Canonical Allele Identifier: CA001122
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 54331
dbSNP Id: rs80357640

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43093817_43093821del , CM000679.2:g.43093817_43093821del GRCh38
NC_000017.10:g.41245834_41245838del , CM000679.1:g.41245834_41245838del GRCh37
NC_000017.9:g.38499360_38499364del NCBI36
NG_005905.2:g.124166_124170del , LRG_292:g.124166_124170del

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.1777_1781del
ENST00000461574.2:c.1713_1717del ENSP00000417241.2:p.Glu572ThrfsTer12
ENST00000470026.6:c.1713_1717del ENSP00000419274.2:p.Glu572ThrfsTer12
ENST00000473961.6:c.1587_1591del ENSP00000420201.2:p.Glu530ThrfsTer12
ENST00000476777.6:c.1710_1714del ENSP00000417554.2:p.Glu571ThrfsTer12
ENST00000477152.6:c.1635_1639del ENSP00000419988.2:p.Glu546ThrfsTer12
ENST00000478531.6:c.784+926_784+930del ENSP00000420412.2:n.784+926_784+930del
ENST00000489037.2:c.1635_1639del ENSP00000420781.2:p.Glu546ThrfsTer12
ENST00000493919.6:c.646+926_646+930del ENSP00000418819.2:n.646+926_646+930del
ENST00000494123.6:c.1713_1717del ENSP00000419103.2:p.Glu572ThrfsTer12
ENST00000497488.2:c.825_829del ENSP00000418986.2:p.Glu276ThrfsTer12
ENST00000618469.2:c.1713_1717del ENSP00000478114.2:p.Glu572ThrfsTer12
ENST00000634433.2:c.1590_1594del ENSP00000489431.2:p.Glu531ThrfsTer12
ENST00000644379.2:c.1713_1717del ENSP00000496570.2:p.Glu572ThrfsTer12
ENST00000644555.2:c.646+926_646+930del ENSP00000494614.2:n.646+926_646+930del
ENST00000652672.2:c.1572_1576del ENSP00000498906.2:p.Glu525ThrfsTer12
ENST00000484087.6:c.664+926_664+930del ENSP00000419481.2:n.664+926_664+930del
ENST00000700182.1:c.706+926_706+930del ENSP00000514849.1:n.706+926_706+930del
ENST00000357654.9:c.1713_1717del MANE Select ENSP00000350283.3:p.Glu572ThrfsTer12
ENST00000471181.7:c.1713_1717del ENSP00000418960.2:p.Glu572ThrfsTer12
ENST00000652672.1:c.1572_1576del ENSP00000498906.1:p.Glu525ThrfsTer12
ENST00000352993.7:c.670+2028_670+2032del ENSP00000312236.5:n.670+2028_670+2032del
ENST00000354071.7:c.1713_1717del ENSP00000326002.7:p.Glu572ThrfsTer12
ENST00000357654.7:c.1713_1717del ENSP00000350283.3:p.Glu572ThrfsTer12
ENST00000412061.3:c.1064_1068del
ENST00000461221.5:c.*1496_*1500del ENSP00000418548.1:n.*1496_*1500del
ENST00000468300.5:c.787+926_787+930del ENSP00000417148.1:n.787+926_787+930del
ENST00000470026.5:c.1713_1717del ENSP00000419274.1:p.Glu572ThrfsTer12
ENST00000471181.6:c.1713_1717del ENSP00000418960.2:p.Glu572ThrfsTer12
ENST00000477152.5:c.1635_1639del ENSP00000419988.1:p.Glu546ThrfsTer12
ENST00000478531.5:c.784+926_784+930del ENSP00000420412.1:n.784+926_784+930del
ENST00000484087.5:c.409+926_409+930del ENSP00000419481.1:n.409+926_409+930del
ENST00000487825.5:c.412+926_412+930del ENSP00000418212.1:n.412+926_412+930del
ENST00000491747.6:c.787+926_787+930del ENSP00000420705.2:n.787+926_787+930del
ENST00000493795.5:c.1572_1576del ENSP00000418775.1:p.Glu525ThrfsTer12
ENST00000493919.5:c.646+926_646+930del ENSP00000418819.1:n.646+926_646+930del
ENST00000586385.5:c.5-29867_5-29863del ENSP00000465818.1:n.5-29867_5-29863del
ENST00000591534.5:c.-43-19297_-43-19293del ENSP00000467329.1:n.-43-19297_-43-19293de...
ENST00000591849.5:c.-99+31453_-99+31457del ENSP00000465347.1:n.-99+31453_-99+31457de...
ENST00000634433.1:c.1590_1594del ENSP00000489431.1:p.Glu531ThrfsTer12
NM_007294.3:c.1713_1717del , LRG_292t1:c.1713_1717del NP_009225.1:p.Glu572ThrfsTer12
NM_007297.3:c.1572_1576del NP_009228.2:p.Glu525ThrfsTer12
NM_007298.3:c.787+926_787+930del NP_009229.2:n.787+926_787+930del
NM_007299.3:c.787+926_787+930del NP_009230.2:n.787+926_787+930del
NM_007300.3:c.1713_1717del NP_009231.2:p.Glu572ThrfsTer12
NR_027676.1:n.1849_1853del
NM_007294.4:c.1713_1717del MANE Select NP_009225.1:p.Glu572ThrfsTer12
NM_007297.4:c.1572_1576del NP_009228.2:p.Glu525ThrfsTer12
NM_007299.4:c.787+926_787+930del NP_009230.2:n.787+926_787+930del
NM_007300.4:c.1713_1717del NP_009231.2:p.Glu572ThrfsTer12
NR_027676.2:n.1890_1894del