Canonical Allele Identifier: CA327926

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55159
• ClinVar RCV Id: RCV002513660
• dbSNP Id: rs397509158
• MyVariant Identifiers: chr17:g.41234512dupC (hg19) ; chr17:g.41234511_41234512insC (hg19) ; chr17:g.43082495dupC (hg38) ; chr17:g.43082494_43082495insC (hg38)
• PubMed: PMID:21702907

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082497dup , CM000679.2:g.43082497dup	GRCh38
NC_000017.10:g.41234514dup , CM000679.1:g.41234514dup	GRCh37
NC_000017.9:g.38488040dup	NCBI36
NG_005905.2:g.135489dup , LRG_292:g.135489dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4266dup	ENSP00000417241.2:p.Ser1423GlufsTer5
ENST00000470026.6:c.4266dup	ENSP00000419274.2:p.Ser1423GlufsTer5
ENST00000473961.6:c.4140dup	ENSP00000420201.2:p.Ser1381GlufsTer5
ENST00000476777.6:c.4260dup	ENSP00000417554.2:p.Ser1421GlufsTer5
ENST00000477152.6:c.4188dup	ENSP00000419988.2:p.Ser1397GlufsTer5
ENST00000478531.6:c.954dup	ENSP00000420412.2:p.Ser319GlufsTer5
ENST00000489037.2:c.4188dup	ENSP00000420781.2:p.Ser1397GlufsTer5
ENST00000493919.6:c.816dup	ENSP00000418819.2:p.Ser273GlufsTer5
ENST00000494123.6:c.4266dup	ENSP00000419103.2:p.Ser1423GlufsTer5
ENST00000497488.2:c.3378dup	ENSP00000418986.2:p.Ser1127GlufsTer5
ENST00000618469.2:c.4266dup	ENSP00000478114.2:p.Ser1423GlufsTer5
ENST00000634433.2:c.4143dup	ENSP00000489431.2:p.Ser1382GlufsTer5
ENST00000644379.2:c.4266dup	ENSP00000496570.2:p.Ser1423GlufsTer5
ENST00000644555.2:c.816dup	ENSP00000494614.2:p.Ser273GlufsTer5
ENST00000652672.2:c.4125dup	ENSP00000498906.2:p.Ser1376GlufsTer5
ENST00000484087.6:c.831dup	ENSP00000419481.2:p.Ser278GlufsTer5
ENST00000700182.1:c.876dup	ENSP00000514849.1:p.Ser293GlufsTer5
ENST00000357654.9:c.4266dup MANE Select	ENSP00000350283.3:p.Ser1423GlufsTer5
ENST00000471181.7:c.4266dup	ENSP00000418960.2:p.Ser1423GlufsTer5
ENST00000644379.1:c.587dup
ENST00000352993.7:c.840dup	ENSP00000312236.5:p.Ser281GlufsTer5
ENST00000357654.7:c.4266dup	ENSP00000350283.3:p.Ser1423GlufsTer5
ENST00000461221.5:c.*4049dup	ENSP00000418548.1:n.*4049dup
ENST00000461574.1:c.560dup
ENST00000468300.5:c.957dup	ENSP00000417148.1:p.Ser320GlufsTer5
ENST00000471181.6:c.4266dup	ENSP00000418960.2:p.Ser1423GlufsTer5
ENST00000478531.5:c.954dup	ENSP00000420412.1:p.Ser319GlufsTer5
ENST00000484087.5:c.579dup	ENSP00000419481.1:p.Ser194GlufsTer5
ENST00000487825.5:c.582dup	ENSP00000418212.1:p.Ser195GlufsTer5
ENST00000491747.6:c.957dup	ENSP00000420705.2:p.Ser320GlufsTer5
ENST00000493795.5:c.4125dup	ENSP00000418775.1:p.Ser1376GlufsTer5
ENST00000493919.5:c.816dup	ENSP00000418819.1:p.Ser273GlufsTer5
ENST00000586385.5:c.5-18544dup	ENSP00000465818.1:n.5-18544dup
ENST00000591534.5:c.-43-7974dup	ENSP00000467329.1:n.-43-7974dup
ENST00000591849.5:c.-98-32305dup	ENSP00000465347.1:n.-98-32305dup
ENST00000621897.1:n.160dup
NM_007294.3:c.4266dup , LRG_292t1:c.4266dup	NP_009225.1:p.Ser1423GlufsTer5
NM_007297.3:c.4125dup	NP_009228.2:p.Ser1376GlufsTer5
NM_007298.3:c.957dup	NP_009229.2:p.Ser320GlufsTer5
NM_007299.3:c.957dup	NP_009230.2:p.Ser320GlufsTer5
NM_007300.3:c.4266dup	NP_009231.2:p.Ser1423GlufsTer5
NR_027676.1:n.4402dup
NM_007294.4:c.4266dup MANE Select	NP_009225.1:p.Ser1423GlufsTer5
NM_007297.4:c.4125dup	NP_009228.2:p.Ser1376GlufsTer5
NM_007299.4:c.957dup	NP_009230.2:p.Ser320GlufsTer5
NM_007300.4:c.4266dup	NP_009231.2:p.Ser1423GlufsTer5
NR_027676.2:n.4443dup