Canonical Allele Identifier: CA2499224447

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091592dup , CM000679.2:g.43091592dup	GRCh38
NC_000017.10:g.41243609dup , CM000679.1:g.41243609dup	GRCh37
NC_000017.9:g.38497135dup	NCBI36
NG_005905.2:g.126393dup , LRG_292:g.126393dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.4004dup
ENST00000461574.2:c.3940dup	ENSP00000417241.2:p.Asp1314GlyfsTer16
ENST00000470026.6:c.3940dup	ENSP00000419274.2:p.Asp1314GlyfsTer16
ENST00000473961.6:c.3814dup	ENSP00000420201.2:p.Asp1272GlyfsTer16
ENST00000476777.6:c.3937dup	ENSP00000417554.2:p.Asp1313GlyfsTer16
ENST00000477152.6:c.3862dup	ENSP00000419988.2:p.Asp1288GlyfsTer16
ENST00000478531.6:c.785-559dup	ENSP00000420412.2:n.785-559dup
ENST00000489037.2:c.3862dup	ENSP00000420781.2:p.Asp1288GlyfsTer16
ENST00000493919.6:c.647-559dup	ENSP00000418819.2:n.647-559dup
ENST00000494123.6:c.3940dup	ENSP00000419103.2:p.Asp1314GlyfsTer16
ENST00000497488.2:c.3052dup	ENSP00000418986.2:p.Asp1018GlyfsTer16
ENST00000618469.2:c.3940dup	ENSP00000478114.2:p.Asp1314GlyfsTer16
ENST00000634433.2:c.3817dup	ENSP00000489431.2:p.Asp1273GlyfsTer16
ENST00000644379.2:c.3940dup	ENSP00000496570.2:p.Asp1314GlyfsTer16
ENST00000644555.2:c.647-559dup	ENSP00000494614.2:n.647-559dup
ENST00000652672.2:c.3799dup	ENSP00000498906.2:p.Asp1267GlyfsTer16
ENST00000484087.6:c.665-559dup	ENSP00000419481.2:n.665-559dup
ENST00000700182.1:c.707-559dup	ENSP00000514849.1:n.707-559dup
ENST00000357654.9:c.3940dup MANE Select	ENSP00000350283.3:p.Asp1314GlyfsTer16
ENST00000471181.7:c.3940dup	ENSP00000418960.2:p.Asp1314GlyfsTer16
ENST00000644379.1:c.261dup
ENST00000352993.7:c.671-559dup	ENSP00000312236.5:n.671-559dup
ENST00000354071.7:c.3940dup	ENSP00000326002.7:p.Asp1314GlyfsTer16
ENST00000357654.7:c.3940dup	ENSP00000350283.3:p.Asp1314GlyfsTer16
ENST00000461221.5:c.*3723dup	ENSP00000418548.1:n.*3723dup
ENST00000461574.1:c.234dup
ENST00000468300.5:c.788-559dup	ENSP00000417148.1:n.788-559dup
ENST00000471181.6:c.3940dup	ENSP00000418960.2:p.Asp1314GlyfsTer16
ENST00000478531.5:c.785-559dup	ENSP00000420412.1:n.785-559dup
ENST00000484087.5:c.410-559dup	ENSP00000419481.1:n.410-559dup
ENST00000487825.5:c.413-559dup	ENSP00000418212.1:n.413-559dup
ENST00000491747.6:c.788-559dup	ENSP00000420705.2:n.788-559dup
ENST00000493795.5:c.3799dup	ENSP00000418775.1:p.Asp1267GlyfsTer16
ENST00000493919.5:c.647-559dup	ENSP00000418819.1:n.647-559dup
ENST00000586385.5:c.5-27640dup	ENSP00000465818.1:n.5-27640dup
ENST00000591534.5:c.-43-17070dup	ENSP00000467329.1:n.-43-17070dup
ENST00000591849.5:c.-99+33680dup	ENSP00000465347.1:n.-99+33680dup
NM_007294.3:c.3940dup , LRG_292t1:c.3940dup	NP_009225.1:p.Asp1314GlyfsTer16
NM_007297.3:c.3799dup	NP_009228.2:p.Asp1267GlyfsTer16
NM_007298.3:c.788-559dup	NP_009229.2:n.788-559dup
NM_007299.3:c.788-559dup	NP_009230.2:n.788-559dup
NM_007300.3:c.3940dup	NP_009231.2:p.Asp1314GlyfsTer16
NR_027676.1:n.4076dup
NM_007294.4:c.3940dup MANE Select	NP_009225.1:p.Asp1314GlyfsTer16
NM_007297.4:c.3799dup	NP_009228.2:p.Asp1267GlyfsTer16
NM_007299.4:c.788-559dup	NP_009230.2:n.788-559dup
NM_007300.4:c.3940dup	NP_009231.2:p.Asp1314GlyfsTer16
NR_027676.2:n.4117dup