Canonical Allele Identifier: CA002727

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 37578
• ClinVar RCV Id: RCV000031159 ; RCV000217565 ; RCV000496518 ; RCV000482127 ; RCV001271022 ; RCV001354027
• dbSNP Id: rs80357981
• ExAC: 17:41234534 TC / T
• gnomAD v2: 17-41234534-TC-T
• gnomAD v3: 17-43082517-TC-T
• gnomAD v4: 17-43082517-TC-T
• MyVariant Identifiers: chr17:g.41234535del (hg19) ; chr17:g.43082518del (hg38)
• PubMed: PMID:21203900 ; PMID:21281505

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082518del , CM000679.2:g.43082518del	GRCh38
NC_000017.10:g.41234535del , CM000679.1:g.41234535del	GRCh37
NC_000017.9:g.38488061del	NCBI36
NG_005905.2:g.135466del , LRG_292:g.135466del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4243del	ENSP00000417241.2:p.Glu1415LysfsTer4
ENST00000470026.6:c.4243del	ENSP00000419274.2:p.Glu1415LysfsTer4
ENST00000473961.6:c.4117del	ENSP00000420201.2:p.Glu1373LysfsTer4
ENST00000476777.6:c.4237del	ENSP00000417554.2:p.Glu1413LysfsTer4
ENST00000477152.6:c.4165del	ENSP00000419988.2:p.Glu1389LysfsTer4
ENST00000478531.6:c.931del	ENSP00000420412.2:p.Glu311LysfsTer4
ENST00000489037.2:c.4165del	ENSP00000420781.2:p.Glu1389LysfsTer4
ENST00000493919.6:c.793del	ENSP00000418819.2:p.Glu265LysfsTer4
ENST00000494123.6:c.4243del	ENSP00000419103.2:p.Glu1415LysfsTer4
ENST00000497488.2:c.3355del	ENSP00000418986.2:p.Glu1119LysfsTer4
ENST00000618469.2:c.4243del	ENSP00000478114.2:p.Glu1415LysfsTer4
ENST00000634433.2:c.4120del	ENSP00000489431.2:p.Glu1374LysfsTer4
ENST00000644379.2:c.4243del	ENSP00000496570.2:p.Glu1415LysfsTer4
ENST00000644555.2:c.793del	ENSP00000494614.2:p.Glu265LysfsTer4
ENST00000652672.2:c.4102del	ENSP00000498906.2:p.Glu1368LysfsTer4
ENST00000484087.6:c.808del	ENSP00000419481.2:p.Glu270LysfsTer4
ENST00000700182.1:c.853del	ENSP00000514849.1:p.Glu285LysfsTer4
ENST00000357654.9:c.4243del MANE Select	ENSP00000350283.3:p.Glu1415LysfsTer4
ENST00000471181.7:c.4243del	ENSP00000418960.2:p.Glu1415LysfsTer4
ENST00000644379.1:c.564del
ENST00000352993.7:c.817del	ENSP00000312236.5:p.Glu273LysfsTer4
ENST00000357654.7:c.4243del	ENSP00000350283.3:p.Glu1415LysfsTer4
ENST00000461221.5:c.*4026del	ENSP00000418548.1:n.*4026del
ENST00000461574.1:c.537del
ENST00000468300.5:c.934del	ENSP00000417148.1:p.Glu312LysfsTer4
ENST00000471181.6:c.4243del	ENSP00000418960.2:p.Glu1415LysfsTer4
ENST00000478531.5:c.931del	ENSP00000420412.1:p.Glu311LysfsTer4
ENST00000484087.5:c.556del	ENSP00000419481.1:p.Glu186LysfsTer4
ENST00000487825.5:c.559del	ENSP00000418212.1:p.Glu187LysfsTer4
ENST00000491747.6:c.934del	ENSP00000420705.2:p.Glu312LysfsTer4
ENST00000493795.5:c.4102del	ENSP00000418775.1:p.Glu1368LysfsTer4
ENST00000493919.5:c.793del	ENSP00000418819.1:p.Glu265LysfsTer4
ENST00000586385.5:c.5-18567del	ENSP00000465818.1:n.5-18567del
ENST00000591534.5:c.-43-7997del	ENSP00000467329.1:n.-43-7997del
ENST00000591849.5:c.-98-32328del	ENSP00000465347.1:n.-98-32328del
ENST00000621897.1:n.137del
NM_007294.3:c.4243del , LRG_292t1:c.4243del	NP_009225.1:p.Glu1415LysfsTer4
NM_007297.3:c.4102del	NP_009228.2:p.Glu1368LysfsTer4
NM_007298.3:c.934del	NP_009229.2:p.Glu312LysfsTer4
NM_007299.3:c.934del	NP_009230.2:p.Glu312LysfsTer4
NM_007300.3:c.4243del	NP_009231.2:p.Glu1415LysfsTer4
NR_027676.1:n.4379del
NM_007294.4:c.4243del MANE Select	NP_009225.1:p.Glu1415LysfsTer4
NM_007297.4:c.4102del	NP_009228.2:p.Glu1368LysfsTer4
NM_007299.4:c.934del	NP_009230.2:p.Glu312LysfsTer4
NM_007300.4:c.4243del	NP_009231.2:p.Glu1415LysfsTer4
NR_027676.2:n.4420del