Canonical Allele Identifier: CA500146168

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 431187
• ClinVar RCV Id: RCV000496528 ; RCV000661174
• dbSNP Id: rs1135401829
• COSMIC: COSM68967
• MyVariant Identifiers: chr17:g.41215914del (hg19) ; chr17:g.43063897del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063898del , CM000679.2:g.43063898del	GRCh38
NC_000017.10:g.41215915del , CM000679.1:g.41215915del	GRCh37
NC_000017.9:g.38469441del	NCBI36
NG_005905.2:g.154087del , LRG_292:g.154087del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5126del	ENSP00000417241.2:p.Gly1709GlufsTer4
ENST00000470026.6:c.5129del	ENSP00000419274.2:p.Gly1710GlufsTer4
ENST00000473961.6:c.5003del	ENSP00000420201.2:p.Gly1668GlufsTer4
ENST00000476777.6:c.5123del	ENSP00000417554.2:p.Gly1708GlufsTer4
ENST00000477152.6:c.5051del	ENSP00000419988.2:p.Gly1684GlufsTer4
ENST00000478531.6:c.1817del	ENSP00000420412.2:p.Gly606GlufsTer4
ENST00000489037.2:c.5051del	ENSP00000420781.2:p.Gly1684GlufsTer4
ENST00000493919.6:c.1679del	ENSP00000418819.2:p.Gly560GlufsTer4
ENST00000494123.6:c.5129del	ENSP00000419103.2:p.Gly1710GlufsTer4
ENST00000497488.2:c.4241del	ENSP00000418986.2:p.Gly1414GlufsTer4
ENST00000618469.2:c.5129del	ENSP00000478114.2:p.Gly1710GlufsTer4
ENST00000634433.2:c.5006del	ENSP00000489431.2:p.Gly1669GlufsTer4
ENST00000644379.2:c.5195del	ENSP00000496570.2:p.Gly1732GlufsTer4
ENST00000644555.2:c.1679del	ENSP00000494614.2:p.Gly560GlufsTer4
ENST00000652672.2:c.4988del	ENSP00000498906.2:p.Gly1663GlufsTer4
ENST00000484087.6:c.1691del	ENSP00000419481.2:p.Gly564GlufsTer4
ENST00000357654.9:c.5129del MANE Select	ENSP00000350283.3:p.Gly1710GlufsTer4
ENST00000471181.7:c.5192del	ENSP00000418960.2:p.Gly1731GlufsTer4
ENST00000644379.1:c.1516del
ENST00000352993.7:c.1703del	ENSP00000312236.5:p.Gly568GlufsTer4
ENST00000357654.7:c.5129del	ENSP00000350283.3:p.Gly1710GlufsTer4
ENST00000461221.5:c.*4912del	ENSP00000418548.1:n.*4912del
ENST00000468300.5:c.1817del	ENSP00000417148.1:p.Gly606GlufsTer4
ENST00000471181.6:c.5192del	ENSP00000418960.2:p.Gly1731GlufsTer4
ENST00000478531.5:c.1817del	ENSP00000420412.1:p.Gly606GlufsTer4
ENST00000484087.5:c.1442del	ENSP00000419481.1:p.Gly481GlufsTer4
ENST00000491747.6:c.1817del	ENSP00000420705.2:p.Gly606GlufsTer4
ENST00000493795.5:c.4988del	ENSP00000418775.1:p.Gly1663GlufsTer4
ENST00000493919.5:c.1679del	ENSP00000418819.1:p.Gly560GlufsTer4
ENST00000586385.5:c.59del	ENSP00000465818.1:p.Gly20GlufsTer4
ENST00000591534.5:c.602del	ENSP00000467329.1:p.Gly201GlufsTer4
ENST00000591849.5:c.-98-13707del	ENSP00000465347.1:n.-98-13707del
NM_007294.3:c.5129del , LRG_292t1:c.5129del	NP_009225.1:p.Gly1710GlufsTer4
NM_007297.3:c.4988del	NP_009228.2:p.Gly1663GlufsTer4
NM_007298.3:c.1817del	NP_009229.2:p.Gly606GlufsTer4
NM_007299.3:c.1817del	NP_009230.2:p.Gly606GlufsTer4
NM_007300.3:c.5192del	NP_009231.2:p.Gly1731GlufsTer4
NR_027676.1:n.5265del
NM_007294.4:c.5129del MANE Select	NP_009225.1:p.Gly1710GlufsTer4
NM_007297.4:c.4988del	NP_009228.2:p.Gly1663GlufsTer4
NM_007299.4:c.1817del	NP_009230.2:p.Gly606GlufsTer4
NM_007300.4:c.5192del	NP_009231.2:p.Gly1731GlufsTer4
NR_027676.2:n.5306del