Canonical Allele Identifier: CA2697559915

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2739034
• ClinVar RCV Id: RCV003530998

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067645_43067646del , CM000679.2:g.43067645_43067646del	GRCh38
NC_000017.10:g.41219662_41219663del , CM000679.1:g.41219662_41219663del	GRCh37
NC_000017.9:g.38473188_38473189del	NCBI36
NG_005905.2:g.150338_150339del , LRG_292:g.150338_150339del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5033_5034del	ENSP00000417241.2:p.Leu1678HisfsTer3
ENST00000470026.6:c.5036_5037del	ENSP00000419274.2:p.Leu1679HisfsTer3
ENST00000473961.6:c.4910_4911del	ENSP00000420201.2:p.Leu1637HisfsTer3
ENST00000476777.6:c.5030_5031del	ENSP00000417554.2:p.Leu1677HisfsTer3
ENST00000477152.6:c.4958_4959del	ENSP00000419988.2:p.Leu1653HisfsTer3
ENST00000478531.6:c.1724_1725del	ENSP00000420412.2:p.Leu575HisfsTer3
ENST00000489037.2:c.4958_4959del	ENSP00000420781.2:p.Leu1653HisfsTer3
ENST00000493919.6:c.1586_1587del	ENSP00000418819.2:p.Leu529HisfsTer3
ENST00000494123.6:c.5036_5037del	ENSP00000419103.2:p.Leu1679HisfsTer3
ENST00000497488.2:c.4148_4149del	ENSP00000418986.2:p.Leu1383HisfsTer3
ENST00000618469.2:c.5036_5037del	ENSP00000478114.2:p.Leu1679HisfsTer3
ENST00000634433.2:c.4913_4914del	ENSP00000489431.2:p.Leu1638HisfsTer3
ENST00000644379.2:c.5102_5103del	ENSP00000496570.2:p.Leu1701HisfsTer3
ENST00000644555.2:c.1586_1587del	ENSP00000494614.2:p.Leu529HisfsTer3
ENST00000652672.2:c.4895_4896del	ENSP00000498906.2:p.Leu1632HisfsTer3
ENST00000484087.6:c.1598_1599del	ENSP00000419481.2:p.Leu533HisfsTer3
ENST00000357654.9:c.5036_5037del MANE Select	ENSP00000350283.3:p.Leu1679HisfsTer3
ENST00000471181.7:c.5099_5100del	ENSP00000418960.2:p.Leu1700HisfsTer3
ENST00000644379.1:c.1423_1424del
ENST00000352993.7:c.1610_1611del	ENSP00000312236.5:p.Leu537HisfsTer3
ENST00000357654.7:c.5036_5037del	ENSP00000350283.3:p.Leu1679HisfsTer3
ENST00000461221.5:c.*4819_*4820del	ENSP00000418548.1:n.*4819_*4820del
ENST00000468300.5:c.1724_1725del	ENSP00000417148.1:p.Leu575HisfsTer3
ENST00000471181.6:c.5099_5100del	ENSP00000418960.2:p.Leu1700HisfsTer3
ENST00000472490.1:n.189_190del
ENST00000478531.5:c.1724_1725del	ENSP00000420412.1:p.Leu575HisfsTer3
ENST00000484087.5:c.1349_1350del	ENSP00000419481.1:p.Leu450HisfsTer3
ENST00000491747.6:c.1724_1725del	ENSP00000420705.2:p.Leu575HisfsTer3
ENST00000493795.5:c.4895_4896del	ENSP00000418775.1:p.Leu1632HisfsTer3
ENST00000493919.5:c.1586_1587del	ENSP00000418819.1:p.Leu529HisfsTer3
ENST00000586385.5:c.5-3695_5-3694del	ENSP00000465818.1:n.5-3695_5-3694del
ENST00000591534.5:c.509_510del	ENSP00000467329.1:p.Leu170HisfsTer3
ENST00000591849.5:c.-98-17456_-98-17455del	ENSP00000465347.1:n.-98-17456_-98-17455del
NM_007294.3:c.5036_5037del , LRG_292t1:c.5036_5037del	NP_009225.1:p.Leu1679HisfsTer3
NM_007297.3:c.4895_4896del	NP_009228.2:p.Leu1632HisfsTer3
NM_007298.3:c.1724_1725del	NP_009229.2:p.Leu575HisfsTer3
NM_007299.3:c.1724_1725del	NP_009230.2:p.Leu575HisfsTer3
NM_007300.3:c.5099_5100del	NP_009231.2:p.Leu1700HisfsTer3
NR_027676.1:n.5172_5173del
NM_007294.4:c.5036_5037del MANE Select	NP_009225.1:p.Leu1679HisfsTer3
NM_007297.4:c.4895_4896del	NP_009228.2:p.Leu1632HisfsTer3
NM_007299.4:c.1724_1725del	NP_009230.2:p.Leu575HisfsTer3
NM_007300.4:c.5099_5100del	NP_009231.2:p.Leu1700HisfsTer3
NR_027676.2:n.5213_5214del