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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511512T>A;81511540G>C;81511542C>T;81511549G>T;81511551G>T;81511553C>A] , CM000679.2:g.[81511512T>A;81511540G>C;81511542C>T;81511549G>T;81511551G>T;81511553C>A] | GRCh38 |
| NC_000017.10:g.[79478538T>A;79478566G>C;79478568C>T;79478575G>T;79478577G>T;79478579C>A] , CM000679.1:g.[79478538T>A;79478566G>C;79478568C>T;79478575G>T;79478577G>T;79478579C>A] | GRCh37 |
| NC_000017.9:g.[77093133T>A;77093161G>C;77093163C>T;77093170G>T;77093172G>T;77093174C>A] | NCBI36 |
| NG_011433.1:g.[6249G>T;6251C>A;6253C>A;6260G>A;6262C>G;6290A>T] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[437G>T;439C>A;441C>A;448G>A;450C>G;478A>T] | ENSP00000466346.2:p.[Gly146_Arg147delinsValSer;Arg147=;Gly150... | |
| ENST00000571691.6:c.[365G>T;367C>A;369C>A;376G>A;378C>G;406A>T] | ENSP00000461407.2:p.[Gly122_Arg123delinsValSer;Arg123=;Gly126... | |
| ENST00000571721.6:c.[437G>T;439C>A;441C>A;448G>A;450C>G;478A>T] | ENSP00000460660.2:p.[Gly146_Arg147delinsValSer;Arg147=;Gly150... | |
| ENST00000572105.7:c.[478G>T;480C>A;482C>A;489G>A;491C>G;519A>T] | ENSP00000462823.1:p.Gly160Ter | |
| ENST00000573283.7:c.[437G>T;439C>A;441C>A;448G>A;450C>G;478A>T] MANE Select | ENSP00000458435.1:p.[Gly146_Arg147delinsValSer;Arg147=;Gly150... | |
| ENST00000574671.6:n.[837G>T;839C>A;841C>A;848G>A;850C>G;878A>T] | ||
| ENST00000575659.6:c.[437G>T;439C>A;441C>A;448G>A;450C>G;478A>T] | ENSP00000459119.2:p.[Gly146Val;Arg147Thr;Gly150Met;Thr160Ser]... | |
| ENST00000575994.6:c.[437G>T;439C>A;441C>A;448G>A;450C>G;478A>T] | ENSP00000460464.2:p.[Gly146Val;Arg147Ser;Arg147=;Gly150Ser;Gl... | |
| ENST00000576214.3:n.[738G>T;740C>A;742C>A;749G>A;751C>G;779A>T] | ||
| ENST00000576544.6:c.[437G>T;439C>A;441C>A;448G>A;450C>G;478A>T] | ENSP00000461672.1:p.[Gly146Val;Arg147=;Gly150Arg;Thr160Ser] | |
| ENST00000615544.5:c.[437G>T;439C>A;441C>A;448G>A;450C>G;478A>T] | ENSP00000477968.1:p.[Gly146Val;Arg147Ser;Arg147=;Gly150Ser;Gl... | |
| ENST00000644774.2:c.[410G>T;412C>A;414C>A;421G>A;423C>G;451A>T] | ENSP00000493648.2:p.[Gly137_Arg138delinsValSer;Arg138=;Gly141... | |
| ENST00000679410.1:n.[561G>T;563C>A;565C>A;572G>A;574C>G;602A>T] | ||
| ENST00000679480.1:c.[437G>T;439C>A;441C>A;448G>A;450C>G;478A>T] | ENSP00000506201.1:p.[Gly146Val;Arg147Ser;Arg147=;Gly150Ser;Gl... | |
| ENST00000679535.1:n.[738G>T;740C>A;742C>A;749G>A;751C>G;779A>T] | ||
| ENST00000679778.1:c.[437G>T;439C>A;441C>A;448G>A;450C>G;478A>T] | ENSP00000505235.1:p.[Gly146Val;Arg147Thr;Gly150Thr;Thr160Ser]... | |
| ENST00000680227.1:c.[437G>T;439C>A;441C>A;448G>A;450C>G;478A>T] | ENSP00000506253.1:p.[Gly146_Arg147delinsValSer;Arg147=;Gly150... | |
| ENST00000680727.1:c.[437G>T;439C>A;441C>A;448G>A;450C>G;478A>T] | ENSP00000505193.1:p.[Gly146_Arg147delinsValSer;Arg147=;Gly150... | |
| ENST00000681052.1:c.[437G>T;439C>A;441C>A;448G>A;450C>G;478A>T] | ENSP00000505060.1:p.[Gly146Val;Arg147Ser;Arg147=;Gly150Ser;Gl... | |
| ENST00000681092.1:c.[*241G>T;*243C>A;*245C>A;*252G>A;*254C>G;*282A>T] | ENSP00000506720.1:n.[*241G>T;*243C>A;*245C>A;*252G>A;*254C>G;... | |
| ENST00000681842.1:c.[437G>T;439C>A;441C>A;448G>A;450C>G;478A>T] | ENSP00000506126.1:p.[Gly146_Arg147delinsValSer;Arg147=;Gly150... | |
| ENST00000331925.6:c.[437G>T;439C>A;441C>A;448G>A;450C>G;478A>T] | ENSP00000331514.2:p.[Gly146_Arg147delinsValSer;Arg147=;Gly150... | |
| ENST00000571691.5:c.[410G>T;412C>A;414C>A;421G>A;423C>G;451A>T] | ENSP00000461407.1:p.[Gly137_Arg138delinsValSer;Arg138=;Gly141... | |
| ENST00000571721.5:c.[437G>T;439C>A;441C>A;448G>A;450C>G;478A>T] | ENSP00000460660.1:p.[Gly146_Arg147delinsValSer;Arg147=;Gly150... | |
| ENST00000572105.6:c.[478G>T;480C>A;482C>A;489G>A;491C>G;519A>T] | ENSP00000462823.1:p.[Gly160Cys;Gly160=;Ala161Glu;Leu163=;Ala1... | |
| ENST00000573283.5:c.[437G>T;439C>A;441C>A;448G>A;450C>G;478A>T] | ENSP00000458435.1:p.[Gly146Val;Arg147=;Gly150Lys;Thr160Ser] | |
| ENST00000574671.5:n.[296G>T;298C>A;300C>A;307G>A;309C>G;337A>T] | ||
| ENST00000575087.5:c.[437G>T;439C>A;441C>A;448G>A;450C>G;478A>T] | ENSP00000459124.1:p.[Gly146Val;Arg147Ser;Arg147=;Gly150Ser;Gl... | |
| ENST00000575659.5:c.[437G>T;439C>A;441C>A;448G>A;450C>G;478A>T] | ENSP00000459119.1:p.[Gly146Val;Arg147Thr;Gly150Met;Thr160Ser]... | |
| ENST00000575842.5:c.[437G>T;439C>A;441C>A;448G>A;450C>G;478A>T] | ENSP00000458162.1:p.[Gly146Val;Arg147=;Gly150Met;Thr160Ser] | |
| ENST00000575994.5:c.[437G>T;439C>A;441C>A;448G>A;450C>G;478A>T] | ENSP00000460464.1:p.[Gly146Val;Arg147Ser;Arg147=;Gly150Ser;Gl... | |
| ENST00000576209.5:n.[322G>T;324C>A;326C>A;333G>A;335C>G;363A>T] | ||
| ENST00000576214.2:n.[635G>T;637C>A;639C>A;646G>A;648C>G;676A>T] | ||
| ENST00000576544.5:c.[437G>T;439C>A;441C>A;448G>A;450C>G;478A>T] | ENSP00000461672.1:p.[Gly146Val;Arg147=;Gly150Arg;Thr160Ser] | |
| ENST00000576917.5:n.[490G>T;492C>A;494C>A;501G>A;503C>G;531A>T] | ||
| ENST00000615544.4:c.[437G>T;439C>A;441C>A;448G>A;450C>G;478A>T] | ENSP00000477968.1:p.[Gly146Val;Arg147=;Gly150Arg;Thr160Ser] | |
| NM_001199954.1:c.[437G>T;439C>A;441C>A;448G>A;450C>G;478A>T] | NP_001186883.1:p.[Gly146_Arg147delinsValSer;Arg147=;Gly150Ser... | |
| NM_001614.3:c.[437G>T;439C>A;441C>A;448G>A;450C>G;478A>T] | NP_001605.1:p.[Gly146Val;Arg147=;Gly150Arg;Thr160Ser] | |
| NR_037688.1:n.[576G>T;578C>A;580C>A;587G>A;589C>G;617A>T] | ||
| NM_001199954.2:c.[437G>T;439C>A;441C>A;448G>A;450C>G;478A>T] | NP_001186883.1:p.[Gly146Val;Arg147Ser;Arg147=;Gly150Ser;Gly15... | |
| NM_001614.4:c.[437G>T;439C>A;441C>A;448G>A;450C>G;478A>T] | NP_001605.1:p.[Gly146_Arg147delinsValSer;Arg147=;Gly150Ser;Gl... | |
| NR_037688.2:n.[509G>T;511C>A;513C>A;520G>A;522C>G;550A>T] | ||
| NM_001614.5:c.[437G>T;439C>A;441C>A;448G>A;450C>G;478A>T] MANE Select | NP_001605.1:p.[Gly146_Arg147delinsValSer;Arg147=;Gly150Ser;Gl... | |
| NR_037688.3:n.[509G>T;511C>A;513C>A;520G>A;522C>G;550A>T] | ||
| NM_001199954.3:c.[437G>T;439C>A;441C>A;448G>A;450C>G;478A>T] | NP_001186883.1:p.[Gly146Val;Arg147Ser;Arg147=;Gly150Ser;Gly15... |