Canonical Allele Identifier: CA2840291439

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047690dup , CM000679.2:g.43047690dup	GRCh38
NC_000017.10:g.41199707dup , CM000679.1:g.41199707dup	GRCh37
NC_000017.9:g.38453233dup	NCBI36
NG_005905.2:g.170295dup , LRG_292:g.170295dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5418dup	ENSP00000417241.2:p.Val1807CysfsTer22
ENST00000470026.6:c.5421dup	ENSP00000419274.2:p.Val1808CysfsTer22
ENST00000473961.6:c.5295dup	ENSP00000420201.2:p.Val1766CysfsTer22
ENST00000476777.6:c.5415dup	ENSP00000417554.2:p.Val1806CysfsTer22
ENST00000477152.6:c.5343dup	ENSP00000419988.2:p.Val1782CysfsTer22
ENST00000478531.6:c.2109dup	ENSP00000420412.2:p.Val704CysfsTer22
ENST00000489037.2:c.5343dup	ENSP00000420781.2:p.Val1782CysfsTer22
ENST00000493919.6:c.1971dup	ENSP00000418819.2:p.Val658CysfsTer22
ENST00000494123.6:c.5421dup	ENSP00000419103.2:p.Val1808CysfsTer22
ENST00000497488.2:c.4533dup	ENSP00000418986.2:p.Val1512CysfsTer22
ENST00000618469.2:c.5421dup	ENSP00000478114.2:p.Val1808CysfsTer22
ENST00000634433.2:c.5298dup	ENSP00000489431.2:p.Val1767CysfsTer22
ENST00000644379.2:c.5487dup	ENSP00000496570.2:p.Val1830CysfsTer22
ENST00000644555.2:c.1971dup	ENSP00000494614.2:p.Val658CysfsTer22
ENST00000652672.2:c.5280dup	ENSP00000498906.2:p.Val1761CysfsTer22
ENST00000484087.6:c.1983dup	ENSP00000419481.2:p.Val662CysfsTer22
ENST00000700081.1:n.1304dup
ENST00000700082.1:n.785dup
ENST00000357654.9:c.5421dup MANE Select	ENSP00000350283.3:p.Val1808CysfsTer22
ENST00000471181.7:c.5484dup	ENSP00000418960.2:p.Val1829CysfsTer22
ENST00000644379.1:c.1808dup
ENST00000352993.7:c.1995dup	ENSP00000312236.5:p.Val666CysfsTer22
ENST00000357654.7:c.5421dup	ENSP00000350283.3:p.Val1808CysfsTer22
ENST00000461221.5:c.*5204dup	ENSP00000418548.1:n.*5204dup
ENST00000468300.5:c.2035dup	ENSP00000417148.1:p.Cys679LeufsTer27
ENST00000471181.6:c.5484dup	ENSP00000418960.2:p.Val1829CysfsTer22
ENST00000491747.6:c.2109dup	ENSP00000420705.2:p.Val704CysfsTer22
ENST00000493795.5:c.5280dup	ENSP00000418775.1:p.Val1761CysfsTer22
ENST00000586385.5:c.351dup	ENSP00000465818.1:p.Val118CysfsTer22
ENST00000591534.5:c.894dup	ENSP00000467329.1:p.Val299CysfsTer22
ENST00000591849.5:c.120dup	ENSP00000465347.1:p.Val41CysfsTer22
NM_007294.3:c.5421dup , LRG_292t1:c.5421dup	NP_009225.1:p.Val1808CysfsTer22
NM_007297.3:c.5280dup	NP_009228.2:p.Val1761CysfsTer22
NM_007298.3:c.2109dup	NP_009229.2:p.Val704CysfsTer22
NM_007299.3:c.2035dup	NP_009230.2:p.Cys679LeufsTer27
NM_007300.3:c.5484dup	NP_009231.2:p.Val1829CysfsTer22
NR_027676.1:n.5557dup
NM_007294.4:c.5421dup MANE Select	NP_009225.1:p.Val1808CysfsTer22
NM_007297.4:c.5280dup	NP_009228.2:p.Val1761CysfsTer22
NM_007299.4:c.2035dup	NP_009230.2:p.Cys679LeufsTer27
NM_007300.4:c.5484dup	NP_009231.2:p.Val1829CysfsTer22
NR_027676.2:n.5598dup