Canonical Allele Identifier: CA003713

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55628
• ClinVar RCV Id: RCV000049050 ; RCV000074357 ; RCV000163976 ; RCV000265181
• dbSNP Id: rs80357629
• gnomAD v3: 17-43045711-G-GT
• gnomAD v4: 17-43045711-G-GT
• MyVariant Identifiers: chr17:g.41197729dupT (hg19) ; chr17:g.41197728_41197729insT (hg19) ; chr17:g.43045712dupT (hg38) ; chr17:g.43045711_43045712insT (hg38)
• PubMed: PMID:7894493 ; PMID:9738006 ; PMID:10811118 ; PMID:11739404 ; PMID:12400015 ; PMID:18992264 ; PMID:20104584 ; PMID:24504028 ; PMID:24728189 ; PMID:25186627

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045712dup , CM000679.2:g.43045712dup	GRCh38
NC_000017.10:g.41197729dup , CM000679.1:g.41197729dup	GRCh37
NC_000017.9:g.38451255dup	NCBI36
NG_005905.2:g.172272dup , LRG_292:g.172272dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5555dup	ENSP00000417241.2:p.Tyr1852Ter
ENST00000470026.6:c.5558dup	ENSP00000419274.2:p.Tyr1853Ter
ENST00000473961.6:c.5432dup	ENSP00000420201.2:p.Tyr1811Ter
ENST00000476777.6:c.5552dup	ENSP00000417554.2:p.Tyr1851Ter
ENST00000477152.6:c.5480dup	ENSP00000419988.2:p.Tyr1827Ter
ENST00000478531.6:c.2246dup	ENSP00000420412.2:p.Tyr749Ter
ENST00000489037.2:c.5480dup	ENSP00000420781.2:p.Tyr1827Ter
ENST00000493919.6:c.2108dup	ENSP00000418819.2:p.Tyr703Ter
ENST00000494123.6:c.5558dup	ENSP00000419103.2:p.Tyr1853Ter
ENST00000497488.2:c.4670dup	ENSP00000418986.2:p.Tyr1557Ter
ENST00000618469.2:c.5558dup	ENSP00000478114.2:p.Tyr1853Ter
ENST00000634433.2:c.5435dup	ENSP00000489431.2:p.Tyr1812Ter
ENST00000644379.2:c.5624dup	ENSP00000496570.2:p.Tyr1875Ter
ENST00000644555.2:c.2108dup	ENSP00000494614.2:p.Tyr703Ter
ENST00000652672.2:c.5417dup	ENSP00000498906.2:p.Tyr1806Ter
ENST00000484087.6:c.2120dup	ENSP00000419481.2:p.Tyr707Ter
ENST00000700081.1:n.1441dup
ENST00000700082.1:n.922dup
ENST00000357654.9:c.5558dup MANE Select	ENSP00000350283.3:p.Tyr1853Ter
ENST00000471181.7:c.5621dup	ENSP00000418960.2:p.Tyr1874Ter
ENST00000644379.1:c.1945dup
ENST00000352993.7:c.2132dup	ENSP00000312236.5:p.Tyr711Ter
ENST00000357654.7:c.5558dup	ENSP00000350283.3:p.Tyr1853Ter
ENST00000461221.5:c.*5341dup	ENSP00000418548.1:n.*5341dup
ENST00000468300.5:c.*72dup	ENSP00000417148.1:n.*72dup
ENST00000471181.6:c.5621dup	ENSP00000418960.2:p.Tyr1874Ter
ENST00000491747.6:c.2246dup	ENSP00000420705.2:p.Tyr749Ter
ENST00000493795.5:c.5417dup	ENSP00000418775.1:p.Tyr1806Ter
ENST00000586385.5:c.488dup	ENSP00000465818.1:p.Tyr163Ter
ENST00000591534.5:c.1031dup	ENSP00000467329.1:p.Tyr344Ter
ENST00000591849.5:c.257dup	ENSP00000465347.1:p.Tyr86Ter
NM_007294.3:c.5558dup , LRG_292t1:c.5558dup	NP_009225.1:p.Tyr1853Ter
NM_007297.3:c.5417dup	NP_009228.2:p.Tyr1806Ter
NM_007298.3:c.2246dup	NP_009229.2:p.Tyr749Ter
NM_007299.3:c.*72dup	NP_009230.2:n.*72dup
NM_007300.3:c.5621dup	NP_009231.2:p.Tyr1874Ter
NR_027676.1:n.5694dup
NM_007294.4:c.5558dup MANE Select	NP_009225.1:p.Tyr1853Ter
NM_007297.4:c.5417dup	NP_009228.2:p.Tyr1806Ter
NM_007299.4:c.*72dup	NP_009230.2:n.*72dup
NM_007300.4:c.5621dup	NP_009231.2:p.Tyr1874Ter
NR_027676.2:n.5735dup