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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511463A>T;81511470C>G;81511477G>T;81511479G>A;81511502A>T] , CM000679.2:g.[81511463A>T;81511470C>G;81511477G>T;81511479G>A;81511502A>T] | GRCh38 |
| NC_000017.10:g.[79478489A>T;79478496C>G;79478503G>T;79478505G>A;79478528A>T] , CM000679.1:g.[79478489A>T;79478496C>G;79478503G>T;79478505G>A;79478528A>T] | GRCh37 |
| NC_000017.9:g.[77093084A>T;77093091C>G;77093098G>T;77093100G>A;77093123A>T] | NCBI36 |
| NG_011433.1:g.[6300T>A;6323C>T;6325C>A;6332G>C;6339T>A] |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001614.5:c.[488T>A;511C>T;513C>A;520G>C;527T>A] MANE Select | NP_001605.1:p.[Val163Glu;Leu171Phe;Leu171=;Ala174Pro;Leu176Gl... |
| ENST00000573283.7:c.[488T>A;511C>T;513C>A;520G>C;527T>A] MANE Select | ENSP00000458435.1:p.[Val163Glu;Leu171Phe;Leu171=;Ala174Pro;Le... |
| NM_001199954.1:c.[488T>A;511C>T;513C>A;520G>C;527T>A] | NP_001186883.1:p.[Val163Glu;Leu171Phe;Leu171=;Ala174Pro;Leu17... |
| NM_001199954.2:c.[488T>A;511C>T;513C>A;520G>C;527T>A] | NP_001186883.1:p.[Val163Glu;Leu171Phe;Leu171=;Ala174Pro;Leu17... |
| NM_001199954.3:c.[488T>A;511C>T;513C>A;520G>C;527T>A] | NP_001186883.1:p.[Val163Glu;Leu171Phe;Leu171=;Ala174Pro;Leu17... |
| NM_001614.3:c.[488T>A;511C>T;513C>A;520G>C;527T>A] | NP_001605.1:p.[Val163Glu;Leu171Ser;Ala174Pro;Leu176Gln] |
| NM_001614.4:c.[488T>A;511C>T;513C>A;520G>C;527T>A] | NP_001605.1:p.[Val163Glu;Leu171Phe;Leu171=;Ala174Pro;Leu176Gl... |
| NR_037688.1:n.[627T>A;650C>T;652C>A;659G>C;666T>A] | |
| NR_037688.2:n.[560T>A;583C>T;585C>A;592G>C;599T>A] | |
| NR_037688.3:n.[560T>A;583C>T;585C>A;592G>C;599T>A] | |
| ENST00000331925.6:c.[488T>A;511C>T;513C>A;520G>C;527T>A] | ENSP00000331514.2:p.[Val163Glu;Leu171Phe;Leu171=;Ala174Pro;Le... |
| ENST00000570382.2:c.[488T>A;511C>T;513C>A;520G>C;527T>A] | ENSP00000466346.2:p.[Val163Glu;Leu171Phe;Leu171=;Ala174Pro;Le... |
| ENST00000571691.5:c.[461T>A;484C>T;486C>A;493G>C;500T>A] | ENSP00000461407.1:p.[Val154Glu;Leu162Phe;Leu162=;Ala165Pro;Le... |
| ENST00000571691.6:c.[416T>A;439C>T;441C>A;448G>C;455T>A] | ENSP00000461407.2:p.[Val139Glu;Leu147Phe;Leu147=;Ala150Pro;Le... |
| ENST00000571721.6:c.[488T>A;511C>T;513C>A;520G>C;527T>A] | ENSP00000460660.2:p.[Val163Glu;Leu171Phe;Leu171=;Ala174Pro;Le... |
| ENST00000572105.6:c.[529T>A;552C>T;554C>A;561G>C;568T>A] | ENSP00000462823.1:p.[Cys177Ser;Pro184=;Ser185Tyr;Thr187=;Cys1... |
| ENST00000572105.7:c.[529T>A;552C>T;554C>A;561G>C;568T>A] | ENSP00000462823.1:p.[Cys177Ser;Pro184=;Ser185Tyr;Thr187=;Cys1... |
| ENST00000573283.5:c.[488T>A;511C>T;513C>A;520G>C;527T>A] | ENSP00000458435.1:p.[Val163Glu;Leu171Ter] |
| ENST00000574671.5:n.[347T>A;370C>T;372C>A;379G>C;386T>A] | |
| ENST00000574671.6:n.[888T>A;911C>T;913C>A;920G>C;927T>A] | |
| ENST00000575087.5:c.[488T>A;511C>T;513C>A;520G>C;527T>A] | ENSP00000459124.1:p.[Val163Glu;Leu171Phe;Leu171=;Ala174Pro;Le... |
| ENST00000575659.5:c.[488T>A;511C>T;513C>A;520G>C;527T>A] | ENSP00000459119.1:p.[Val163Glu;Leu171=;Ala174Pro;Leu176Gln] |
| ENST00000575659.6:c.[488T>A;511C>T;513C>A;520G>C;527T>A] | ENSP00000459119.2:p.[Val163Glu;Leu171=;Ala174Pro;Leu176Gln] |
| ENST00000575842.5:c.[488T>A;511C>T;513C>A;520G>C;527T>A] | ENSP00000458162.1:p.[Val163Glu;Leu171Ser;Ala174Pro;Leu176Gln]... |
| ENST00000575994.5:c.[488T>A;511C>T;513C>A;520G>C;527T>A] | ENSP00000460464.1:p.[Val163Glu;Leu171Phe;Leu171=;Ala174Pro;Le... |
| ENST00000575994.6:c.[488T>A;511C>T;513C>A;520G>C;527T>A] | ENSP00000460464.2:p.[Val163Glu;Leu171Phe;Leu171=;Ala174Pro;Le... |
| ENST00000576209.5:n.[373T>A;396C>T;398C>A;405G>C;412T>A] | |
| ENST00000576214.2:n.[686T>A;709C>T;711C>A;718G>C;725T>A] | |
| ENST00000576214.3:n.[789T>A;812C>T;814C>A;821G>C;828T>A] | |
| ENST00000576544.5:c.[488T>A;511C>T;513C>A;520G>C;527T>A] | ENSP00000461672.1:p.[Val163Glu;Leu171Ser;Ala174Pro;Leu176Gln]... |
| ENST00000576544.6:c.[488T>A;511C>T;513C>A;520G>C;527T>A] | ENSP00000461672.1:p.[Val163Glu;Leu171Ser;Ala174Pro;Leu176Gln]... |
| ENST00000576917.5:n.[541T>A;564C>T;566C>A;573G>C;580T>A] | |
| ENST00000615544.4:c.[488T>A;511C>T;513C>A;520G>C;527T>A] | ENSP00000477968.1:p.[Val163Glu;Leu171Ser;Ala174Pro;Leu176Gln]... |
| ENST00000615544.5:c.[488T>A;511C>T;513C>A;520G>C;527T>A] | ENSP00000477968.1:p.[Val163Glu;Leu171Phe;Leu171=;Ala174Pro;Le... |
| ENST00000644774.2:c.[461T>A;484C>T;486C>A;493G>C;500T>A] | ENSP00000493648.2:p.[Val154Glu;Leu162Phe;Leu162=;Ala165Pro;Le... |
| ENST00000679410.1:n.[612T>A;635C>T;637C>A;644G>C;651T>A] | |
| ENST00000679480.1:c.[488T>A;511C>T;513C>A;520G>C;527T>A] | ENSP00000506201.1:p.[Val163Glu;Leu171Phe;Leu171=;Ala174Pro;Le... |
| ENST00000679535.1:n.[789T>A;812C>T;814C>A;821G>C;828T>A] | |
| ENST00000679778.1:c.[488T>A;511C>T;513C>A;520G>C;527T>A] | ENSP00000505235.1:p.[Val163Glu;Leu171Ter] |
| ENST00000680227.1:c.[488T>A;511C>T;513C>A;520G>C;527T>A] | ENSP00000506253.1:p.[Val163Glu;Leu171Phe;Leu171=;Ala174Pro;Le... |
| ENST00000680727.1:c.[488T>A;511C>T;513C>A;520G>C;527T>A] | ENSP00000505193.1:p.[Val163Glu;Leu171Phe;Leu171=;Ala174Pro;Le... |
| ENST00000681052.1:c.[488T>A;511C>T;513C>A;520G>C;527T>A] | ENSP00000505060.1:p.[Val163Glu;Leu171Phe;Leu171=;Ala174Pro;Le... |
| ENST00000681092.1:c.[*292T>A;*315C>T;*317C>A;*324G>C;*331T>A] | ENSP00000506720.1:n.[*292T>A;*315C>T;*317C>A;*324G>C;*331T>A]... |
| ENST00000681842.1:c.[488T>A;511C>T;513C>A;520G>C;527T>A] | ENSP00000506126.1:p.[Val163Glu;Leu171Phe;Leu171=;Ala174Pro;Le... |