Canonical Allele Identifier: CA2499224581

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094742_43094743del , CM000679.2:g.43094742_43094743del	GRCh38
NC_000017.10:g.41246759_41246760del , CM000679.1:g.41246759_41246760del	GRCh37
NC_000017.9:g.38500285_38500286del	NCBI36
NG_005905.2:g.123241_123242del , LRG_292:g.123241_123242del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.852_853del
ENST00000461574.2:c.788_789del	ENSP00000417241.2:p.Gly263GlufsTer23
ENST00000470026.6:c.788_789del	ENSP00000419274.2:p.Gly263GlufsTer23
ENST00000473961.6:c.662_663del	ENSP00000420201.2:p.Gly221GlufsTer23
ENST00000476777.6:c.785_786del	ENSP00000417554.2:p.Gly262GlufsTer23
ENST00000477152.6:c.710_711del	ENSP00000419988.2:p.Gly237GlufsTer23
ENST00000478531.6:c.784+1_784+2del	ENSP00000420412.2:n.784+1_784+2del
ENST00000489037.2:c.710_711del	ENSP00000420781.2:p.Gly237GlufsTer23
ENST00000493919.6:c.646+1_646+2del	ENSP00000418819.2:n.646+1_646+2del
ENST00000494123.6:c.788_789del	ENSP00000419103.2:p.Gly263GlufsTer23
ENST00000497488.2:c.-101_-100del	ENSP00000418986.2:n.-101_-100del
ENST00000618469.2:c.788_789del	ENSP00000478114.2:p.Gly263GlufsTer23
ENST00000634433.2:c.665_666del	ENSP00000489431.2:p.Gly222GlufsTer23
ENST00000644379.2:c.788_789del	ENSP00000496570.2:p.Gly263GlufsTer23
ENST00000644555.2:c.646+1_646+2del	ENSP00000494614.2:n.646+1_646+2del
ENST00000652672.2:c.647_648del	ENSP00000498906.2:p.Gly216GlufsTer23
ENST00000484087.6:c.664+1_664+2del	ENSP00000419481.2:n.664+1_664+2del
ENST00000700182.1:c.706+1_706+2del	ENSP00000514849.1:n.706+1_706+2del
ENST00000700183.1:c.*796_*797del	ENSP00000514850.1:n.*796_*797del
ENST00000357654.9:c.788_789del MANE Select	ENSP00000350283.3:p.Gly263GlufsTer23
ENST00000471181.7:c.788_789del	ENSP00000418960.2:p.Gly263GlufsTer23
ENST00000642945.1:c.*662_*663del	ENSP00000495897.1:n.*662_*663del
ENST00000652672.1:c.647_648del	ENSP00000498906.1:p.Gly216GlufsTer23
ENST00000352993.7:c.670+1103_670+1104del	ENSP00000312236.5:n.670+1103_670+1104del
ENST00000354071.7:c.788_789del	ENSP00000326002.7:p.Gly263GlufsTer23
ENST00000357654.7:c.788_789del	ENSP00000350283.3:p.Gly263GlufsTer23
ENST00000412061.3:c.139_140del
ENST00000461221.5:c.*571_*572del	ENSP00000418548.1:n.*571_*572del
ENST00000468300.5:c.787+1_787+2del	ENSP00000417148.1:n.787+1_787+2del
ENST00000470026.5:c.788_789del	ENSP00000419274.1:p.Gly263GlufsTer23
ENST00000471181.6:c.788_789del	ENSP00000418960.2:p.Gly263GlufsTer23
ENST00000473961.5:c.385_386del
ENST00000477152.5:c.710_711del	ENSP00000419988.1:p.Gly237GlufsTer23
ENST00000478531.5:c.784+1_784+2del	ENSP00000420412.1:n.784+1_784+2del
ENST00000484087.5:c.409+1_409+2del	ENSP00000419481.1:n.409+1_409+2del
ENST00000487825.5:c.412+1_412+2del	ENSP00000418212.1:n.412+1_412+2del
ENST00000491747.6:c.787+1_787+2del	ENSP00000420705.2:n.787+1_787+2del
ENST00000492859.5:c.*724_*725del	ENSP00000420253.1:n.*724_*725del
ENST00000493795.5:c.647_648del	ENSP00000418775.1:p.Gly216GlufsTer23
ENST00000493919.5:c.646+1_646+2del	ENSP00000418819.1:n.646+1_646+2del
ENST00000494123.5:c.788_789del	ENSP00000419103.1:p.Gly263GlufsTer23
ENST00000497488.1:c.-101_-100del	ENSP00000418986.1:n.-101_-100del
ENST00000586385.5:c.4+30439_4+30440del	ENSP00000465818.1:n.4+30439_4+30440del
ENST00000591534.5:c.-43-20222_-43-20221del	ENSP00000467329.1:n.-43-20222_-43-20221del
ENST00000591849.5:c.-99+30528_-99+30529del	ENSP00000465347.1:n.-99+30528_-99+30529del
ENST00000634433.1:c.665_666del	ENSP00000489431.1:p.Gly222GlufsTer23
NM_007294.3:c.788_789del , LRG_292t1:c.788_789del	NP_009225.1:p.Gly263GlufsTer23
NM_007297.3:c.647_648del	NP_009228.2:p.Gly216GlufsTer23
NM_007298.3:c.787+1_787+2del	NP_009229.2:n.787+1_787+2del
NM_007299.3:c.787+1_787+2del	NP_009230.2:n.787+1_787+2del
NM_007300.3:c.788_789del	NP_009231.2:p.Gly263GlufsTer23
NR_027676.1:n.924_925del
NM_007294.4:c.788_789del MANE Select	NP_009225.1:p.Gly263GlufsTer23
NM_007297.4:c.647_648del	NP_009228.2:p.Gly216GlufsTer23
NM_007299.4:c.787+1_787+2del	NP_009230.2:n.787+1_787+2del
NM_007300.4:c.788_789del	NP_009231.2:p.Gly263GlufsTer23
NR_027676.2:n.965_966del