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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511436A>G;81511465G>C;81511476G>A;81511502A>T] , CM000679.2:g.[81511436A>G;81511465G>C;81511476G>A;81511502A>T] | GRCh38 |
| NC_000017.10:g.[79478462A>G;79478491G>C;79478502G>A;79478528A>T] , CM000679.1:g.[79478462A>G;79478491G>C;79478502G>A;79478528A>T] | GRCh37 |
| NC_000017.9:g.[77093057A>G;77093086G>C;77093097G>A;77093123A>T] | NCBI36 |
| NG_011433.1:g.[6300T>A;6326C>T;6337C>G;6366T>C] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[488T>A;514C>T;525C>G;554T>C] | ENSP00000466346.2:p.[Val163Glu;Pro172Ser;Ile175Met;Leu185Pro]... | |
| ENST00000571691.6:c.[416T>A;442C>T;453C>G;482T>C] | ENSP00000461407.2:p.[Val139Glu;Pro148Ser;Ile151Met;Leu161Pro]... | |
| ENST00000571721.6:c.[488T>A;514C>T;525C>G;554T>C] | ENSP00000460660.2:p.[Val163Glu;Pro172Ser;Ile175Met;Leu185Pro]... | |
| ENST00000572105.7:c.[529T>A;555C>T;566C>G;595T>C] | ENSP00000462823.1:p.[Cys177Ser;Ser185=;Ser189Cys;Ter199Arg] | |
| ENST00000573283.7:c.[488T>A;514C>T;525C>G;554T>C] MANE Select | ENSP00000458435.1:p.[Val163Glu;Pro172Ser;Ile175Met;Leu185Pro]... | |
| ENST00000574671.6:n.[888T>A;914C>T;925C>G;954T>C] | ||
| ENST00000575659.6:c.[488T>A;514C>T;525C>G;554T>C] | ENSP00000459119.2:p.[Val163Glu;Pro172Ser;Ile175Met;Leu185Pro]... | |
| ENST00000575994.6:c.[488T>A;514C>T;525C>G;554T>C] | ENSP00000460464.2:p.[Val163Glu;Pro172Ser;Ile175Met;Leu185Pro]... | |
| ENST00000576214.3:n.[789T>A;815C>T;826C>G;855T>C] | ||
| ENST00000576544.6:c.[488T>A;514C>T;525C>G;554T>C] | ENSP00000461672.1:p.[Val163Glu;Pro172Ser;Ile175Met;Leu185Pro]... | |
| ENST00000615544.5:c.[488T>A;514C>T;525C>G;554T>C] | ENSP00000477968.1:p.[Val163Glu;Pro172Ser;Ile175Met;Leu185Pro]... | |
| ENST00000644774.2:c.[461T>A;487C>T;498C>G;527T>C] | ENSP00000493648.2:p.[Val154Glu;Pro163Ser;Ile166Met;Leu176Pro]... | |
| ENST00000679410.1:n.[612T>A;638C>T;649C>G;678T>C] | ||
| ENST00000679480.1:c.[488T>A;514C>T;525C>G;554T>C] | ENSP00000506201.1:p.[Val163Glu;Pro172Ser;Ile175Met;Leu185Pro]... | |
| ENST00000679535.1:n.[789T>A;815C>T;826C>G;855T>C] | ||
| ENST00000679778.1:c.[488T>A;514C>T;525C>G;554T>C] | ENSP00000505235.1:p.[Val163Glu;Pro172Ser;Ile175Met;Leu185Pro]... | |
| ENST00000680227.1:c.[488T>A;514C>T;525C>G;554T>C] | ENSP00000506253.1:p.[Val163Glu;Pro172Ser;Ile175Met;Leu185Pro]... | |
| ENST00000680727.1:c.[488T>A;514C>T;525C>G;554T>C] | ENSP00000505193.1:p.[Val163Glu;Pro172Ser;Ile175Met;Leu185Pro]... | |
| ENST00000681052.1:c.[488T>A;514C>T;525C>G;554T>C] | ENSP00000505060.1:p.[Val163Glu;Pro172Ser;Ile175Met;Leu185Pro]... | |
| ENST00000681092.1:c.[*292T>A;*318C>T;*329C>G;*358T>C] | ENSP00000506720.1:n.[*292T>A;*318C>T;*329C>G;*358T>C] | |
| ENST00000681842.1:c.[488T>A;514C>T;525C>G;554T>C] | ENSP00000506126.1:p.[Val163Glu;Pro172Ser;Ile175Met;Leu185Pro]... | |
| ENST00000331925.6:c.[488T>A;514C>T;525C>G;554T>C] | ENSP00000331514.2:p.[Val163Glu;Pro172Ser;Ile175Met;Leu185Pro]... | |
| ENST00000571691.5:c.[461T>A;487C>T;498C>G;527T>C] | ENSP00000461407.1:p.[Val154Glu;Pro163Ser;Ile166Met;Leu176Pro]... | |
| ENST00000572105.6:c.[529T>A;555C>T;566C>G;595T>C] | ENSP00000462823.1:p.[Cys177Ser;Ser185=;Ser189Cys;Ter199Arg] | |
| ENST00000573283.5:c.[488T>A;514C>T;525C>G;554T>C] | ENSP00000458435.1:p.[Val163Glu;Pro172Ser;Ile175Met;Leu185Pro]... | |
| ENST00000574671.5:n.[347T>A;373C>T;384C>G;413T>C] | ||
| ENST00000575087.5:c.[488T>A;514C>T;525C>G;554T>C] | ENSP00000459124.1:p.[Val163Glu;Pro172Ser;Ile175Met;Leu185Pro]... | |
| ENST00000575659.5:c.[488T>A;514C>T;525C>G;554T>C] | ENSP00000459119.1:p.[Val163Glu;Pro172Ser;Ile175Met;Leu185Pro]... | |
| ENST00000575842.5:c.[488T>A;514C>T;525C>G;554T>C] | ENSP00000458162.1:p.[Val163Glu;Pro172Ser;Ile175Met;Leu185Pro]... | |
| ENST00000575994.5:c.[488T>A;514C>T;525C>G;554T>C] | ENSP00000460464.1:p.[Val163Glu;Pro172Ser;Ile175Met;Leu185Pro]... | |
| ENST00000576209.5:n.[373T>A;399C>T;410C>G;439T>C] | ||
| ENST00000576214.2:n.[686T>A;712C>T;723C>G;752T>C] | ||
| ENST00000576544.5:c.[488T>A;514C>T;525C>G;554T>C] | ENSP00000461672.1:p.[Val163Glu;Pro172Ser;Ile175Met;Leu185Pro]... | |
| ENST00000576917.5:n.[541T>A;567C>T;578C>G;607T>C] | ||
| ENST00000615544.4:c.[488T>A;514C>T;525C>G;554T>C] | ENSP00000477968.1:p.[Val163Glu;Pro172Ser;Ile175Met;Leu185Pro]... | |
| NM_001199954.1:c.[488T>A;514C>T;525C>G;554T>C] | NP_001186883.1:p.[Val163Glu;Pro172Ser;Ile175Met;Leu185Pro] | |
| NM_001614.3:c.[488T>A;514C>T;525C>G;554T>C] | NP_001605.1:p.[Val163Glu;Pro172Ser;Ile175Met;Leu185Pro] | |
| NR_037688.1:n.[627T>A;653C>T;664C>G;693T>C] | ||
| NM_001199954.2:c.[488T>A;514C>T;525C>G;554T>C] | NP_001186883.1:p.[Val163Glu;Pro172Ser;Ile175Met;Leu185Pro] | |
| NM_001614.4:c.[488T>A;514C>T;525C>G;554T>C] | NP_001605.1:p.[Val163Glu;Pro172Ser;Ile175Met;Leu185Pro] | |
| NR_037688.2:n.[560T>A;586C>T;597C>G;626T>C] | ||
| NM_001614.5:c.[488T>A;514C>T;525C>G;554T>C] MANE Select | NP_001605.1:p.[Val163Glu;Pro172Ser;Ile175Met;Leu185Pro] | |
| NR_037688.3:n.[560T>A;586C>T;597C>G;626T>C] | ||
| NM_001199954.3:c.[488T>A;514C>T;525C>G;554T>C] | NP_001186883.1:p.[Val163Glu;Pro172Ser;Ile175Met;Leu185Pro] |