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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511537A>C;81511547G>C;81511570C>A;81511581G>T;81511594C>G] , CM000679.2:g.[81511537A>C;81511547G>C;81511570C>A;81511581G>T;81511594C>G] | GRCh38 |
| NC_000017.10:g.[79478563A>C;79478573G>C;79478596C>A;79478607G>T;79478620C>G] , CM000679.1:g.[79478563A>C;79478573G>C;79478596C>A;79478607G>T;79478620C>G] | GRCh37 |
| NC_000017.9:g.[77093158A>C;77093168G>C;77093191C>A;77093202G>T;77093215C>G] | NCBI36 |
| NG_011433.1:g.[6208G>C;6221C>A;6232G>T;6255C>G;6265T>G] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[396G>C;409C>A;420G>T;443C>G;453T>G] | ENSP00000466346.2:p.[Met132Ile;Gln137Lys;Leu140=;Thr148Ser;Il... | |
| ENST00000571691.6:c.[340-16G>C;340-3C>A;348G>T;371C>G;381T>G] | ENSP00000461407.2:p.[Leu116=;Thr124Ser;Ile127Met] | |
| ENST00000571721.6:c.[396G>C;409C>A;420G>T;443C>G;453T>G] | ENSP00000460660.2:p.[Met132Ile;Gln137Lys;Leu140=;Thr148Ser;Il... | |
| ENST00000572105.7:c.[437G>C;450C>A;461G>T;484C>G;494T>G] | ENSP00000462823.1:p.[Cys146Ser;Ser150=;Cys154Phe;Pro162Ala;Le... | |
| ENST00000573283.7:c.[396G>C;409C>A;420G>T;443C>G;453T>G] MANE Select | ENSP00000458435.1:p.[Met132Ile;Gln137Lys;Leu140=;Thr148Ser;Il... | |
| ENST00000574671.6:n.[796G>C;809C>A;820G>T;843C>G;853T>G] | ||
| ENST00000575659.6:c.[396G>C;409C>A;420G>T;443C>G;453T>G] | ENSP00000459119.2:p.[Met132Ile;Gln137Lys;Leu140=;Thr148Ser;Il... | |
| ENST00000575994.6:c.[396G>C;409C>A;420G>T;443C>G;453T>G] | ENSP00000460464.2:p.[Met132Ile;Gln137Lys;Leu140=;Thr148Ser;Il... | |
| ENST00000576214.3:n.[697G>C;710C>A;721G>T;744C>G;754T>G] | ||
| ENST00000576544.6:c.[396G>C;409C>A;420G>T;443C>G;453T>G] | ENSP00000461672.1:p.[Met132Ile;Gln137Lys;Leu140=;Thr148Ser;Il... | |
| ENST00000615544.5:c.[396G>C;409C>A;420G>T;443C>G;453T>G] | ENSP00000477968.1:p.[Met132Ile;Gln137Lys;Leu140=;Thr148Ser;Il... | |
| ENST00000644774.2:c.[369G>C;382C>A;393G>T;416C>G;426T>G] | ENSP00000493648.2:p.[Met123Ile;Gln128Lys;Leu131=;Thr139Ser;Il... | |
| ENST00000679410.1:n.[520G>C;533C>A;544G>T;567C>G;577T>G] | ||
| ENST00000679480.1:c.[396G>C;409C>A;420G>T;443C>G;453T>G] | ENSP00000506201.1:p.[Met132Ile;Gln137Lys;Leu140=;Thr148Ser;Il... | |
| ENST00000679535.1:n.[697G>C;710C>A;721G>T;744C>G;754T>G] | ||
| ENST00000679778.1:c.[396G>C;409C>A;420G>T;443C>G;453T>G] | ENSP00000505235.1:p.[Met132Ile;Gln137Lys;Leu140=;Thr148Ser;Il... | |
| ENST00000680227.1:c.[396G>C;409C>A;420G>T;443C>G;453T>G] | ENSP00000506253.1:p.[Met132Ile;Gln137Lys;Leu140=;Thr148Ser;Il... | |
| ENST00000680727.1:c.[396G>C;409C>A;420G>T;443C>G;453T>G] | ENSP00000505193.1:p.[Met132Ile;Gln137Lys;Leu140=;Thr148Ser;Il... | |
| ENST00000681052.1:c.[396G>C;409C>A;420G>T;443C>G;453T>G] | ENSP00000505060.1:p.[Met132Ile;Gln137Lys;Leu140=;Thr148Ser;Il... | |
| ENST00000681092.1:c.[*200G>C;*213C>A;*224G>T;*247C>G;*257T>G] | ENSP00000506720.1:n.[*200G>C;*213C>A;*224G>T;*247C>G;*257T>G]... | |
| ENST00000681842.1:c.[396G>C;409C>A;420G>T;443C>G;453T>G] | ENSP00000506126.1:p.[Met132Ile;Gln137Lys;Leu140=;Thr148Ser;Il... | |
| ENST00000331925.6:c.[396G>C;409C>A;420G>T;443C>G;453T>G] | ENSP00000331514.2:p.[Met132Ile;Gln137Lys;Leu140=;Thr148Ser;Il... | |
| ENST00000570382.1:c.[340-16G>C;340-3C>A;348G>T;371C>G;381T>G] | ENSP00000466346.1:p.[Leu116=;Thr124Ser;Ile127Met] | |
| ENST00000571691.5:c.[369G>C;382C>A;393G>T;416C>G;426T>G] | ENSP00000461407.1:p.[Met123Ile;Gln128Lys;Leu131=;Thr139Ser;Il... | |
| ENST00000571721.5:c.[396G>C;409C>A;420G>T;443C>G;453T>G] | ENSP00000460660.1:p.[Met132Ile;Gln137Lys;Leu140=;Thr148Ser;Il... | |
| ENST00000572105.6:c.[437G>C;450C>A;461G>T;484C>G;494T>G] | ENSP00000462823.1:p.[Cys146Ser;Ser150=;Cys154Phe;Pro162Ala;Le... | |
| ENST00000573283.5:c.[396G>C;409C>A;420G>T;443C>G;453T>G] | ENSP00000458435.1:p.[Met132Ile;Gln137Lys;Leu140=;Thr148Ser;Il... | |
| ENST00000574671.5:n.[255G>C;268C>A;279G>T;302C>G;312T>G] | ||
| ENST00000575087.5:c.[396G>C;409C>A;420G>T;443C>G;453T>G] | ENSP00000459124.1:p.[Met132Ile;Gln137Lys;Leu140=;Thr148Ser;Il... | |
| ENST00000575659.5:c.[396G>C;409C>A;420G>T;443C>G;453T>G] | ENSP00000459119.1:p.[Met132Ile;Gln137Lys;Leu140=;Thr148Ser;Il... | |
| ENST00000575842.5:c.[396G>C;409C>A;420G>T;443C>G;453T>G] | ENSP00000458162.1:p.[Met132Ile;Gln137Lys;Leu140=;Thr148Ser;Il... | |
| ENST00000575994.5:c.[396G>C;409C>A;420G>T;443C>G;453T>G] | ENSP00000460464.1:p.[Met132Ile;Gln137Lys;Leu140=;Thr148Ser;Il... | |
| ENST00000576209.5:n.[281G>C;294C>A;305G>T;328C>G;338T>G] | ||
| ENST00000576214.2:n.[594G>C;607C>A;618G>T;641C>G;651T>G] | ||
| ENST00000576544.5:c.[396G>C;409C>A;420G>T;443C>G;453T>G] | ENSP00000461672.1:p.[Met132Ile;Gln137Lys;Leu140=;Thr148Ser;Il... | |
| ENST00000576917.5:n.[449G>C;462C>A;473G>T;496C>G;506T>G] | ||
| ENST00000615544.4:c.[396G>C;409C>A;420G>T;443C>G;453T>G] | ENSP00000477968.1:p.[Met132Ile;Gln137Lys;Leu140=;Thr148Ser;Il... | |
| NM_001199954.1:c.[396G>C;409C>A;420G>T;443C>G;453T>G] | NP_001186883.1:p.[Met132Ile;Gln137Lys;Leu140=;Thr148Ser;Ile15... | |
| NM_001614.3:c.[396G>C;409C>A;420G>T;443C>G;453T>G] | NP_001605.1:p.[Met132Ile;Gln137Lys;Leu140=;Thr148Ser;Ile151Me... | |
| NR_037688.1:n.[535G>C;548C>A;559G>T;582C>G;592T>G] | ||
| NM_001199954.2:c.[396G>C;409C>A;420G>T;443C>G;453T>G] | NP_001186883.1:p.[Met132Ile;Gln137Lys;Leu140=;Thr148Ser;Ile15... | |
| NM_001614.4:c.[396G>C;409C>A;420G>T;443C>G;453T>G] | NP_001605.1:p.[Met132Ile;Gln137Lys;Leu140=;Thr148Ser;Ile151Me... | |
| NR_037688.2:n.[468G>C;481C>A;492G>T;515C>G;525T>G] | ||
| NM_001614.5:c.[396G>C;409C>A;420G>T;443C>G;453T>G] MANE Select | NP_001605.1:p.[Met132Ile;Gln137Lys;Leu140=;Thr148Ser;Ile151Me... | |
| NR_037688.3:n.[468G>C;481C>A;492G>T;515C>G;525T>G] | ||
| NM_001199954.3:c.[396G>C;409C>A;420G>T;443C>G;453T>G] | NP_001186883.1:p.[Met132Ile;Gln137Lys;Leu140=;Thr148Ser;Ile15... |