Canonical Allele Identifier: CA327921

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55149
• ClinVar RCV Id: RCV001187288
• dbSNP Id: rs397509154
• MyVariant Identifiers: chr17:g.41234538dupG (hg19) ; chr17:g.41234537_41234538insG (hg19) ; chr17:g.43082521dupG (hg38) ; chr17:g.43082520_43082521insG (hg38)
• PubMed: PMID:22034289

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082521dup , CM000679.2:g.43082521dup	GRCh38
NC_000017.10:g.41234538dup , CM000679.1:g.41234538dup	GRCh37
NC_000017.9:g.38488064dup	NCBI36
NG_005905.2:g.135463dup , LRG_292:g.135463dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4240dup	ENSP00000417241.2:p.Leu1414ProfsTer14
ENST00000470026.6:c.4240dup	ENSP00000419274.2:p.Leu1414ProfsTer14
ENST00000473961.6:c.4114dup	ENSP00000420201.2:p.Leu1372ProfsTer14
ENST00000476777.6:c.4234dup	ENSP00000417554.2:p.Leu1412ProfsTer14
ENST00000477152.6:c.4162dup	ENSP00000419988.2:p.Leu1388ProfsTer14
ENST00000478531.6:c.928dup	ENSP00000420412.2:p.Leu310ProfsTer14
ENST00000489037.2:c.4162dup	ENSP00000420781.2:p.Leu1388ProfsTer14
ENST00000493919.6:c.790dup	ENSP00000418819.2:p.Leu264ProfsTer14
ENST00000494123.6:c.4240dup	ENSP00000419103.2:p.Leu1414ProfsTer14
ENST00000497488.2:c.3352dup	ENSP00000418986.2:p.Leu1118ProfsTer14
ENST00000618469.2:c.4240dup	ENSP00000478114.2:p.Leu1414ProfsTer14
ENST00000634433.2:c.4117dup	ENSP00000489431.2:p.Leu1373ProfsTer14
ENST00000644379.2:c.4240dup	ENSP00000496570.2:p.Leu1414ProfsTer14
ENST00000644555.2:c.790dup	ENSP00000494614.2:p.Leu264ProfsTer14
ENST00000652672.2:c.4099dup	ENSP00000498906.2:p.Leu1367ProfsTer14
ENST00000484087.6:c.805dup	ENSP00000419481.2:p.Leu269ProfsTer14
ENST00000700182.1:c.850dup	ENSP00000514849.1:p.Leu284ProfsTer14
ENST00000357654.9:c.4240dup MANE Select	ENSP00000350283.3:p.Leu1414ProfsTer14
ENST00000471181.7:c.4240dup	ENSP00000418960.2:p.Leu1414ProfsTer14
ENST00000644379.1:c.561dup
ENST00000352993.7:c.814dup	ENSP00000312236.5:p.Leu272ProfsTer14
ENST00000357654.7:c.4240dup	ENSP00000350283.3:p.Leu1414ProfsTer14
ENST00000461221.5:c.*4023dup	ENSP00000418548.1:n.*4023dup
ENST00000461574.1:c.534dup
ENST00000468300.5:c.931dup	ENSP00000417148.1:p.Leu311ProfsTer14
ENST00000471181.6:c.4240dup	ENSP00000418960.2:p.Leu1414ProfsTer14
ENST00000478531.5:c.928dup	ENSP00000420412.1:p.Leu310ProfsTer14
ENST00000484087.5:c.553dup	ENSP00000419481.1:p.Leu185ProfsTer14
ENST00000487825.5:c.556dup	ENSP00000418212.1:p.Leu186ProfsTer14
ENST00000491747.6:c.931dup	ENSP00000420705.2:p.Leu311ProfsTer14
ENST00000493795.5:c.4099dup	ENSP00000418775.1:p.Leu1367ProfsTer14
ENST00000493919.5:c.790dup	ENSP00000418819.1:p.Leu264ProfsTer14
ENST00000586385.5:c.5-18570dup	ENSP00000465818.1:n.5-18570dup
ENST00000591534.5:c.-43-8000dup	ENSP00000467329.1:n.-43-8000dup
ENST00000591849.5:c.-98-32331dup	ENSP00000465347.1:n.-98-32331dup
ENST00000621897.1:n.134dup
NM_007294.3:c.4240dup , LRG_292t1:c.4240dup	NP_009225.1:p.Leu1414ProfsTer14
NM_007297.3:c.4099dup	NP_009228.2:p.Leu1367ProfsTer14
NM_007298.3:c.931dup	NP_009229.2:p.Leu311ProfsTer14
NM_007299.3:c.931dup	NP_009230.2:p.Leu311ProfsTer14
NM_007300.3:c.4240dup	NP_009231.2:p.Leu1414ProfsTer14
NR_027676.1:n.4376dup
NM_007294.4:c.4240dup MANE Select	NP_009225.1:p.Leu1414ProfsTer14
NM_007297.4:c.4099dup	NP_009228.2:p.Leu1367ProfsTer14
NM_007299.4:c.931dup	NP_009230.2:p.Leu311ProfsTer14
NM_007300.4:c.4240dup	NP_009231.2:p.Leu1414ProfsTer14
NR_027676.2:n.4417dup