Canonical Allele Identifier: CA10589632

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266510
• ClinVar RCV Id: RCV000257544 ; RCV000985426 ; RCV001216216
• dbSNP Id: rs886040260
• MyVariant Identifiers: chr17:g.41219680del (hg19) ; chr17:g.43067663del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067663del , CM000679.2:g.43067663del	GRCh38
NC_000017.10:g.41219680del , CM000679.1:g.41219680del	GRCh37
NC_000017.9:g.38473206del	NCBI36
NG_005905.2:g.150321del , LRG_292:g.150321del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5016del	ENSP00000417241.2:p.His1672GlnfsTer4
ENST00000470026.6:c.5019del	ENSP00000419274.2:p.His1673GlnfsTer4
ENST00000473961.6:c.4893del	ENSP00000420201.2:p.His1631GlnfsTer4
ENST00000476777.6:c.5013del	ENSP00000417554.2:p.His1671GlnfsTer4
ENST00000477152.6:c.4941del	ENSP00000419988.2:p.His1647GlnfsTer4
ENST00000478531.6:c.1707del	ENSP00000420412.2:p.His569GlnfsTer4
ENST00000489037.2:c.4941del	ENSP00000420781.2:p.His1647GlnfsTer4
ENST00000493919.6:c.1569del	ENSP00000418819.2:p.His523GlnfsTer4
ENST00000494123.6:c.5019del	ENSP00000419103.2:p.His1673GlnfsTer4
ENST00000497488.2:c.4131del	ENSP00000418986.2:p.His1377GlnfsTer4
ENST00000618469.2:c.5019del	ENSP00000478114.2:p.His1673GlnfsTer4
ENST00000634433.2:c.4896del	ENSP00000489431.2:p.His1632GlnfsTer4
ENST00000644379.2:c.5085del	ENSP00000496570.2:p.His1695GlnfsTer4
ENST00000644555.2:c.1569del	ENSP00000494614.2:p.His523GlnfsTer4
ENST00000652672.2:c.4878del	ENSP00000498906.2:p.His1626GlnfsTer4
ENST00000484087.6:c.1581del	ENSP00000419481.2:p.His527GlnfsTer4
ENST00000357654.9:c.5019del MANE Select	ENSP00000350283.3:p.His1673GlnfsTer4
ENST00000471181.7:c.5082del	ENSP00000418960.2:p.His1694GlnfsTer4
ENST00000644379.1:c.1406del
ENST00000352993.7:c.1593del	ENSP00000312236.5:p.His531GlnfsTer4
ENST00000357654.7:c.5019del	ENSP00000350283.3:p.His1673GlnfsTer4
ENST00000461221.5:c.*4802del	ENSP00000418548.1:n.*4802del
ENST00000468300.5:c.1707del	ENSP00000417148.1:p.His569GlnfsTer4
ENST00000471181.6:c.5082del	ENSP00000418960.2:p.His1694GlnfsTer4
ENST00000472490.1:n.172del
ENST00000478531.5:c.1707del	ENSP00000420412.1:p.His569GlnfsTer4
ENST00000484087.5:c.1332del	ENSP00000419481.1:p.His444GlnfsTer4
ENST00000491747.6:c.1707del	ENSP00000420705.2:p.His569GlnfsTer4
ENST00000493795.5:c.4878del	ENSP00000418775.1:p.His1626GlnfsTer4
ENST00000493919.5:c.1569del	ENSP00000418819.1:p.His523GlnfsTer4
ENST00000586385.5:c.5-3712del	ENSP00000465818.1:n.5-3712del
ENST00000591534.5:c.492del	ENSP00000467329.1:p.His164GlnfsTer4
ENST00000591849.5:c.-98-17473del	ENSP00000465347.1:n.-98-17473del
NM_007294.3:c.5019del , LRG_292t1:c.5019del	NP_009225.1:p.His1673GlnfsTer4
NM_007297.3:c.4878del	NP_009228.2:p.His1626GlnfsTer4
NM_007298.3:c.1707del	NP_009229.2:p.His569GlnfsTer4
NM_007299.3:c.1707del	NP_009230.2:p.His569GlnfsTer4
NM_007300.3:c.5082del	NP_009231.2:p.His1694GlnfsTer4
NR_027676.1:n.5155del
NM_007294.4:c.5019del MANE Select	NP_009225.1:p.His1673GlnfsTer4
NM_007297.4:c.4878del	NP_009228.2:p.His1626GlnfsTer4
NM_007299.4:c.1707del	NP_009230.2:p.His569GlnfsTer4
NM_007300.4:c.5082del	NP_009231.2:p.His1694GlnfsTer4
NR_027676.2:n.5196del