Canonical Allele Identifier: CA658761185

Gene: BRCA1

Linked Data

• PubMed: PMID:22762150

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047701_43047702del , CM000679.2:g.43047701_43047702del	GRCh38
NC_000017.10:g.41199718_41199719del , CM000679.1:g.41199718_41199719del	GRCh37
NC_000017.9:g.38453244_38453245del	NCBI36
NG_005905.2:g.170284_170285del , LRG_292:g.170284_170285del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5407_5408del	ENSP00000417241.2:p.Val1803ProfsTer25
ENST00000470026.6:c.5410_5411del	ENSP00000419274.2:p.Val1804ProfsTer25
ENST00000473961.6:c.5284_5285del	ENSP00000420201.2:p.Val1762ProfsTer25
ENST00000476777.6:c.5404_5405del	ENSP00000417554.2:p.Val1802ProfsTer25
ENST00000477152.6:c.5332_5333del	ENSP00000419988.2:p.Val1778ProfsTer25
ENST00000478531.6:c.2098_2099del	ENSP00000420412.2:p.Val700ProfsTer25
ENST00000489037.2:c.5332_5333del	ENSP00000420781.2:p.Val1778ProfsTer25
ENST00000493919.6:c.1960_1961del	ENSP00000418819.2:p.Val654ProfsTer25
ENST00000494123.6:c.5410_5411del	ENSP00000419103.2:p.Val1804ProfsTer25
ENST00000497488.2:c.4522_4523del	ENSP00000418986.2:p.Val1508ProfsTer25
ENST00000618469.2:c.5410_5411del	ENSP00000478114.2:p.Val1804ProfsTer25
ENST00000634433.2:c.5287_5288del	ENSP00000489431.2:p.Val1763ProfsTer25
ENST00000644379.2:c.5476_5477del	ENSP00000496570.2:p.Val1826ProfsTer25
ENST00000644555.2:c.1960_1961del	ENSP00000494614.2:p.Val654ProfsTer25
ENST00000652672.2:c.5269_5270del	ENSP00000498906.2:p.Val1757ProfsTer25
ENST00000484087.6:c.1972_1973del	ENSP00000419481.2:p.Val658ProfsTer25
ENST00000700081.1:n.1293_1294del
ENST00000700082.1:n.774_775del
ENST00000357654.9:c.5410_5411del MANE Select	ENSP00000350283.3:p.Val1804ProfsTer25
ENST00000471181.7:c.5473_5474del	ENSP00000418960.2:p.Val1825ProfsTer25
ENST00000644379.1:c.1797_1798del
ENST00000352993.7:c.1984_1985del	ENSP00000312236.5:p.Val662ProfsTer25
ENST00000357654.7:c.5410_5411del	ENSP00000350283.3:p.Val1804ProfsTer25
ENST00000461221.5:c.*5193_*5194del	ENSP00000418548.1:n.*5193_*5194del
ENST00000468300.5:c.2024_2025del	ENSP00000417148.1:p.Cys675SerfsTer30
ENST00000471181.6:c.5473_5474del	ENSP00000418960.2:p.Val1825ProfsTer25
ENST00000491747.6:c.2098_2099del	ENSP00000420705.2:p.Val700ProfsTer25
ENST00000493795.5:c.5269_5270del	ENSP00000418775.1:p.Val1757ProfsTer25
ENST00000586385.5:c.340_341del	ENSP00000465818.1:p.Val114ProfsTer25
ENST00000591534.5:c.883_884del	ENSP00000467329.1:p.Val295ProfsTer25
ENST00000591849.5:c.109_110del	ENSP00000465347.1:p.Val37ProfsTer25
NM_007294.3:c.5410_5411del , LRG_292t1:c.5410_5411del	NP_009225.1:p.Val1804ProfsTer25
NM_007297.3:c.5269_5270del	NP_009228.2:p.Val1757ProfsTer25
NM_007298.3:c.2098_2099del	NP_009229.2:p.Val700ProfsTer25
NM_007299.3:c.2024_2025del	NP_009230.2:p.Cys675SerfsTer30
NM_007300.3:c.5473_5474del	NP_009231.2:p.Val1825ProfsTer25
NR_027676.1:n.5546_5547del
NM_007294.4:c.5410_5411del MANE Select	NP_009225.1:p.Val1804ProfsTer25
NM_007297.4:c.5269_5270del	NP_009228.2:p.Val1757ProfsTer25
NM_007299.4:c.2024_2025del	NP_009230.2:p.Cys675SerfsTer30
NM_007300.4:c.5473_5474del	NP_009231.2:p.Val1825ProfsTer25
NR_027676.2:n.5587_5588del