Canonical Allele Identifier: CA002730

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 142996
• ClinVar RCV Id: RCV000132513 ; RCV000241140
• dbSNP Id: rs587782879
• MyVariant Identifiers: chr17:g.41234528del (hg19) ; chr17:g.43082511del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082511del , CM000679.2:g.43082511del	GRCh38
NC_000017.10:g.41234528del , CM000679.1:g.41234528del	GRCh37
NC_000017.9:g.38488054del	NCBI36
NG_005905.2:g.135473del , LRG_292:g.135473del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4250del	ENSP00000417241.2:p.Val1417GlyfsTer2
ENST00000470026.6:c.4250del	ENSP00000419274.2:p.Val1417GlyfsTer2
ENST00000473961.6:c.4124del	ENSP00000420201.2:p.Val1375GlyfsTer2
ENST00000476777.6:c.4244del	ENSP00000417554.2:p.Val1415GlyfsTer2
ENST00000477152.6:c.4172del	ENSP00000419988.2:p.Val1391GlyfsTer2
ENST00000478531.6:c.938del	ENSP00000420412.2:p.Val313GlyfsTer2
ENST00000489037.2:c.4172del	ENSP00000420781.2:p.Val1391GlyfsTer2
ENST00000493919.6:c.800del	ENSP00000418819.2:p.Val267GlyfsTer2
ENST00000494123.6:c.4250del	ENSP00000419103.2:p.Val1417GlyfsTer2
ENST00000497488.2:c.3362del	ENSP00000418986.2:p.Val1121GlyfsTer2
ENST00000618469.2:c.4250del	ENSP00000478114.2:p.Val1417GlyfsTer2
ENST00000634433.2:c.4127del	ENSP00000489431.2:p.Val1376GlyfsTer2
ENST00000644379.2:c.4250del	ENSP00000496570.2:p.Val1417GlyfsTer2
ENST00000644555.2:c.800del	ENSP00000494614.2:p.Val267GlyfsTer2
ENST00000652672.2:c.4109del	ENSP00000498906.2:p.Val1370GlyfsTer2
ENST00000484087.6:c.815del	ENSP00000419481.2:p.Val272GlyfsTer2
ENST00000700182.1:c.860del	ENSP00000514849.1:p.Val287GlyfsTer2
ENST00000357654.9:c.4250del MANE Select	ENSP00000350283.3:p.Val1417GlyfsTer2
ENST00000471181.7:c.4250del	ENSP00000418960.2:p.Val1417GlyfsTer2
ENST00000644379.1:c.571del
ENST00000352993.7:c.824del	ENSP00000312236.5:p.Val275GlyfsTer2
ENST00000357654.7:c.4250del	ENSP00000350283.3:p.Val1417GlyfsTer2
ENST00000461221.5:c.*4033del	ENSP00000418548.1:n.*4033del
ENST00000461574.1:c.544del
ENST00000468300.5:c.941del	ENSP00000417148.1:p.Val314GlyfsTer2
ENST00000471181.6:c.4250del	ENSP00000418960.2:p.Val1417GlyfsTer2
ENST00000478531.5:c.938del	ENSP00000420412.1:p.Val313GlyfsTer2
ENST00000484087.5:c.563del	ENSP00000419481.1:p.Val188GlyfsTer2
ENST00000487825.5:c.566del	ENSP00000418212.1:p.Val189GlyfsTer2
ENST00000491747.6:c.941del	ENSP00000420705.2:p.Val314GlyfsTer2
ENST00000493795.5:c.4109del	ENSP00000418775.1:p.Val1370GlyfsTer2
ENST00000493919.5:c.800del	ENSP00000418819.1:p.Val267GlyfsTer2
ENST00000586385.5:c.5-18560del	ENSP00000465818.1:n.5-18560del
ENST00000591534.5:c.-43-7990del	ENSP00000467329.1:n.-43-7990del
ENST00000591849.5:c.-98-32321del	ENSP00000465347.1:n.-98-32321del
ENST00000621897.1:n.144del
NM_007294.3:c.4250del , LRG_292t1:c.4250del	NP_009225.1:p.Val1417GlyfsTer2
NM_007297.3:c.4109del	NP_009228.2:p.Val1370GlyfsTer2
NM_007298.3:c.941del	NP_009229.2:p.Val314GlyfsTer2
NM_007299.3:c.941del	NP_009230.2:p.Val314GlyfsTer2
NM_007300.3:c.4250del	NP_009231.2:p.Val1417GlyfsTer2
NR_027676.1:n.4386del
NM_007294.4:c.4250del MANE Select	NP_009225.1:p.Val1417GlyfsTer2
NM_007297.4:c.4109del	NP_009228.2:p.Val1370GlyfsTer2
NM_007299.4:c.941del	NP_009230.2:p.Val314GlyfsTer2
NM_007300.4:c.4250del	NP_009231.2:p.Val1417GlyfsTer2
NR_027676.2:n.4427del