Canonical Allele Identifier: CA002851

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 37592
• ClinVar RCV Id: RCV000031173
• dbSNP Id: rs397507231
• MyVariant Identifiers: chr17:g.41228562dupT (hg19) ; chr17:g.41228561_41228562insT (hg19) ; chr17:g.43076545dupT (hg38) ; chr17:g.43076544_43076545insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076546dup , CM000679.2:g.43076546dup	GRCh38
NC_000017.10:g.41228563dup , CM000679.1:g.41228563dup	GRCh37
NC_000017.9:g.38482089dup	NCBI36
NG_005905.2:g.141439dup , LRG_292:g.141439dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4424dup	ENSP00000417241.2:p.Phe1476ValfsTer2
ENST00000470026.6:c.4427dup	ENSP00000419274.2:p.Phe1477ValfsTer2
ENST00000473961.6:c.4301dup	ENSP00000420201.2:p.Phe1435ValfsTer2
ENST00000476777.6:c.4421dup	ENSP00000417554.2:p.Phe1475ValfsTer2
ENST00000477152.6:c.4349dup	ENSP00000419988.2:p.Phe1451ValfsTer2
ENST00000478531.6:c.1115dup	ENSP00000420412.2:p.Phe373ValfsTer2
ENST00000489037.2:c.4349dup	ENSP00000420781.2:p.Phe1451ValfsTer2
ENST00000493919.6:c.977dup	ENSP00000418819.2:p.Phe327ValfsTer2
ENST00000494123.6:c.4427dup	ENSP00000419103.2:p.Phe1477ValfsTer2
ENST00000497488.2:c.3539dup	ENSP00000418986.2:p.Phe1181ValfsTer2
ENST00000618469.2:c.4427dup	ENSP00000478114.2:p.Phe1477ValfsTer2
ENST00000634433.2:c.4304dup	ENSP00000489431.2:p.Phe1436ValfsTer2
ENST00000644379.2:c.4493dup	ENSP00000496570.2:p.Phe1499ValfsTer2
ENST00000644555.2:c.977dup	ENSP00000494614.2:p.Phe327ValfsTer2
ENST00000652672.2:c.4286dup	ENSP00000498906.2:p.Phe1430ValfsTer2
ENST00000484087.6:c.989dup	ENSP00000419481.2:p.Phe331ValfsTer2
ENST00000700182.1:c.1034dup	ENSP00000514849.1:p.Phe346ValfsTer2
ENST00000357654.9:c.4427dup MANE Select	ENSP00000350283.3:p.Phe1477ValfsTer2
ENST00000471181.7:c.4490dup	ENSP00000418960.2:p.Phe1498ValfsTer2
ENST00000644379.1:c.814dup
ENST00000352993.7:c.1001dup	ENSP00000312236.5:p.Phe335ValfsTer2
ENST00000357654.7:c.4427dup	ENSP00000350283.3:p.Phe1477ValfsTer2
ENST00000461221.5:c.*4210dup	ENSP00000418548.1:n.*4210dup
ENST00000461574.1:c.718dup
ENST00000468300.5:c.1115dup	ENSP00000417148.1:p.Phe373ValfsTer2
ENST00000471181.6:c.4490dup	ENSP00000418960.2:p.Phe1498ValfsTer2
ENST00000478531.5:c.1115dup	ENSP00000420412.1:p.Phe373ValfsTer2
ENST00000484087.5:c.740dup	ENSP00000419481.1:p.Phe248ValfsTer2
ENST00000487825.5:c.743dup	ENSP00000418212.1:p.Phe249ValfsTer2
ENST00000491747.6:c.1115dup	ENSP00000420705.2:p.Phe373ValfsTer2
ENST00000493795.5:c.4286dup	ENSP00000418775.1:p.Phe1430ValfsTer2
ENST00000493919.5:c.977dup	ENSP00000418819.1:p.Phe327ValfsTer2
ENST00000586385.5:c.5-12594dup	ENSP00000465818.1:n.5-12594dup
ENST00000591534.5:c.-43-2024dup	ENSP00000467329.1:n.-43-2024dup
ENST00000591849.5:c.-98-26355dup	ENSP00000465347.1:n.-98-26355dup
ENST00000621897.1:n.318dup
NM_007294.3:c.4427dup , LRG_292t1:c.4427dup	NP_009225.1:p.Phe1477ValfsTer2
NM_007297.3:c.4286dup	NP_009228.2:p.Phe1430ValfsTer2
NM_007298.3:c.1115dup	NP_009229.2:p.Phe373ValfsTer2
NM_007299.3:c.1115dup	NP_009230.2:p.Phe373ValfsTer2
NM_007300.3:c.4490dup	NP_009231.2:p.Phe1498ValfsTer2
NR_027676.1:n.4563dup
NM_007294.4:c.4427dup MANE Select	NP_009225.1:p.Phe1477ValfsTer2
NM_007297.4:c.4286dup	NP_009228.2:p.Phe1430ValfsTer2
NM_007299.4:c.1115dup	NP_009230.2:p.Phe373ValfsTer2
NM_007300.4:c.4490dup	NP_009231.2:p.Phe1498ValfsTer2
NR_027676.2:n.4604dup