This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
Get Identifier
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511501C>G;81511511G>C;81511516C>T;81511527A>T;81511536C>A] , CM000679.2:g.[81511501C>G;81511511G>C;81511516C>T;81511527A>T;81511536C>A] | GRCh38 |
| NC_000017.10:g.[79478527C>G;79478537G>C;79478542C>T;79478553A>T;79478562C>A] , CM000679.1:g.[79478527C>G;79478537G>C;79478542C>T;79478553A>T;79478562C>A] | GRCh37 |
| NC_000017.9:g.[77093122C>G;77093132G>C;77093137C>T;77093148A>T;77093157C>A] | NCBI36 |
| NG_011433.1:g.[6266G>T;6275T>A;6286G>A;6291C>G;6301G>C] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[454G>T;463T>A;474G>A;479C>G;489G>C] | ENSP00000466346.2:p.[Val152Phe;Ser155Thr;Gly158=;Thr160Ser;Va... | |
| ENST00000571691.6:c.[382G>T;391T>A;402G>A;407C>G;417G>C] | ENSP00000461407.2:p.[Val128Phe;Ser131Thr;Gly134=;Thr136Ser;Va... | |
| ENST00000571721.6:c.[454G>T;463T>A;474G>A;479C>G;489G>C] | ENSP00000460660.2:p.[Val152Phe;Ser155Thr;Gly158=;Thr160Ser;Va... | |
| ENST00000572105.7:c.[495G>T;504T>A;515G>A;520C>G;530G>C] | ENSP00000462823.1:p.[Leu165Phe;Thr168=;Gly172Glu;Pro174Ala;Cy... | |
| ENST00000573283.7:c.[454G>T;463T>A;474G>A;479C>G;489G>C] MANE Select | ENSP00000458435.1:p.[Val152Phe;Ser155Thr;Gly158=;Thr160Ser;Va... | |
| ENST00000574671.6:n.[854G>T;863T>A;874G>A;879C>G;889G>C] | ||
| ENST00000575659.6:c.[454G>T;463T>A;474G>A;479C>G;489G>C] | ENSP00000459119.2:p.[Val152Phe;Ser155Thr;Gly158=;Thr160Ser;Va... | |
| ENST00000575994.6:c.[454G>T;463T>A;474G>A;479C>G;489G>C] | ENSP00000460464.2:p.[Val152Phe;Ser155Thr;Gly158=;Thr160Ser;Va... | |
| ENST00000576214.3:n.[755G>T;764T>A;775G>A;780C>G;790G>C] | ||
| ENST00000576544.6:c.[454G>T;463T>A;474G>A;479C>G;489G>C] | ENSP00000461672.1:p.[Val152Phe;Ser155Thr;Gly158=;Thr160Ser;Va... | |
| ENST00000615544.5:c.[454G>T;463T>A;474G>A;479C>G;489G>C] | ENSP00000477968.1:p.[Val152Phe;Ser155Thr;Gly158=;Thr160Ser;Va... | |
| ENST00000644774.2:c.[427G>T;436T>A;447G>A;452C>G;462G>C] | ENSP00000493648.2:p.[Val143Phe;Ser146Thr;Gly149=;Thr151Ser;Va... | |
| ENST00000679410.1:n.[578G>T;587T>A;598G>A;603C>G;613G>C] | ||
| ENST00000679480.1:c.[454G>T;463T>A;474G>A;479C>G;489G>C] | ENSP00000506201.1:p.[Val152Phe;Ser155Thr;Gly158=;Thr160Ser;Va... | |
| ENST00000679535.1:n.[755G>T;764T>A;775G>A;780C>G;790G>C] | ||
| ENST00000679778.1:c.[454G>T;463T>A;474G>A;479C>G;489G>C] | ENSP00000505235.1:p.[Val152Phe;Ser155Thr;Gly158=;Thr160Ser;Va... | |
| ENST00000680227.1:c.[454G>T;463T>A;474G>A;479C>G;489G>C] | ENSP00000506253.1:p.[Val152Phe;Ser155Thr;Gly158=;Thr160Ser;Va... | |
| ENST00000680727.1:c.[454G>T;463T>A;474G>A;479C>G;489G>C] | ENSP00000505193.1:p.[Val152Phe;Ser155Thr;Gly158=;Thr160Ser;Va... | |
| ENST00000681052.1:c.[454G>T;463T>A;474G>A;479C>G;489G>C] | ENSP00000505060.1:p.[Val152Phe;Ser155Thr;Gly158=;Thr160Ser;Va... | |
| ENST00000681092.1:c.[*258G>T;*267T>A;*278G>A;*283C>G;*293G>C] | ENSP00000506720.1:n.[*258G>T;*267T>A;*278G>A;*283C>G;*293G>C]... | |
| ENST00000681842.1:c.[454G>T;463T>A;474G>A;479C>G;489G>C] | ENSP00000506126.1:p.[Val152Phe;Ser155Thr;Gly158=;Thr160Ser;Va... | |
| ENST00000331925.6:c.[454G>T;463T>A;474G>A;479C>G;489G>C] | ENSP00000331514.2:p.[Val152Phe;Ser155Thr;Gly158=;Thr160Ser;Va... | |
| ENST00000571691.5:c.[427G>T;436T>A;447G>A;452C>G;462G>C] | ENSP00000461407.1:p.[Val143Phe;Ser146Thr;Gly149=;Thr151Ser;Va... | |
| ENST00000571721.5:c.[454G>T;463T>A;474G>A;479C>G;489G>C] | ENSP00000460660.1:p.[Val152Phe;Ser155Thr;Gly158=;Thr160Ser;Va... | |
| ENST00000572105.6:c.[495G>T;504T>A;515G>A;520C>G;530G>C] | ENSP00000462823.1:p.[Leu165Phe;Thr168=;Gly172Glu;Pro174Ala;Cy... | |
| ENST00000573283.5:c.[454G>T;463T>A;474G>A;479C>G;489G>C] | ENSP00000458435.1:p.[Val152Phe;Ser155Thr;Gly158=;Thr160Ser;Va... | |
| ENST00000574671.5:n.[313G>T;322T>A;333G>A;338C>G;348G>C] | ||
| ENST00000575087.5:c.[454G>T;463T>A;474G>A;479C>G;489G>C] | ENSP00000459124.1:p.[Val152Phe;Ser155Thr;Gly158=;Thr160Ser;Va... | |
| ENST00000575659.5:c.[454G>T;463T>A;474G>A;479C>G;489G>C] | ENSP00000459119.1:p.[Val152Phe;Ser155Thr;Gly158=;Thr160Ser;Va... | |
| ENST00000575842.5:c.[454G>T;463T>A;474G>A;479C>G;489G>C] | ENSP00000458162.1:p.[Val152Phe;Ser155Thr;Gly158=;Thr160Ser;Va... | |
| ENST00000575994.5:c.[454G>T;463T>A;474G>A;479C>G;489G>C] | ENSP00000460464.1:p.[Val152Phe;Ser155Thr;Gly158=;Thr160Ser;Va... | |
| ENST00000576209.5:n.[339G>T;348T>A;359G>A;364C>G;374G>C] | ||
| ENST00000576214.2:n.[652G>T;661T>A;672G>A;677C>G;687G>C] | ||
| ENST00000576544.5:c.[454G>T;463T>A;474G>A;479C>G;489G>C] | ENSP00000461672.1:p.[Val152Phe;Ser155Thr;Gly158=;Thr160Ser;Va... | |
| ENST00000576917.5:n.[507G>T;516T>A;527G>A;532C>G;542G>C] | ||
| ENST00000615544.4:c.[454G>T;463T>A;474G>A;479C>G;489G>C] | ENSP00000477968.1:p.[Val152Phe;Ser155Thr;Gly158=;Thr160Ser;Va... | |
| NM_001199954.1:c.[454G>T;463T>A;474G>A;479C>G;489G>C] | NP_001186883.1:p.[Val152Phe;Ser155Thr;Gly158=;Thr160Ser;Val16... | |
| NM_001614.3:c.[454G>T;463T>A;474G>A;479C>G;489G>C] | NP_001605.1:p.[Val152Phe;Ser155Thr;Gly158=;Thr160Ser;Val163=]... | |
| NR_037688.1:n.[593G>T;602T>A;613G>A;618C>G;628G>C] | ||
| NM_001199954.2:c.[454G>T;463T>A;474G>A;479C>G;489G>C] | NP_001186883.1:p.[Val152Phe;Ser155Thr;Gly158=;Thr160Ser;Val16... | |
| NM_001614.4:c.[454G>T;463T>A;474G>A;479C>G;489G>C] | NP_001605.1:p.[Val152Phe;Ser155Thr;Gly158=;Thr160Ser;Val163=]... | |
| NR_037688.2:n.[526G>T;535T>A;546G>A;551C>G;561G>C] | ||
| NM_001614.5:c.[454G>T;463T>A;474G>A;479C>G;489G>C] MANE Select | NP_001605.1:p.[Val152Phe;Ser155Thr;Gly158=;Thr160Ser;Val163=]... | |
| NR_037688.3:n.[526G>T;535T>A;546G>A;551C>G;561G>C] | ||
| NM_001199954.3:c.[454G>T;463T>A;474G>A;479C>G;489G>C] | NP_001186883.1:p.[Val152Phe;Ser155Thr;Gly158=;Thr160Ser;Val16... |