Canonical Allele Identifier: CA327757
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43093908dup , CM000679.2:g.43093908dup GRCh38
NC_000017.10:g.41245925dup , CM000679.1:g.41245925dup GRCh37
NC_000017.9:g.38499451dup NCBI36
NG_005905.2:g.124076dup , LRG_292:g.124076dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.1687dup
ENST00000461574.2:c.1623dup ENSP00000417241.2:p.Asn542GlufsTer9
ENST00000470026.6:c.1623dup ENSP00000419274.2:p.Asn542GlufsTer9
ENST00000473961.6:c.1497dup ENSP00000420201.2:p.Asn500GlufsTer9
ENST00000476777.6:c.1620dup ENSP00000417554.2:p.Asn541GlufsTer9
ENST00000477152.6:c.1545dup ENSP00000419988.2:p.Asn516GlufsTer9
ENST00000478531.6:c.784+836dup ENSP00000420412.2:n.784+836dup
ENST00000489037.2:c.1545dup ENSP00000420781.2:p.Asn516GlufsTer9
ENST00000493919.6:c.646+836dup ENSP00000418819.2:n.646+836dup
ENST00000494123.6:c.1623dup ENSP00000419103.2:p.Asn542GlufsTer9
ENST00000497488.2:c.735dup ENSP00000418986.2:p.Asn246GlufsTer9
ENST00000618469.2:c.1623dup ENSP00000478114.2:p.Asn542GlufsTer9
ENST00000634433.2:c.1500dup ENSP00000489431.2:p.Asn501GlufsTer9
ENST00000644379.2:c.1623dup ENSP00000496570.2:p.Asn542GlufsTer9
ENST00000644555.2:c.646+836dup ENSP00000494614.2:n.646+836dup
ENST00000652672.2:c.1482dup ENSP00000498906.2:p.Asn495GlufsTer9
ENST00000484087.6:c.664+836dup ENSP00000419481.2:n.664+836dup
ENST00000700182.1:c.706+836dup ENSP00000514849.1:n.706+836dup
ENST00000357654.9:c.1623dup MANE Select ENSP00000350283.3:p.Asn542GlufsTer9
ENST00000471181.7:c.1623dup ENSP00000418960.2:p.Asn542GlufsTer9
ENST00000652672.1:c.1482dup ENSP00000498906.1:p.Asn495GlufsTer9
ENST00000352993.7:c.670+1938dup ENSP00000312236.5:n.670+1938dup
ENST00000354071.7:c.1623dup ENSP00000326002.7:p.Asn542GlufsTer9
ENST00000357654.7:c.1623dup ENSP00000350283.3:p.Asn542GlufsTer9
ENST00000412061.3:c.974dup
ENST00000461221.5:c.*1406dup ENSP00000418548.1:n.*1406dup
ENST00000468300.5:c.787+836dup ENSP00000417148.1:n.787+836dup
ENST00000470026.5:c.1623dup ENSP00000419274.1:p.Asn542GlufsTer9
ENST00000471181.6:c.1623dup ENSP00000418960.2:p.Asn542GlufsTer9
ENST00000477152.5:c.1545dup ENSP00000419988.1:p.Asn516GlufsTer9
ENST00000478531.5:c.784+836dup ENSP00000420412.1:n.784+836dup
ENST00000484087.5:c.409+836dup ENSP00000419481.1:n.409+836dup
ENST00000487825.5:c.412+836dup ENSP00000418212.1:n.412+836dup
ENST00000491747.6:c.787+836dup ENSP00000420705.2:n.787+836dup
ENST00000493795.5:c.1482dup ENSP00000418775.1:p.Asn495GlufsTer9
ENST00000493919.5:c.646+836dup ENSP00000418819.1:n.646+836dup
ENST00000586385.5:c.5-29957dup ENSP00000465818.1:n.5-29957dup
ENST00000591534.5:c.-43-19387dup ENSP00000467329.1:n.-43-19387dup
ENST00000591849.5:c.-99+31363dup ENSP00000465347.1:n.-99+31363dup
ENST00000634433.1:c.1500dup ENSP00000489431.1:p.Asn501GlufsTer9
NM_007294.3:c.1623dup , LRG_292t1:c.1623dup NP_009225.1:p.Asn542GlufsTer9
NM_007297.3:c.1482dup NP_009228.2:p.Asn495GlufsTer9
NM_007298.3:c.787+836dup NP_009229.2:n.787+836dup
NM_007299.3:c.787+836dup NP_009230.2:n.787+836dup
NM_007300.3:c.1623dup NP_009231.2:p.Asn542GlufsTer9
NR_027676.1:n.1759dup
NM_007294.4:c.1623dup MANE Select NP_009225.1:p.Asn542GlufsTer9
NM_007297.4:c.1482dup NP_009228.2:p.Asn495GlufsTer9
NM_007299.4:c.787+836dup NP_009230.2:n.787+836dup
NM_007300.4:c.1623dup NP_009231.2:p.Asn542GlufsTer9
NR_027676.2:n.1800dup