Canonical Allele Identifier: CA2850446915

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047700dup , CM000679.2:g.43047700dup	GRCh38
NC_000017.10:g.41199717dup , CM000679.1:g.41199717dup	GRCh37
NC_000017.9:g.38453243dup	NCBI36
NG_005905.2:g.170284dup , LRG_292:g.170284dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5407dup	ENSP00000417241.2:p.Val1803GlyfsTer26
ENST00000470026.6:c.5410dup	ENSP00000419274.2:p.Val1804GlyfsTer26
ENST00000473961.6:c.5284dup	ENSP00000420201.2:p.Val1762GlyfsTer26
ENST00000476777.6:c.5404dup	ENSP00000417554.2:p.Val1802GlyfsTer26
ENST00000477152.6:c.5332dup	ENSP00000419988.2:p.Val1778GlyfsTer26
ENST00000478531.6:c.2098dup	ENSP00000420412.2:p.Val700GlyfsTer26
ENST00000489037.2:c.5332dup	ENSP00000420781.2:p.Val1778GlyfsTer26
ENST00000493919.6:c.1960dup	ENSP00000418819.2:p.Val654GlyfsTer26
ENST00000494123.6:c.5410dup	ENSP00000419103.2:p.Val1804GlyfsTer26
ENST00000497488.2:c.4522dup	ENSP00000418986.2:p.Val1508GlyfsTer26
ENST00000618469.2:c.5410dup	ENSP00000478114.2:p.Val1804GlyfsTer26
ENST00000634433.2:c.5287dup	ENSP00000489431.2:p.Val1763GlyfsTer26
ENST00000644379.2:c.5476dup	ENSP00000496570.2:p.Val1826GlyfsTer26
ENST00000644555.2:c.1960dup	ENSP00000494614.2:p.Val654GlyfsTer26
ENST00000652672.2:c.5269dup	ENSP00000498906.2:p.Val1757GlyfsTer26
ENST00000484087.6:c.1972dup	ENSP00000419481.2:p.Val658GlyfsTer26
ENST00000700081.1:n.1293dup
ENST00000700082.1:n.774dup
ENST00000357654.9:c.5410dup MANE Select	ENSP00000350283.3:p.Val1804GlyfsTer26
ENST00000471181.7:c.5473dup	ENSP00000418960.2:p.Val1825GlyfsTer26
ENST00000644379.1:c.1797dup
ENST00000352993.7:c.1984dup	ENSP00000312236.5:p.Val662GlyfsTer26
ENST00000357654.7:c.5410dup	ENSP00000350283.3:p.Val1804GlyfsTer26
ENST00000461221.5:c.*5193dup	ENSP00000418548.1:n.*5193dup
ENST00000468300.5:c.2024dup	ENSP00000417148.1:p.Cys675TrpfsTer31
ENST00000471181.6:c.5473dup	ENSP00000418960.2:p.Val1825GlyfsTer26
ENST00000491747.6:c.2098dup	ENSP00000420705.2:p.Val700GlyfsTer26
ENST00000493795.5:c.5269dup	ENSP00000418775.1:p.Val1757GlyfsTer26
ENST00000586385.5:c.340dup	ENSP00000465818.1:p.Val114GlyfsTer26
ENST00000591534.5:c.883dup	ENSP00000467329.1:p.Val295GlyfsTer26
ENST00000591849.5:c.109dup	ENSP00000465347.1:p.Val37GlyfsTer26
NM_007294.3:c.5410dup , LRG_292t1:c.5410dup	NP_009225.1:p.Val1804GlyfsTer26
NM_007297.3:c.5269dup	NP_009228.2:p.Val1757GlyfsTer26
NM_007298.3:c.2098dup	NP_009229.2:p.Val700GlyfsTer26
NM_007299.3:c.2024dup	NP_009230.2:p.Cys675TrpfsTer31
NM_007300.3:c.5473dup	NP_009231.2:p.Val1825GlyfsTer26
NR_027676.1:n.5546dup
NM_007294.4:c.5410dup MANE Select	NP_009225.1:p.Val1804GlyfsTer26
NM_007297.4:c.5269dup	NP_009228.2:p.Val1757GlyfsTer26
NM_007299.4:c.2024dup	NP_009230.2:p.Cys675TrpfsTer31
NM_007300.4:c.5473dup	NP_009231.2:p.Val1825GlyfsTer26
NR_027676.2:n.5587dup