;415G>T;417G>C;419T>A;453T>G] | ENSP00000460660.1:p.[Met132Ile;Val139Leu;Val139=;Leu140Gln;Il... | |
| ENST00000572105.6:c.[437G>A;456G>T;458G>C;460T>A;494T>G] | ENSP00000462823.1:p.[Cys146Tyr;Pro152=;Cys153_Cys154delinsSer... | |
| ENST00000573283.5:c.[396G>A;415G>T;417G>C;419T>A;453T>G] | ENSP00000458435.1:p.[Met132Ile;Val139Phe;Leu140Gln;Ile151Met]... | |
| ENST00000574671.5:n.[255G>A;274G>T;276G>C;278T>A;312T>G] | ||
| ENST00000575087.5:c.[396G>A;415G>T;417G>C;419T>A;453T>G] | ENSP00000459124.1:p.[Met132Ile;Val139Leu;Val140Ter] | |
| ENST00000575659.5:c.[396G>A;415G>T;417G>C;419T>A;453T>G] | ENSP00000459119.1:p.[Met132Ile;Val139Cys;Leu140Gln;Ile151Met]... | |
| ENST00000575842.5:c.[396G>A;415G>T;417G>C;419T>A;453T>G] | ENSP00000458162.1:p.[Met132Ile;Val139Ser;Leu140Gln;Ile151Met]... | |
| ENST00000575994.5:c.[396G>A;415G>T;417G>C;419T>A;453T>G] | ENSP00000460464.1:p.[Met132Ile;Val139Leu;Leu140Gln;Ile151Met]... | |
| ENST00000576209.5:n.[281G>A;300G>T;302G>C;304T>A;338T>G] | ||
| ENST00000576214.2:n.[594G>A;613G>T;615G>C;617T>A;651T>G] | ||
| ENST00000576544.5:c.[396G>A;415G>T;417G>C;419T>A;453T>G] | ENSP00000461672.1:p.[Met132Ile;Val139Cys;Leu140Gln;Ile151Met]... | |
| ENST00000576917.5:n.[449G>A;468G>T;470G>C;472T>A;506T>G] | ||
| ENST00000615544.4:c.[396G>A;415G>T;417G>C;419T>A;453T>G] | ENSP00000477968.1:p.[Met132Ile;Val139Cys;Leu140Gln;Ile151Met]... | |
| NM_001199954.1:c.[396G>A;415G>T;417G>C;419T>A;453T>G] | NP_001186883.1:p.[Met132Ile;Val139Leu;Val139=;Leu140Gln;Ile15... | |
| NM_001614.3:c.[396G>A;415G>T;417G>C;419T>A;453T>G] | NP_001605.1:p.[Met132Ile;Val139Cys;Leu140Gln;Ile151Met] | |
| NR_037688.1:n.[535G>A;554G>T;556G>C;558T>A;592T>G] | ||
| NM_001199954.2:c.[396G>A;415G>T;417G>C;419T>A;453T>G] | NP_001186883.1:p.[Met132Ile;Val139Leu;Leu140Gln;Ile151Met] | |
| NM_001614.4:c.[396G>A;415G>T;417G>C;419T>A;453T>G] | NP_001605.1:p.[Met132Ile;Val139Leu;Val139=;Leu140Gln;Ile151Me... | |
| NR_037688.2:n.[468G>A;487G>T;489G>C;491T>A;525T>G] | ||
| NM_001614.5:c.[396G>A;415G>T;417G>C;419T>A;453T>G] MANE Select | NP_001605.1:p.[Met132Ile;Val139Leu;Val139=;Leu140Gln;Ile151Me... | |
| NR_037688.3:n.[468G>A;487G>T;489G>C;491T>A;525T>G] | ||
| NM_001199954.3:c.[396G>A;415G>T;417G>C;419T>A;453T>G] | NP_001186883.1:p.[Met132Ile;Val139Leu;Leu140Gln;Ile151Met] |