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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511537A>C;81511544G>C;81511546G>T;81511590C>T;81511598G>C] , CM000679.2:g.[81511537A>C;81511544G>C;81511546G>T;81511590C>T;81511598G>C] | GRCh38 |
| NC_000017.10:g.[79478563A>C;79478570G>C;79478572G>T;79478616C>T;79478624G>C] , CM000679.1:g.[79478563A>C;79478570G>C;79478572G>T;79478616C>T;79478624G>C] | GRCh37 |
| NC_000017.9:g.[77093158A>C;77093165G>C;77093167G>T;77093211C>T;77093219G>C] | NCBI36 |
| NG_011433.1:g.[6204C>G;6212G>A;6256C>A;6258C>G;6265T>G] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[392C>G;400G>A;444C>A;446C>G;453T>G] | ENSP00000466346.2:p.[Ala131Gly;Val134Met;Thr148=;Thr149Ser;Il... | |
| ENST00000571691.6:c.[340-20C>G;340-12G>A;372C>A;374C>G;381T>G] | ENSP00000461407.2:p.[Thr124=;Thr125Ser;Ile127Met] | |
| ENST00000571721.6:c.[392C>G;400G>A;444C>A;446C>G;453T>G] | ENSP00000460660.2:p.[Ala131Gly;Val134Met;Thr148=;Thr149Ser;Il... | |
| ENST00000572105.7:c.[433C>G;441G>A;485C>A;487C>G;494T>G] | ENSP00000462823.1:p.[Pro145Ala;Thr147=;Pro162Gln;Leu163Val;Le... | |
| ENST00000573283.7:c.[392C>G;400G>A;444C>A;446C>G;453T>G] MANE Select | ENSP00000458435.1:p.[Ala131Gly;Val134Met;Thr148=;Thr149Ser;Il... | |
| ENST00000574671.6:n.[792C>G;800G>A;844C>A;846C>G;853T>G] | ||
| ENST00000575659.6:c.[392C>G;400G>A;444C>A;446C>G;453T>G] | ENSP00000459119.2:p.[Ala131Gly;Val134Met;Thr148=;Thr149Ser;Il... | |
| ENST00000575994.6:c.[392C>G;400G>A;444C>A;446C>G;453T>G] | ENSP00000460464.2:p.[Ala131Gly;Val134Met;Thr149Arg;Ile151Met]... | |
| ENST00000576214.3:n.[693C>G;701G>A;745C>A;747C>G;754T>G] | ||
| ENST00000576544.6:c.[392C>G;400G>A;444C>A;446C>G;453T>G] | ENSP00000461672.1:p.[Ala131Gly;Val134Met;Thr148=;Thr149Ser;Il... | |
| ENST00000615544.5:c.[392C>G;400G>A;444C>A;446C>G;453T>G] | ENSP00000477968.1:p.[Ala131Gly;Val134Met;Thr149Gly;Ile151Met]... | |
| ENST00000644774.2:c.[365C>G;373G>A;417C>A;419C>G;426T>G] | ENSP00000493648.2:p.[Ala122Gly;Val125Met;Thr139=;Thr140Ser;Il... | |
| ENST00000679410.1:n.[516C>G;524G>A;568C>A;570C>G;577T>G] | ||
| ENST00000679480.1:c.[392C>G;400G>A;444C>A;446C>G;453T>G] | ENSP00000506201.1:p.[Ala131Gly;Val134Met;Thr149Arg;Ile151Met]... | |
| ENST00000679535.1:n.[693C>G;701G>A;745C>A;747C>G;754T>G] | ||
| ENST00000679778.1:c.[392C>G;400G>A;444C>A;446C>G;453T>G] | ENSP00000505235.1:p.[Ala131Gly;Val134Met;Thr148=;Thr149Ser;Il... | |
| ENST00000680227.1:c.[392C>G;400G>A;444C>A;446C>G;453T>G] | ENSP00000506253.1:p.[Ala131Gly;Val134Met;Thr148=;Thr149Ser;Il... | |
| ENST00000680727.1:c.[392C>G;400G>A;444C>A;446C>G;453T>G] | ENSP00000505193.1:p.[Ala131Gly;Val134Met;Thr148=;Thr149Ser;Il... | |
| ENST00000681052.1:c.[392C>G;400G>A;444C>A;446C>G;453T>G] | ENSP00000505060.1:p.[Ala131Gly;Val134Met;Thr149Gly;Ile151Met]... | |
| ENST00000681092.1:c.[*196C>G;*204G>A;*248C>A;*250C>G;*257T>G] | ENSP00000506720.1:n.[*196C>G;*204G>A;*248C>A;*250C>G;*257T>G]... | |
| ENST00000681842.1:c.[392C>G;400G>A;444C>A;446C>G;453T>G] | ENSP00000506126.1:p.[Ala131Gly;Val134Met;Thr148=;Thr149Ser;Il... | |
| ENST00000331925.6:c.[392C>G;400G>A;444C>A;446C>G;453T>G] | ENSP00000331514.2:p.[Ala131Gly;Val134Met;Thr148=;Thr149Ser;Il... | |
| ENST00000570382.1:c.[340-20C>G;340-12G>A;372C>A;374C>G;381T>G] | ENSP00000466346.1:p.[Thr124=;Thr125Ser;Ile127Met] | |
| ENST00000571691.5:c.[365C>G;373G>A;417C>A;419C>G;426T>G] | ENSP00000461407.1:p.[Ala122Gly;Val125Met;Thr139=;Thr140Ser;Il... | |
| ENST00000571721.5:c.[392C>G;400G>A;444C>A;446C>G;453T>G] | ENSP00000460660.1:p.[Ala131Gly;Val134Met;Thr148=;Thr149Ser;Il... | |
| ENST00000572105.6:c.[433C>G;441G>A;485C>A;487C>G;494T>G] | ENSP00000462823.1:p.[Pro145Ala;Thr147=;Pro162_Leu163delinsHis... | |
| ENST00000573283.5:c.[392C>G;400G>A;444C>A;446C>G;453T>G] | ENSP00000458435.1:p.[Ala131Gly;Val134Met;Thr148=;Thr149Ser;Il... | |
| ENST00000574671.5:n.[251C>G;259G>A;303C>A;305C>G;312T>G] | ||
| ENST00000575087.5:c.[392C>G;400G>A;444C>A;446C>G;453T>G] | ENSP00000459124.1:p.[Ala131Gly;Val134Met;Thr149Cys;Ile151Met]... | |
| ENST00000575659.5:c.[392C>G;400G>A;444C>A;446C>G;453T>G] | ENSP00000459119.1:p.[Ala131Gly;Val134Met;Thr148=;Thr149Ser;Il... | |
| ENST00000575842.5:c.[392C>G;400G>A;444C>A;446C>G;453T>G] | ENSP00000458162.1:p.[Ala131Gly;Val134Met;Thr148=;Thr149Ser;Il... | |
| ENST00000575994.5:c.[392C>G;400G>A;444C>A;446C>G;453T>G] | ENSP00000460464.1:p.[Ala131Gly;Val134Met;Thr149Arg;Ile151Met]... | |
| ENST00000576209.5:n.[277C>G;285G>A;329C>A;331C>G;338T>G] | ||
| ENST00000576214.2:n.[590C>G;598G>A;642C>A;644C>G;651T>G] | ||
| ENST00000576544.5:c.[392C>G;400G>A;444C>A;446C>G;453T>G] | ENSP00000461672.1:p.[Ala131Gly;Val134Met;Thr148=;Thr149Ser;Il... | |
| ENST00000576917.5:n.[445C>G;453G>A;497C>A;499C>G;506T>G] | ||
| ENST00000615544.4:c.[392C>G;400G>A;444C>A;446C>G;453T>G] | ENSP00000477968.1:p.[Ala131Gly;Val134Met;Thr148=;Thr149Ser;Il... | |
| NM_001199954.1:c.[392C>G;400G>A;444C>A;446C>G;453T>G] | NP_001186883.1:p.[Ala131Gly;Val134Met;Thr148=;Thr149Ser;Ile15... | |
| NM_001614.3:c.[392C>G;400G>A;444C>A;446C>G;453T>G] | NP_001605.1:p.[Ala131Gly;Val134Met;Thr148=;Thr149Ser;Ile151Me... | |
| NR_037688.1:n.[531C>G;539G>A;583C>A;585C>G;592T>G] | ||
| NM_001199954.2:c.[392C>G;400G>A;444C>A;446C>G;453T>G] | NP_001186883.1:p.[Ala131Gly;Val134Met;Thr149Gly;Ile151Met] | |
| NM_001614.4:c.[392C>G;400G>A;444C>A;446C>G;453T>G] | NP_001605.1:p.[Ala131Gly;Val134Met;Thr148=;Thr149Ser;Ile151Me... | |
| NR_037688.2:n.[464C>G;472G>A;516C>A;518C>G;525T>G] | ||
| NM_001614.5:c.[392C>G;400G>A;444C>A;446C>G;453T>G] MANE Select | NP_001605.1:p.[Ala131Gly;Val134Met;Thr148=;Thr149Ser;Ile151Me... | |
| NR_037688.3:n.[464C>G;472G>A;516C>A;518C>G;525T>G] | ||
| NM_001199954.3:c.[392C>G;400G>A;444C>A;446C>G;453T>G] | NP_001186883.1:p.[Ala131Gly;Val134Met;Thr149Gly;Ile151Met] |