Canonical Allele Identifier: CA003180

Gene: BRCA1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067622_43067624del , CM000679.2:g.43067622_43067624del	GRCh38
NC_000017.10:g.41219639_41219641del , CM000679.1:g.41219639_41219641del	GRCh37
NC_000017.9:g.38473165_38473167del	NCBI36
NG_005905.2:g.150364_150366del , LRG_292:g.150364_150366del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5059_5061del	ENSP00000417241.2:p.Val1687del
ENST00000470026.6:c.5062_5064del	ENSP00000419274.2:p.Val1688del
ENST00000473961.6:c.4936_4938del	ENSP00000420201.2:p.Val1646del
ENST00000476777.6:c.5056_5058del	ENSP00000417554.2:p.Val1686del
ENST00000477152.6:c.4984_4986del	ENSP00000419988.2:p.Val1662del
ENST00000478531.6:c.1750_1752del	ENSP00000420412.2:p.Val584del
ENST00000489037.2:c.4984_4986del	ENSP00000420781.2:p.Val1662del
ENST00000493919.6:c.1612_1614del	ENSP00000418819.2:p.Val538del
ENST00000494123.6:c.5062_5064del	ENSP00000419103.2:p.Val1688del
ENST00000497488.2:c.4174_4176del	ENSP00000418986.2:p.Val1392del
ENST00000618469.2:c.5062_5064del	ENSP00000478114.2:p.Val1688del
ENST00000634433.2:c.4939_4941del	ENSP00000489431.2:p.Val1647del
ENST00000644379.2:c.5128_5130del	ENSP00000496570.2:p.Val1710del
ENST00000644555.2:c.1612_1614del	ENSP00000494614.2:p.Val538del
ENST00000652672.2:c.4921_4923del	ENSP00000498906.2:p.Val1641del
ENST00000484087.6:c.1624_1626del	ENSP00000419481.2:p.Val542del
ENST00000357654.9:c.5062_5064del MANE Select	ENSP00000350283.3:p.Val1688del
ENST00000471181.7:c.5125_5127del	ENSP00000418960.2:p.Val1709del
ENST00000644379.1:c.1449_1451del
ENST00000352993.7:c.1636_1638del	ENSP00000312236.5:p.Val546del
ENST00000357654.7:c.5062_5064del	ENSP00000350283.3:p.Val1688del
ENST00000461221.5:c.*4845_*4847del	ENSP00000418548.1:n.*4845_*4847del
ENST00000468300.5:c.1750_1752del	ENSP00000417148.1:p.Val584del
ENST00000471181.6:c.5125_5127del	ENSP00000418960.2:p.Val1709del
ENST00000472490.1:n.215_217del
ENST00000478531.5:c.1750_1752del	ENSP00000420412.1:p.Val584del
ENST00000484087.5:c.1375_1377del	ENSP00000419481.1:p.Val459del
ENST00000491747.6:c.1750_1752del	ENSP00000420705.2:p.Val584del
ENST00000493795.5:c.4921_4923del	ENSP00000418775.1:p.Val1641del
ENST00000493919.5:c.1612_1614del	ENSP00000418819.1:p.Val538del
ENST00000586385.5:c.5-3669_5-3667del	ENSP00000465818.1:n.5-3669_5-3667del
ENST00000591534.5:c.535_537del	ENSP00000467329.1:p.Val179del
ENST00000591849.5:c.-98-17430_-98-17428del	ENSP00000465347.1:n.-98-17430_-98-17428del
NM_007294.3:c.5062_5064del , LRG_292t1:c.5062_5064del	NP_009225.1:p.Val1688del
NM_007297.3:c.4921_4923del	NP_009228.2:p.Val1641del
NM_007298.3:c.1750_1752del	NP_009229.2:p.Val584del
NM_007299.3:c.1750_1752del	NP_009230.2:p.Val584del
NM_007300.3:c.5125_5127del	NP_009231.2:p.Val1709del
NR_027676.1:n.5198_5200del
NM_007294.4:c.5062_5064del MANE Select	NP_009225.1:p.Val1688del
NM_007297.4:c.4921_4923del	NP_009228.2:p.Val1641del
NM_007299.4:c.1750_1752del	NP_009230.2:p.Val584del
NM_007300.4:c.5125_5127del	NP_009231.2:p.Val1709del
NR_027676.2:n.5239_5241del