Canonical Allele Identifier: CA2739265613

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2820227
• ClinVar RCV Id: RCV003645640

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047677_43047683del , CM000679.2:g.43047677_43047683del	GRCh38
NC_000017.10:g.41199694_41199700del , CM000679.1:g.41199694_41199700del	GRCh37
NC_000017.9:g.38453220_38453226del	NCBI36
NG_005905.2:g.170301_170307del , LRG_292:g.170301_170307del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5424_5430del	ENSP00000417241.2:p.Val1809GlnfsTer22
ENST00000470026.6:c.5427_5433del	ENSP00000419274.2:p.Val1810GlnfsTer22
ENST00000473961.6:c.5301_5307del	ENSP00000420201.2:p.Val1768GlnfsTer22
ENST00000476777.6:c.5421_5427del	ENSP00000417554.2:p.Val1808GlnfsTer22
ENST00000477152.6:c.5349_5355del	ENSP00000419988.2:p.Val1784GlnfsTer22
ENST00000478531.6:c.2115_2121del	ENSP00000420412.2:p.Val706GlnfsTer22
ENST00000489037.2:c.5349_5355del	ENSP00000420781.2:p.Val1784GlnfsTer22
ENST00000493919.6:c.1977_1983del	ENSP00000418819.2:p.Val660GlnfsTer22
ENST00000494123.6:c.5427_5433del	ENSP00000419103.2:p.Val1810GlnfsTer22
ENST00000497488.2:c.4539_4545del	ENSP00000418986.2:p.Val1514GlnfsTer22
ENST00000618469.2:c.5427_5433del	ENSP00000478114.2:p.Val1810GlnfsTer22
ENST00000634433.2:c.5304_5310del	ENSP00000489431.2:p.Val1769GlnfsTer22
ENST00000644379.2:c.5493_5499del	ENSP00000496570.2:p.Val1832GlnfsTer22
ENST00000644555.2:c.1977_1983del	ENSP00000494614.2:p.Val660GlnfsTer22
ENST00000652672.2:c.5286_5292del	ENSP00000498906.2:p.Val1763GlnfsTer22
ENST00000484087.6:c.1989_1995del	ENSP00000419481.2:p.Val664GlnfsTer22
ENST00000700081.1:n.1310_1316del
ENST00000700082.1:n.791_797del
ENST00000357654.9:c.5427_5433del MANE Select	ENSP00000350283.3:p.Val1810GlnfsTer22
ENST00000471181.7:c.5490_5496del	ENSP00000418960.2:p.Val1831GlnfsTer22
ENST00000644379.1:c.1814_1820del
ENST00000352993.7:c.2001_2007del	ENSP00000312236.5:p.Val668GlnfsTer22
ENST00000357654.7:c.5427_5433del	ENSP00000350283.3:p.Val1810GlnfsTer22
ENST00000461221.5:c.*5210_*5216del	ENSP00000418548.1:n.*5210_*5216del
ENST00000468300.5:c.2041_2047del	ENSP00000417148.1:p.Cys681ProfsTer?
ENST00000471181.6:c.5490_5496del	ENSP00000418960.2:p.Val1831GlnfsTer22
ENST00000491747.6:c.2115_2121del	ENSP00000420705.2:p.Val706GlnfsTer22
ENST00000493795.5:c.5286_5292del	ENSP00000418775.1:p.Val1763GlnfsTer22
ENST00000586385.5:c.357_363del	ENSP00000465818.1:p.Val120GlnfsTer22
ENST00000591534.5:c.900_906del	ENSP00000467329.1:p.Val301GlnfsTer22
ENST00000591849.5:c.126_132del	ENSP00000465347.1:p.Val43GlnfsTer22
NM_007294.3:c.5427_5433del , LRG_292t1:c.5427_5433del	NP_009225.1:p.Val1810GlnfsTer22
NM_007297.3:c.5286_5292del	NP_009228.2:p.Val1763GlnfsTer22
NM_007298.3:c.2115_2121del	NP_009229.2:p.Val706GlnfsTer22
NM_007299.3:c.2041_2047del	NP_009230.2:p.Cys681ProfsTer?
NM_007300.3:c.5490_5496del	NP_009231.2:p.Val1831GlnfsTer22
NR_027676.1:n.5563_5569del
NM_007294.4:c.5427_5433del MANE Select	NP_009225.1:p.Val1810GlnfsTer22
NM_007297.4:c.5286_5292del	NP_009228.2:p.Val1763GlnfsTer22
NM_007299.4:c.2041_2047del	NP_009230.2:p.Cys681ProfsTer?
NM_007300.4:c.5490_5496del	NP_009231.2:p.Val1831GlnfsTer22
NR_027676.2:n.5604_5610del