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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511449C>A;81511451A>T;81511485A>C;81511501C>G] , CM000679.2:g.[81511449C>A;81511451A>T;81511485A>C;81511501C>G] | GRCh38 |
| NC_000017.10:g.[79478475C>A;79478477A>T;79478511A>C;79478527C>G] , CM000679.1:g.[79478475C>A;79478477A>T;79478511A>C;79478527C>G] | GRCh37 |
| NC_000017.9:g.[77093070C>A;77093072A>T;77093106A>C;77093122C>G] | NCBI36 |
| NG_011433.1:g.[6301G>C;6317T>G;6351T>A;6353G>T] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[489G>C;505T>G;539T>A;541G>T] | ENSP00000466346.2:p.[Val163=;Tyr169Asp;Leu180_Ala181delinsHis... | |
| ENST00000571691.6:c.[417G>C;433T>G;467T>A;469G>T] | ENSP00000461407.2:p.[Val139=;Tyr145Asp;Leu156_Ala157delinsHis... | |
| ENST00000571721.6:c.[489G>C;505T>G;539T>A;541G>T] | ENSP00000460660.2:p.[Val163=;Tyr169Asp;Leu180_Ala181delinsGln... | |
| ENST00000572105.7:c.[530G>C;546T>G;580T>A;582G>T] | ENSP00000462823.1:p.[Cys177Ser;Ala182=;Trp194Ile] | |
| ENST00000573283.7:c.[489G>C;505T>G;539T>A;541G>T] MANE Select | ENSP00000458435.1:p.[Val163=;Tyr169Asp;Leu180_Ala181delinsGln... | |
| ENST00000574671.6:n.[889G>C;905T>G;939T>A;941G>T] | ||
| ENST00000575659.6:c.[489G>C;505T>G;539T>A;541G>T] | ENSP00000459119.2:p.[Val163=;Tyr169Asp;Leu180Gln;Ala181Ser] | |
| ENST00000575994.6:c.[489G>C;505T>G;539T>A;541G>T] | ENSP00000460464.2:p.[Val163=;Tyr169Asp;Leu180Gln;Ala181Ser] | |
| ENST00000576214.3:n.[790G>C;806T>G;840T>A;842G>T] | ||
| ENST00000576544.6:c.[489G>C;505T>G;539T>A;541G>T] | ENSP00000461672.1:p.[Val163=;Tyr169Asp;Leu180Gln;Ala181Ser] | |
| ENST00000615544.5:c.[489G>C;505T>G;539T>A;541G>T] | ENSP00000477968.1:p.[Val163=;Tyr169Asp;Leu180Gln;Ala181Ser] | |
| ENST00000644774.2:c.[462G>C;478T>G;512T>A;514G>T] | ENSP00000493648.2:p.[Val154=;Tyr160Asp;Leu171_Ala172delinsGln... | |
| ENST00000679410.1:n.[613G>C;629T>G;663T>A;665G>T] | ||
| ENST00000679480.1:c.[489G>C;505T>G;539T>A;541G>T] | ENSP00000506201.1:p.[Val163=;Tyr169Asp;Leu180Gln;Ala181Ser] | |
| ENST00000679535.1:n.[790G>C;806T>G;840T>A;842G>T] | ||
| ENST00000679778.1:c.[489G>C;505T>G;539T>A;541G>T] | ENSP00000505235.1:p.[Val163=;Tyr169Asp;Leu180Gln;Ala181Ser] | |
| ENST00000680227.1:c.[489G>C;505T>G;539T>A;541G>T] | ENSP00000506253.1:p.[Val163=;Tyr169Asp;Leu180_Ala181delinsHis... | |
| ENST00000680727.1:c.[489G>C;505T>G;539T>A;541G>T] | ENSP00000505193.1:p.[Val163=;Tyr169Asp;Leu180_Ala181delinsHis... | |
| ENST00000681052.1:c.[489G>C;505T>G;539T>A;541G>T] | ENSP00000505060.1:p.[Val163=;Tyr169Asp;Leu180Gln;Ala181Ser] | |
| ENST00000681092.1:c.[*293G>C;*309T>G;*343T>A;*345G>T] | ENSP00000506720.1:n.[*293G>C;*309T>G;*343T>A;*345G>T] | |
| ENST00000681842.1:c.[489G>C;505T>G;539T>A;541G>T] | ENSP00000506126.1:p.[Val163=;Tyr169Asp;Leu180_Ala181delinsGln... | |
| ENST00000331925.6:c.[489G>C;505T>G;539T>A;541G>T] | ENSP00000331514.2:p.[Val163=;Tyr169Asp;Leu180_Ala181delinsGln... | |
| ENST00000571691.5:c.[462G>C;478T>G;512T>A;514G>T] | ENSP00000461407.1:p.[Val154=;Tyr160Asp;Leu171_Ala172delinsGln... | |
| ENST00000572105.6:c.[530G>C;546T>G;580T>A;582G>T] | ENSP00000462823.1:p.[Cys177Ser;Ala182=;Trp194Arg;Trp194Cys] | |
| ENST00000573283.5:c.[489G>C;505T>G;539T>A;541G>T] | ENSP00000458435.1:p.[Val163=;Tyr169Asp;Leu180Gln;Ala181Ser] | |
| ENST00000574671.5:n.[348G>C;364T>G;398T>A;400G>T] | ||
| ENST00000575087.5:c.[489G>C;505T>G;539T>A;541G>T] | ENSP00000459124.1:p.[Val163=;Tyr169Asp;Leu180Gln;Ala181Ser] | |
| ENST00000575659.5:c.[489G>C;505T>G;539T>A;541G>T] | ENSP00000459119.1:p.[Val163=;Tyr169Asp;Leu180Gln;Ala181Ser] | |
| ENST00000575842.5:c.[489G>C;505T>G;539T>A;541G>T] | ENSP00000458162.1:p.[Val163=;Tyr169Asp;Leu180Gln;Ala181Ser] | |
| ENST00000575994.5:c.[489G>C;505T>G;539T>A;541G>T] | ENSP00000460464.1:p.[Val163=;Tyr169Asp;Leu180Gln;Ala181Ser] | |
| ENST00000576209.5:n.[374G>C;390T>G;424T>A;426G>T] | ||
| ENST00000576214.2:n.[687G>C;703T>G;737T>A;739G>T] | ||
| ENST00000576544.5:c.[489G>C;505T>G;539T>A;541G>T] | ENSP00000461672.1:p.[Val163=;Tyr169Asp;Leu180Gln;Ala181Ser] | |
| ENST00000576917.5:n.[542G>C;558T>G;592T>A;594G>T] | ||
| ENST00000615544.4:c.[489G>C;505T>G;539T>A;541G>T] | ENSP00000477968.1:p.[Val163=;Tyr169Asp;Leu180Gln;Ala181Ser] | |
| NM_001199954.1:c.[489G>C;505T>G;539T>A;541G>T] | NP_001186883.1:p.[Val163=;Tyr169Asp;Leu180_Ala181delinsHisSer... | |
| NM_001614.3:c.[489G>C;505T>G;539T>A;541G>T] | NP_001605.1:p.[Val163=;Tyr169Asp;Leu180Gln;Ala181Ser] | |
| NR_037688.1:n.[628G>C;644T>G;678T>A;680G>T] | ||
| NM_001199954.2:c.[489G>C;505T>G;539T>A;541G>T] | NP_001186883.1:p.[Val163=;Tyr169Asp;Leu180Gln;Ala181Ser] | |
| NM_001614.4:c.[489G>C;505T>G;539T>A;541G>T] | NP_001605.1:p.[Val163=;Tyr169Asp;Leu180_Ala181delinsGlnSer] | |
| NR_037688.2:n.[561G>C;577T>G;611T>A;613G>T] | ||
| NM_001614.5:c.[489G>C;505T>G;539T>A;541G>T] MANE Select | NP_001605.1:p.[Val163=;Tyr169Asp;Leu180_Ala181delinsGlnSer] | |
| NR_037688.3:n.[561G>C;577T>G;611T>A;613G>T] | ||
| NM_001199954.3:c.[489G>C;505T>G;539T>A;541G>T] | NP_001186883.1:p.[Val163=;Tyr169Asp;Leu180Gln;Ala181Ser] |