Canonical Allele Identifier: CA003666

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55599
• ClinVar RCV Id: RCV000577385 ; RCV000661177
• dbSNP Id: rs273902775
• MyVariant Identifiers: chr17:g.41197781_41197790del (hg19) ; chr17:g.43045764_43045773del (hg38)
• PubMed: PMID:17100994

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045765_43045774del , CM000679.2:g.43045765_43045774del	GRCh38
NC_000017.10:g.41197782_41197791del , CM000679.1:g.41197782_41197791del	GRCh37
NC_000017.9:g.38451308_38451317del	NCBI36
NG_005905.2:g.172211_172220del , LRG_292:g.172211_172220del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5494_5503del	ENSP00000417241.2:p.Val1832SerfsTer7
ENST00000470026.6:c.5497_5506del	ENSP00000419274.2:p.Val1833SerfsTer7
ENST00000473961.6:c.5371_5380del	ENSP00000420201.2:p.Val1791SerfsTer7
ENST00000476777.6:c.5491_5500del	ENSP00000417554.2:p.Val1831SerfsTer7
ENST00000477152.6:c.5419_5428del	ENSP00000419988.2:p.Val1807SerfsTer7
ENST00000478531.6:c.2185_2194del	ENSP00000420412.2:p.Val729SerfsTer7
ENST00000489037.2:c.5419_5428del	ENSP00000420781.2:p.Val1807SerfsTer7
ENST00000493919.6:c.2047_2056del	ENSP00000418819.2:p.Val683SerfsTer7
ENST00000494123.6:c.5497_5506del	ENSP00000419103.2:p.Val1833SerfsTer7
ENST00000497488.2:c.4609_4618del	ENSP00000418986.2:p.Val1537SerfsTer7
ENST00000618469.2:c.5497_5506del	ENSP00000478114.2:p.Val1833SerfsTer7
ENST00000634433.2:c.5374_5383del	ENSP00000489431.2:p.Val1792SerfsTer7
ENST00000644379.2:c.5563_5572del	ENSP00000496570.2:p.Val1855SerfsTer7
ENST00000644555.2:c.2047_2056del	ENSP00000494614.2:p.Val683SerfsTer7
ENST00000652672.2:c.5356_5365del	ENSP00000498906.2:p.Val1786SerfsTer7
ENST00000484087.6:c.2059_2068del	ENSP00000419481.2:p.Val687SerfsTer7
ENST00000700081.1:n.1380_1389del
ENST00000700082.1:n.861_870del
ENST00000357654.9:c.5497_5506del MANE Select	ENSP00000350283.3:p.Val1833SerfsTer7
ENST00000471181.7:c.5560_5569del	ENSP00000418960.2:p.Val1854SerfsTer7
ENST00000644379.1:c.1884_1893del
ENST00000352993.7:c.2071_2080del	ENSP00000312236.5:p.Val691SerfsTer7
ENST00000357654.7:c.5497_5506del	ENSP00000350283.3:p.Val1833SerfsTer7
ENST00000461221.5:c.*5280_*5289del	ENSP00000418548.1:n.*5280_*5289del
ENST00000468300.5:c.*11_*20del	ENSP00000417148.1:n.*11_*20del
ENST00000471181.6:c.5560_5569del	ENSP00000418960.2:p.Val1854SerfsTer7
ENST00000491747.6:c.2185_2194del	ENSP00000420705.2:p.Val729SerfsTer7
ENST00000493795.5:c.5356_5365del	ENSP00000418775.1:p.Val1786SerfsTer7
ENST00000586385.5:c.427_436del	ENSP00000465818.1:p.Val143SerfsTer7
ENST00000591534.5:c.970_979del	ENSP00000467329.1:p.Val324SerfsTer7
ENST00000591849.5:c.196_205del	ENSP00000465347.1:p.Val66SerfsTer7
NM_007294.3:c.5497_5506del , LRG_292t1:c.5497_5506del	NP_009225.1:p.Val1833SerfsTer7
NM_007297.3:c.5356_5365del	NP_009228.2:p.Val1786SerfsTer7
NM_007298.3:c.2185_2194del	NP_009229.2:p.Val729SerfsTer7
NM_007299.3:c.*11_*20del	NP_009230.2:n.*11_*20del
NM_007300.3:c.5560_5569del	NP_009231.2:p.Val1854SerfsTer7
NR_027676.1:n.5633_5642del
NM_007294.4:c.5497_5506del MANE Select	NP_009225.1:p.Val1833SerfsTer7
NM_007297.4:c.5356_5365del	NP_009228.2:p.Val1786SerfsTer7
NM_007299.4:c.*11_*20del	NP_009230.2:n.*11_*20del
NM_007300.4:c.5560_5569del	NP_009231.2:p.Val1854SerfsTer7
NR_027676.2:n.5674_5683del