This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511552C>G;81511566G>T;81511586G>T] , CM000679.2:g.[81511552C>G;81511566G>T;81511586G>T] | GRCh38 |
| NC_000017.10:g.[79478578C>G;79478592G>T;79478612G>T] , CM000679.1:g.[79478578C>G;79478592G>T;79478612G>T] | GRCh37 |
| NC_000017.9:g.[77093173C>G;77093187G>T;77093207G>T] | NCBI36 |
| NG_011433.1:g.[6216C>A;6236C>A;6250G>C] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[404C>A;424C>A;438G>C] | ENSP00000466346.2:p.[Ala135Asp;Leu142Ile;Gly146=] | |
| ENST00000571691.6:c.[340-8C>A;352C>A;366G>C] | ENSP00000461407.2:p.[Leu118Ile;Gly122=] | |
| ENST00000571721.6:c.[404C>A;424C>A;438G>C] | ENSP00000460660.2:p.[Ala135Asp;Leu142Ile;Gly146=] | |
| ENST00000572105.7:c.[445C>A;465C>A;479G>C] | ENSP00000462823.1:p.[Pro149Thr;Pro155=;Gly160Ala] | |
| ENST00000573283.7:c.[404C>A;424C>A;438G>C] MANE Select | ENSP00000458435.1:p.[Ala135Asp;Leu142Ile;Gly146=] | |
| ENST00000574671.6:n.[804C>A;824C>A;838G>C] | ||
| ENST00000575659.6:c.[404C>A;424C>A;438G>C] | ENSP00000459119.2:p.[Ala135Asp;Leu142Ile;Gly146=] | |
| ENST00000575994.6:c.[404C>A;424C>A;438G>C] | ENSP00000460464.2:p.[Ala135Asp;Leu142Ile;Gly146=] | |
| ENST00000576214.3:n.[705C>A;725C>A;739G>C] | ||
| ENST00000576544.6:c.[404C>A;424C>A;438G>C] | ENSP00000461672.1:p.[Ala135Asp;Leu142Ile;Gly146=] | |
| ENST00000615544.5:c.[404C>A;424C>A;438G>C] | ENSP00000477968.1:p.[Ala135Asp;Leu142Ile;Gly146=] | |
| ENST00000644774.2:c.[377C>A;397C>A;411G>C] | ENSP00000493648.2:p.[Ala126Asp;Leu133Ile;Gly137=] | |
| ENST00000679410.1:n.[528C>A;548C>A;562G>C] | ||
| ENST00000679480.1:c.[404C>A;424C>A;438G>C] | ENSP00000506201.1:p.[Ala135Asp;Leu142Ile;Gly146=] | |
| ENST00000679535.1:n.[705C>A;725C>A;739G>C] | ||
| ENST00000679778.1:c.[404C>A;424C>A;438G>C] | ENSP00000505235.1:p.[Ala135Asp;Leu142Ile;Gly146=] | |
| ENST00000680227.1:c.[404C>A;424C>A;438G>C] | ENSP00000506253.1:p.[Ala135Asp;Leu142Ile;Gly146=] | |
| ENST00000680727.1:c.[404C>A;424C>A;438G>C] | ENSP00000505193.1:p.[Ala135Asp;Leu142Ile;Gly146=] | |
| ENST00000681052.1:c.[404C>A;424C>A;438G>C] | ENSP00000505060.1:p.[Ala135Asp;Leu142Ile;Gly146=] | |
| ENST00000681092.1:c.[*208C>A;*228C>A;*242G>C] | ENSP00000506720.1:n.[*208C>A;*228C>A;*242G>C] | |
| ENST00000681842.1:c.[404C>A;424C>A;438G>C] | ENSP00000506126.1:p.[Ala135Asp;Leu142Ile;Gly146=] | |
| ENST00000331925.6:c.[404C>A;424C>A;438G>C] | ENSP00000331514.2:p.[Ala135Asp;Leu142Ile;Gly146=] | |
| ENST00000570382.1:c.[340-8C>A;352C>A;366G>C] | ENSP00000466346.1:p.[Leu118Ile;Gly122=] | |
| ENST00000571691.5:c.[377C>A;397C>A;411G>C] | ENSP00000461407.1:p.[Ala126Asp;Leu133Ile;Gly137=] | |
| ENST00000571721.5:c.[404C>A;424C>A;438G>C] | ENSP00000460660.1:p.[Ala135Asp;Leu142Ile;Gly146=] | |
| ENST00000572105.6:c.[445C>A;465C>A;479G>C] | ENSP00000462823.1:p.[Pro149Thr;Pro155=;Gly160Ala] | |
| ENST00000573283.5:c.[404C>A;424C>A;438G>C] | ENSP00000458435.1:p.[Ala135Asp;Leu142Ile;Gly146=] | |
| ENST00000574671.5:n.[263C>A;283C>A;297G>C] | ||
| ENST00000575087.5:c.[404C>A;424C>A;438G>C] | ENSP00000459124.1:p.[Ala135Asp;Leu142Ile;Gly146=] | |
| ENST00000575659.5:c.[404C>A;424C>A;438G>C] | ENSP00000459119.1:p.[Ala135Asp;Leu142Ile;Gly146=] | |
| ENST00000575842.5:c.[404C>A;424C>A;438G>C] | ENSP00000458162.1:p.[Ala135Asp;Leu142Ile;Gly146=] | |
| ENST00000575994.5:c.[404C>A;424C>A;438G>C] | ENSP00000460464.1:p.[Ala135Asp;Leu142Ile;Gly146=] | |
| ENST00000576209.5:n.[289C>A;309C>A;323G>C] | ||
| ENST00000576214.2:n.[602C>A;622C>A;636G>C] | ||
| ENST00000576544.5:c.[404C>A;424C>A;438G>C] | ENSP00000461672.1:p.[Ala135Asp;Leu142Ile;Gly146=] | |
| ENST00000576917.5:n.[457C>A;477C>A;491G>C] | ||
| ENST00000615544.4:c.[404C>A;424C>A;438G>C] | ENSP00000477968.1:p.[Ala135Asp;Leu142Ile;Gly146=] | |
| NM_001199954.1:c.[404C>A;424C>A;438G>C] | NP_001186883.1:p.[Ala135Asp;Leu142Ile;Gly146=] | |
| NM_001614.3:c.[404C>A;424C>A;438G>C] | NP_001605.1:p.[Ala135Asp;Leu142Ile;Gly146=] | |
| NR_037688.1:n.[543C>A;563C>A;577G>C] | ||
| NM_001199954.2:c.[404C>A;424C>A;438G>C] | NP_001186883.1:p.[Ala135Asp;Leu142Ile;Gly146=] | |
| NM_001614.4:c.[404C>A;424C>A;438G>C] | NP_001605.1:p.[Ala135Asp;Leu142Ile;Gly146=] | |
| NR_037688.2:n.[476C>A;496C>A;510G>C] | ||
| NM_001614.5:c.[404C>A;424C>A;438G>C] MANE Select | NP_001605.1:p.[Ala135Asp;Leu142Ile;Gly146=] | |
| NR_037688.3:n.[476C>A;496C>A;510G>C] | ||
| NM_001199954.3:c.[404C>A;424C>A;438G>C] | NP_001186883.1:p.[Ala135Asp;Leu142Ile;Gly146=] |