Canonical Allele Identifier: CA003086

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55322
• ClinVar RCV Id: RCV001554296
• dbSNP Id: rs80357653
• gnomAD v2: 17-41222994-AC-A
• gnomAD v4: 17-43070977-AC-A
• MyVariant Identifiers: chr17:g.41222995del (hg19) ; chr17:g.43070978del (hg38)
• PubMed: PMID:11710890 ; PMID:12112655 ; PMID:15217508 ; PMID:17064299 ; PMID:21156238 ; PMID:25476495

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070980del , CM000679.2:g.43070980del	GRCh38
NC_000017.10:g.41222997del , CM000679.1:g.41222997del	GRCh37
NC_000017.9:g.38476523del	NCBI36
NG_005905.2:g.147006del , LRG_292:g.147006del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4933del	ENSP00000417241.2:p.Val1645SerfsTer12
ENST00000470026.6:c.4936del	ENSP00000419274.2:p.Val1646SerfsTer12
ENST00000473961.6:c.4810del	ENSP00000420201.2:p.Val1604SerfsTer12
ENST00000476777.6:c.4930del	ENSP00000417554.2:p.Val1644SerfsTer12
ENST00000477152.6:c.4858del	ENSP00000419988.2:p.Val1620SerfsTer12
ENST00000478531.6:c.1624del	ENSP00000420412.2:p.Val542SerfsTer12
ENST00000489037.2:c.4858del	ENSP00000420781.2:p.Val1620SerfsTer12
ENST00000493919.6:c.1486del	ENSP00000418819.2:p.Val496SerfsTer12
ENST00000494123.6:c.4936del	ENSP00000419103.2:p.Val1646SerfsTer12
ENST00000497488.2:c.4048del	ENSP00000418986.2:p.Val1350SerfsTer12
ENST00000618469.2:c.4936del	ENSP00000478114.2:p.Val1646SerfsTer12
ENST00000634433.2:c.4813del	ENSP00000489431.2:p.Val1605SerfsTer12
ENST00000644379.2:c.5002del	ENSP00000496570.2:p.Val1668SerfsTer12
ENST00000644555.2:c.1486del	ENSP00000494614.2:p.Val496SerfsTer12
ENST00000652672.2:c.4795del	ENSP00000498906.2:p.Val1599SerfsTer12
ENST00000484087.6:c.1498del	ENSP00000419481.2:p.Val500SerfsTer12
ENST00000700182.1:c.1543del	ENSP00000514849.1:p.Val515SerfsTer12
ENST00000357654.9:c.4936del MANE Select	ENSP00000350283.3:p.Val1646SerfsTer12
ENST00000471181.7:c.4999del	ENSP00000418960.2:p.Val1667SerfsTer12
ENST00000644379.1:c.1323del
ENST00000352993.7:c.1510del	ENSP00000312236.5:p.Val504SerfsTer12
ENST00000357654.7:c.4936del	ENSP00000350283.3:p.Val1646SerfsTer12
ENST00000461221.5:c.*4719del	ENSP00000418548.1:n.*4719del
ENST00000468300.5:c.1624del	ENSP00000417148.1:p.Val542SerfsTer12
ENST00000471181.6:c.4999del	ENSP00000418960.2:p.Val1667SerfsTer12
ENST00000472490.1:n.89del
ENST00000478531.5:c.1624del	ENSP00000420412.1:p.Val542SerfsTer12
ENST00000484087.5:c.1249del	ENSP00000419481.1:p.Val417SerfsTer12
ENST00000491747.6:c.1624del	ENSP00000420705.2:p.Val542SerfsTer12
ENST00000493795.5:c.4795del	ENSP00000418775.1:p.Val1599SerfsTer12
ENST00000493919.5:c.1486del	ENSP00000418819.1:p.Val496SerfsTer12
ENST00000586385.5:c.5-7027del	ENSP00000465818.1:n.5-7027del
ENST00000591534.5:c.409del	ENSP00000467329.1:p.Val137SerfsTer12
ENST00000591849.5:c.-98-20788del	ENSP00000465347.1:n.-98-20788del
NM_007294.3:c.4936del , LRG_292t1:c.4936del	NP_009225.1:p.Val1646SerfsTer12
NM_007297.3:c.4795del	NP_009228.2:p.Val1599SerfsTer12
NM_007298.3:c.1624del	NP_009229.2:p.Val542SerfsTer12
NM_007299.3:c.1624del	NP_009230.2:p.Val542SerfsTer12
NM_007300.3:c.4999del	NP_009231.2:p.Val1667SerfsTer12
NR_027676.1:n.5072del
NM_007294.4:c.4936del MANE Select	NP_009225.1:p.Val1646SerfsTer12
NM_007297.4:c.4795del	NP_009228.2:p.Val1599SerfsTer12
NM_007299.4:c.1624del	NP_009230.2:p.Val542SerfsTer12
NM_007300.4:c.4999del	NP_009231.2:p.Val1667SerfsTer12
NR_027676.2:n.5113del