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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511449C>A;81511451A>T;81511458G>T;81511480G=;81511528G>C] , CM000679.2:g.[81511449C>A;81511451A>T;81511458G>T;81511480G=;81511528G>C] | GRCh38 |
| NC_000017.10:g.[79478475C>A;79478477A>T;79478484G>T;79478506G=;79478554G>C] , CM000679.1:g.[79478475C>A;79478477A>T;79478484G>T;79478506G=;79478554G>C] | GRCh37 |
| NC_000017.9:g.[77093070C>A;77093072A>T;77093079G>T;77093101G=;77093149G>C] | NCBI36 |
| NG_011433.1:g.[6274C>G;6322C=;6344C>A;6351T>A;6353G>T] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[462C>G;510C=;532C>A;539T>A;541G>T] | ENSP00000466346.2:p.[Asp154Glu;Ala170=;Leu178Met;Leu180_Ala18... | |
| ENST00000571691.6:c.[390C>G;438C=;460C>A;467T>A;469G>T] | ENSP00000461407.2:p.[Asp130Glu;Ala146=;Leu154Met;Leu156_Ala15... | |
| ENST00000571721.6:c.[462C>G;510C=;532C>A;539T>A;541G>T] | ENSP00000460660.2:p.[Asp154Glu;Ala170=;Leu178Met;Leu180_Ala18... | |
| ENST00000572105.7:c.[503C>G;551C=;573C>A;580T>A;582G>T] | ENSP00000462823.1:p.[Thr168Ser;Pro184=;Val191=;Trp194Ile] | |
| ENST00000573283.7:c.[462C>G;510C=;532C>A;539T>A;541G>T] MANE Select | ENSP00000458435.1:p.[Asp154Glu;Ala170=;Leu178Met;Leu180_Ala18... | |
| ENST00000574671.6:n.[862C>G;910C=;932C>A;939T>A;941G>T] | ||
| ENST00000575659.6:c.[462C>G;510C=;532C>A;539T>A;541G>T] | ENSP00000459119.2:p.[Asp154Glu;Ala170=;Leu178Met;Leu180Gln;Al... | |
| ENST00000575994.6:c.[462C>G;510C=;532C>A;539T>A;541G>T] | ENSP00000460464.2:p.[Asp154Glu;Ala170=;Leu178Met;Leu180Gln;Al... | |
| ENST00000576214.3:n.[763C>G;811C=;833C>A;840T>A;842G>T] | ||
| ENST00000576544.6:c.[462C>G;510C=;532C>A;539T>A;541G>T] | ENSP00000461672.1:p.[Asp154Glu;Ala170=;Leu178Met;Leu180Gln;Al... | |
| ENST00000615544.5:c.[462C>G;510C=;532C>A;539T>A;541G>T] | ENSP00000477968.1:p.[Asp154Glu;Ala170=;Leu178Met;Leu180Gln;Al... | |
| ENST00000644774.2:c.[435C>G;483C=;505C>A;512T>A;514G>T] | ENSP00000493648.2:p.[Asp145Glu;Ala161=;Leu169Met;Leu171_Ala17... | |
| ENST00000679410.1:n.[586C>G;634C=;656C>A;663T>A;665G>T] | ||
| ENST00000679480.1:c.[462C>G;510C=;532C>A;539T>A;541G>T] | ENSP00000506201.1:p.[Asp154Glu;Ala170=;Leu178Met;Leu180Gln;Al... | |
| ENST00000679535.1:n.[763C>G;811C=;833C>A;840T>A;842G>T] | ||
| ENST00000679778.1:c.[462C>G;510C=;532C>A;539T>A;541G>T] | ENSP00000505235.1:p.[Asp154Glu;Ala170=;Leu178Met;Leu180Gln;Al... | |
| ENST00000680227.1:c.[462C>G;510C=;532C>A;539T>A;541G>T] | ENSP00000506253.1:p.[Asp154Glu;Ala170=;Leu178Met;Leu180_Ala18... | |
| ENST00000680727.1:c.[462C>G;510C=;532C>A;539T>A;541G>T] | ENSP00000505193.1:p.[Asp154Glu;Ala170=;Leu178Met;Leu180_Ala18... | |
| ENST00000681052.1:c.[462C>G;510C=;532C>A;539T>A;541G>T] | ENSP00000505060.1:p.[Asp154Glu;Ala170=;Leu178Met;Leu180Gln;Al... | |
| ENST00000681092.1:c.[*266C>G;*314C=;*336C>A;*343T>A;*345G>T] | ENSP00000506720.1:n.[*266C>G;*314C=;*336C>A;*343T>A;*345G>T] | |
| ENST00000681842.1:c.[462C>G;510C=;532C>A;539T>A;541G>T] | ENSP00000506126.1:p.[Asp154Glu;Ala170=;Leu178Met;Leu180_Ala18... | |
| ENST00000331925.6:c.[462C>G;510C=;532C>A;539T>A;541G>T] | ENSP00000331514.2:p.[Asp154Glu;Ala170=;Leu178Met;Leu180_Ala18... | |
| ENST00000571691.5:c.[435C>G;483C=;505C>A;512T>A;514G>T] | ENSP00000461407.1:p.[Asp145Glu;Ala161=;Leu169Met;Leu171_Ala17... | |
| ENST00000572105.6:c.[503C>G;551C=;573C>A;580T>A;582G>T] | ENSP00000462823.1:p.[Thr168Ser;Pro184=;Val191=;Trp194Arg;Trp1... | |
| ENST00000573283.5:c.[462C>G;510C=;532C>A;539T>A;541G>T] | ENSP00000458435.1:p.[Asp154Glu;Ala170=;Leu178Met;Leu180Gln;Al... | |
| ENST00000574671.5:n.[321C>G;369C=;391C>A;398T>A;400G>T] | ||
| ENST00000575087.5:c.[462C>G;510C=;532C>A;539T>A;541G>T] | ENSP00000459124.1:p.[Asp154Glu;Ala170=;Leu178Met;Leu180Gln;Al... | |
| ENST00000575659.5:c.[462C>G;510C=;532C>A;539T>A;541G>T] | ENSP00000459119.1:p.[Asp154Glu;Ala170=;Leu178Met;Leu180Gln;Al... | |
| ENST00000575842.5:c.[462C>G;510C=;532C>A;539T>A;541G>T] | ENSP00000458162.1:p.[Asp154Glu;Ala170=;Leu178Met;Leu180Gln;Al... | |
| ENST00000575994.5:c.[462C>G;510C=;532C>A;539T>A;541G>T] | ENSP00000460464.1:p.[Asp154Glu;Ala170=;Leu178Met;Leu180Gln;Al... | |
| ENST00000576209.5:n.[347C>G;395C=;417C>A;424T>A;426G>T] | ||
| ENST00000576214.2:n.[660C>G;708C=;730C>A;737T>A;739G>T] | ||
| ENST00000576544.5:c.[462C>G;510C=;532C>A;539T>A;541G>T] | ENSP00000461672.1:p.[Asp154Glu;Ala170=;Leu178Met;Leu180Gln;Al... | |
| ENST00000576917.5:n.[515C>G;563C=;585C>A;592T>A;594G>T] | ||
| ENST00000615544.4:c.[462C>G;510C=;532C>A;539T>A;541G>T] | ENSP00000477968.1:p.[Asp154Glu;Ala170=;Leu178Met;Leu180Gln;Al... | |
| NM_001199954.1:c.[462C>G;510C=;532C>A;539T>A;541G>T] | NP_001186883.1:p.[Asp154Glu;Ala170=;Leu178Met;Leu180_Ala181de... | |
| NM_001614.3:c.[462C>G;510C=;532C>A;539T>A;541G>T] | NP_001605.1:p.[Asp154Glu;Ala170=;Leu178Met;Leu180Gln;Ala181Se... | |
| NR_037688.1:n.[601C>G;649C=;671C>A;678T>A;680G>T] | ||
| NM_001199954.2:c.[462C>G;510C=;532C>A;539T>A;541G>T] | NP_001186883.1:p.[Asp154Glu;Ala170=;Leu178Met;Leu180Gln;Ala18... | |
| NM_001614.4:c.[462C>G;510C=;532C>A;539T>A;541G>T] | NP_001605.1:p.[Asp154Glu;Ala170=;Leu178Met;Leu180_Ala181delin... | |
| NR_037688.2:n.[534C>G;582C=;604C>A;611T>A;613G>T] | ||
| NM_001614.5:c.[462C>G;510C=;532C>A;539T>A;541G>T] MANE Select | NP_001605.1:p.[Asp154Glu;Ala170=;Leu178Met;Leu180_Ala181delin... | |
| NR_037688.3:n.[534C>G;582C=;604C>A;611T>A;613G>T] | ||
| NM_001199954.3:c.[462C>G;510C=;532C>A;539T>A;541G>T] | NP_001186883.1:p.[Asp154Glu;Ala170=;Leu178Met;Leu180Gln;Ala18... |