Canonical Allele Identifier: CA919844540

Gene: BRCA1

Linked Data

• dbSNP Id: rs1567802468

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094854del , CM000679.2:g.43094854del	GRCh38
NC_000017.10:g.41246871del , CM000679.1:g.41246871del	GRCh37
NC_000017.9:g.38500397del	NCBI36
NG_005905.2:g.123130del , LRG_292:g.123130del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.741del
ENST00000461574.2:c.677del	ENSP00000417241.2:p.Cys226LeufsTer8
ENST00000470026.6:c.677del	ENSP00000419274.2:p.Cys226LeufsTer8
ENST00000473961.6:c.551del	ENSP00000420201.2:p.Cys184LeufsTer8
ENST00000476777.6:c.674del	ENSP00000417554.2:p.Cys225LeufsTer8
ENST00000477152.6:c.599del	ENSP00000419988.2:p.Cys200LeufsTer8
ENST00000478531.6:c.674del	ENSP00000420412.2:p.Cys225LeufsTer8
ENST00000489037.2:c.599del	ENSP00000420781.2:p.Cys200LeufsTer8
ENST00000493919.6:c.536del	ENSP00000418819.2:p.Cys179LeufsTer8
ENST00000494123.6:c.677del	ENSP00000419103.2:p.Cys226LeufsTer8
ENST00000497488.2:c.-212del	ENSP00000418986.2:n.-212del
ENST00000618469.2:c.677del	ENSP00000478114.2:p.Cys226LeufsTer8
ENST00000634433.2:c.554del	ENSP00000489431.2:p.Cys185LeufsTer8
ENST00000644379.2:c.677del	ENSP00000496570.2:p.Cys226LeufsTer8
ENST00000644555.2:c.536del	ENSP00000494614.2:p.Cys179LeufsTer8
ENST00000652672.2:c.536del	ENSP00000498906.2:p.Cys179LeufsTer8
ENST00000484087.6:c.554del	ENSP00000419481.2:p.Cys185LeufsTer8
ENST00000700182.1:c.596del	ENSP00000514849.1:p.Cys199LeufsTer8
ENST00000700183.1:c.*685del	ENSP00000514850.1:n.*685del
ENST00000357654.9:c.677del MANE Select	ENSP00000350283.3:p.Cys226LeufsTer8
ENST00000471181.7:c.677del	ENSP00000418960.2:p.Cys226LeufsTer8
ENST00000642945.1:c.*551del	ENSP00000495897.1:n.*551del
ENST00000652672.1:c.536del	ENSP00000498906.1:p.Cys179LeufsTer8
ENST00000352993.7:c.670+992del	ENSP00000312236.5:n.670+992del
ENST00000354071.7:c.677del	ENSP00000326002.7:p.Cys226LeufsTer8
ENST00000357654.7:c.677del	ENSP00000350283.3:p.Cys226LeufsTer8
ENST00000412061.3:c.28del
ENST00000461221.5:c.*460del	ENSP00000418548.1:n.*460del
ENST00000468300.5:c.677del	ENSP00000417148.1:p.Cys226LeufsTer8
ENST00000470026.5:c.677del	ENSP00000419274.1:p.Cys226LeufsTer8
ENST00000471181.6:c.677del	ENSP00000418960.2:p.Cys226LeufsTer8
ENST00000473961.5:c.274del
ENST00000477152.5:c.599del	ENSP00000419988.1:p.Cys200LeufsTer8
ENST00000478531.5:c.674del	ENSP00000420412.1:p.Cys225LeufsTer8
ENST00000484087.5:c.299del	ENSP00000419481.1:p.Cys100LeufsTer8
ENST00000487825.5:c.302del	ENSP00000418212.1:p.Cys101LeufsTer8
ENST00000491747.6:c.677del	ENSP00000420705.2:p.Cys226LeufsTer8
ENST00000492859.5:c.*613del	ENSP00000420253.1:n.*613del
ENST00000493795.5:c.536del	ENSP00000418775.1:p.Cys179LeufsTer8
ENST00000493919.5:c.536del	ENSP00000418819.1:p.Cys179LeufsTer8
ENST00000494123.5:c.677del	ENSP00000419103.1:p.Cys226LeufsTer8
ENST00000497488.1:c.-212del	ENSP00000418986.1:n.-212del
ENST00000586385.5:c.4+30328del	ENSP00000465818.1:n.4+30328del
ENST00000591534.5:c.-43-20333del	ENSP00000467329.1:n.-43-20333del
ENST00000591849.5:c.-99+30417del	ENSP00000465347.1:n.-99+30417del
ENST00000634433.1:c.554del	ENSP00000489431.1:p.Cys185LeufsTer8
NM_007294.3:c.677del , LRG_292t1:c.677del	NP_009225.1:p.Cys226LeufsTer8
NM_007297.3:c.536del	NP_009228.2:p.Cys179LeufsTer8
NM_007298.3:c.677del	NP_009229.2:p.Cys226LeufsTer8
NM_007299.3:c.677del	NP_009230.2:p.Cys226LeufsTer8
NM_007300.3:c.677del	NP_009231.2:p.Cys226LeufsTer8
NR_027676.1:n.813del
NM_007294.4:c.677del MANE Select	NP_009225.1:p.Cys226LeufsTer8
NM_007297.4:c.536del	NP_009228.2:p.Cys179LeufsTer8
NM_007299.4:c.677del	NP_009230.2:p.Cys226LeufsTer8
NM_007300.4:c.677del	NP_009231.2:p.Cys226LeufsTer8
NR_027676.2:n.854del