Canonical Allele Identifier: CA2499224546

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094229_43094232dup , CM000679.2:g.43094229_43094232dup	GRCh38
NC_000017.10:g.41246246_41246249dup , CM000679.1:g.41246246_41246249dup	GRCh37
NC_000017.9:g.38499772_38499775dup	NCBI36
NG_005905.2:g.123752_123755dup , LRG_292:g.123752_123755dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1363_1366dup
ENST00000461574.2:c.1299_1302dup	ENSP00000417241.2:p.Asp435GlnfsTer2
ENST00000470026.6:c.1299_1302dup	ENSP00000419274.2:p.Asp435GlnfsTer2
ENST00000473961.6:c.1173_1176dup	ENSP00000420201.2:p.Asp393GlnfsTer2
ENST00000476777.6:c.1296_1299dup	ENSP00000417554.2:p.Asp434GlnfsTer2
ENST00000477152.6:c.1221_1224dup	ENSP00000419988.2:p.Asp409GlnfsTer2
ENST00000478531.6:c.784+512_784+515dup	ENSP00000420412.2:n.784+512_784+515dup
ENST00000489037.2:c.1221_1224dup	ENSP00000420781.2:p.Asp409GlnfsTer2
ENST00000493919.6:c.646+512_646+515dup	ENSP00000418819.2:n.646+512_646+515dup
ENST00000494123.6:c.1299_1302dup	ENSP00000419103.2:p.Asp435GlnfsTer2
ENST00000497488.2:c.411_414dup	ENSP00000418986.2:p.Asp139GlnfsTer2
ENST00000618469.2:c.1299_1302dup	ENSP00000478114.2:p.Asp435GlnfsTer2
ENST00000634433.2:c.1176_1179dup	ENSP00000489431.2:p.Asp394GlnfsTer2
ENST00000644379.2:c.1299_1302dup	ENSP00000496570.2:p.Asp435GlnfsTer2
ENST00000644555.2:c.646+512_646+515dup	ENSP00000494614.2:n.646+512_646+515dup
ENST00000652672.2:c.1158_1161dup	ENSP00000498906.2:p.Asp388GlnfsTer2
ENST00000484087.6:c.664+512_664+515dup	ENSP00000419481.2:n.664+512_664+515dup
ENST00000700182.1:c.706+512_706+515dup	ENSP00000514849.1:n.706+512_706+515dup
ENST00000700183.1:c.*1307_*1310dup	ENSP00000514850.1:n.*1307_*1310dup
ENST00000357654.9:c.1299_1302dup MANE Select	ENSP00000350283.3:p.Asp435GlnfsTer2
ENST00000471181.7:c.1299_1302dup	ENSP00000418960.2:p.Asp435GlnfsTer2
ENST00000652672.1:c.1158_1161dup	ENSP00000498906.1:p.Asp388GlnfsTer2
ENST00000352993.7:c.670+1614_670+1617dup	ENSP00000312236.5:n.670+1614_670+1617dup
ENST00000354071.7:c.1299_1302dup	ENSP00000326002.7:p.Asp435GlnfsTer2
ENST00000357654.7:c.1299_1302dup	ENSP00000350283.3:p.Asp435GlnfsTer2
ENST00000412061.3:c.650_653dup
ENST00000461221.5:c.*1082_*1085dup	ENSP00000418548.1:n.*1082_*1085dup
ENST00000468300.5:c.787+512_787+515dup	ENSP00000417148.1:n.787+512_787+515dup
ENST00000470026.5:c.1299_1302dup	ENSP00000419274.1:p.Asp435GlnfsTer2
ENST00000471181.6:c.1299_1302dup	ENSP00000418960.2:p.Asp435GlnfsTer2
ENST00000473961.5:c.896_899dup
ENST00000477152.5:c.1221_1224dup	ENSP00000419988.1:p.Asp409GlnfsTer2
ENST00000478531.5:c.784+512_784+515dup	ENSP00000420412.1:n.784+512_784+515dup
ENST00000484087.5:c.409+512_409+515dup	ENSP00000419481.1:n.409+512_409+515dup
ENST00000487825.5:c.412+512_412+515dup	ENSP00000418212.1:n.412+512_412+515dup
ENST00000491747.6:c.787+512_787+515dup	ENSP00000420705.2:n.787+512_787+515dup
ENST00000492859.5:c.*1235_*1238dup	ENSP00000420253.1:n.*1235_*1238dup
ENST00000493795.5:c.1158_1161dup	ENSP00000418775.1:p.Asp388GlnfsTer2
ENST00000493919.5:c.646+512_646+515dup	ENSP00000418819.1:n.646+512_646+515dup
ENST00000494123.5:c.1299_1302dup	ENSP00000419103.1:p.Asp435GlnfsTer2
ENST00000497488.1:c.411_414dup	ENSP00000418986.1:p.Asp139GlnfsTer2
ENST00000586385.5:c.5-30281_5-30278dup	ENSP00000465818.1:n.5-30281_5-30278dup
ENST00000591534.5:c.-43-19711_-43-19708dup	ENSP00000467329.1:n.-43-19711_-43-19708du...
ENST00000591849.5:c.-99+31039_-99+31042dup	ENSP00000465347.1:n.-99+31039_-99+31042du...
ENST00000634433.1:c.1176_1179dup	ENSP00000489431.1:p.Asp394GlnfsTer2
NM_007294.3:c.1299_1302dup , LRG_292t1:c.1299_1302dup	NP_009225.1:p.Asp435GlnfsTer2
NM_007297.3:c.1158_1161dup	NP_009228.2:p.Asp388GlnfsTer2
NM_007298.3:c.787+512_787+515dup	NP_009229.2:n.787+512_787+515dup
NM_007299.3:c.787+512_787+515dup	NP_009230.2:n.787+512_787+515dup
NM_007300.3:c.1299_1302dup	NP_009231.2:p.Asp435GlnfsTer2
NR_027676.1:n.1435_1438dup
NM_007294.4:c.1299_1302dup MANE Select	NP_009225.1:p.Asp435GlnfsTer2
NM_007297.4:c.1158_1161dup	NP_009228.2:p.Asp388GlnfsTer2
NM_007299.4:c.787+512_787+515dup	NP_009230.2:n.787+512_787+515dup
NM_007300.4:c.1299_1302dup	NP_009231.2:p.Asp435GlnfsTer2
NR_027676.2:n.1476_1479dup