Canonical Allele Identifier: CA001624

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 37469
• ClinVar RCV Id: RCV000031050 ; RCV000047838 ; RCV000129993 ; RCV000236325 ; RCV001353521 ; RCV002496472
• dbSNP Id: rs80357524
• ExAC: 17:41245114 TG / T
• gnomAD v2: 17-41245114-TG-T
• gnomAD v4: 17-43093097-TG-T
• MyVariant Identifiers: chr17:g.41245115del (hg19) ; chr17:g.43093098del (hg38)
• PubMed: PMID:15383404 ; PMID:16030099 ; PMID:16267036 ; PMID:16455195 ; PMID:16685647 ; PMID:16949048 ; PMID:17100994 ; PMID:17591843 ; PMID:17925560 ; PMID:19241424 ; PMID:20104584 ; PMID:22217648 ; PMID:22798144 ; PMID:23233716 ; PMID:25186627 ; PMID:25628955 ; PMID:25863477 ; PMID:26295337 ; PMID:26402875

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093101del , CM000679.2:g.43093101del	GRCh38
NC_000017.10:g.41245118del , CM000679.1:g.41245118del	GRCh37
NC_000017.9:g.38498644del	NCBI36
NG_005905.2:g.124886del , LRG_292:g.124886del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2497del
ENST00000461574.2:c.2433del	ENSP00000417241.2:p.Lys812ArgfsTer3
ENST00000470026.6:c.2433del	ENSP00000419274.2:p.Lys812ArgfsTer3
ENST00000473961.6:c.2307del	ENSP00000420201.2:p.Lys770ArgfsTer3
ENST00000476777.6:c.2430del	ENSP00000417554.2:p.Lys811ArgfsTer3
ENST00000477152.6:c.2355del	ENSP00000419988.2:p.Lys786ArgfsTer3
ENST00000478531.6:c.784+1646del	ENSP00000420412.2:n.784+1646del
ENST00000489037.2:c.2355del	ENSP00000420781.2:p.Lys786ArgfsTer3
ENST00000493919.6:c.646+1646del	ENSP00000418819.2:n.646+1646del
ENST00000494123.6:c.2433del	ENSP00000419103.2:p.Lys812ArgfsTer3
ENST00000497488.2:c.1545del	ENSP00000418986.2:p.Lys516ArgfsTer3
ENST00000618469.2:c.2433del	ENSP00000478114.2:p.Lys812ArgfsTer3
ENST00000634433.2:c.2310del	ENSP00000489431.2:p.Lys771ArgfsTer3
ENST00000644379.2:c.2433del	ENSP00000496570.2:p.Lys812ArgfsTer3
ENST00000644555.2:c.646+1646del	ENSP00000494614.2:n.646+1646del
ENST00000652672.2:c.2292del	ENSP00000498906.2:p.Lys765ArgfsTer3
ENST00000484087.6:c.664+1646del	ENSP00000419481.2:n.664+1646del
ENST00000700182.1:c.706+1646del	ENSP00000514849.1:n.706+1646del
ENST00000357654.9:c.2433del MANE Select	ENSP00000350283.3:p.Lys812ArgfsTer3
ENST00000471181.7:c.2433del	ENSP00000418960.2:p.Lys812ArgfsTer3
ENST00000352993.7:c.671-2066del	ENSP00000312236.5:n.671-2066del
ENST00000354071.7:c.2433del	ENSP00000326002.7:p.Lys812ArgfsTer3
ENST00000357654.7:c.2433del	ENSP00000350283.3:p.Lys812ArgfsTer3
ENST00000461221.5:c.*2216del	ENSP00000418548.1:n.*2216del
ENST00000468300.5:c.787+1646del	ENSP00000417148.1:n.787+1646del
ENST00000471181.6:c.2433del	ENSP00000418960.2:p.Lys812ArgfsTer3
ENST00000478531.5:c.784+1646del	ENSP00000420412.1:n.784+1646del
ENST00000484087.5:c.409+1646del	ENSP00000419481.1:n.409+1646del
ENST00000487825.5:c.412+1646del	ENSP00000418212.1:n.412+1646del
ENST00000491747.6:c.787+1646del	ENSP00000420705.2:n.787+1646del
ENST00000493795.5:c.2292del	ENSP00000418775.1:p.Lys765ArgfsTer3
ENST00000493919.5:c.646+1646del	ENSP00000418819.1:n.646+1646del
ENST00000586385.5:c.5-29147del	ENSP00000465818.1:n.5-29147del
ENST00000591534.5:c.-43-18577del	ENSP00000467329.1:n.-43-18577del
ENST00000591849.5:c.-99+32173del	ENSP00000465347.1:n.-99+32173del
ENST00000634433.1:c.2310del	ENSP00000489431.1:p.Lys771ArgfsTer3
NM_007294.3:c.2433del , LRG_292t1:c.2433del	NP_009225.1:p.Lys812ArgfsTer3
NM_007297.3:c.2292del	NP_009228.2:p.Lys765ArgfsTer3
NM_007298.3:c.787+1646del	NP_009229.2:n.787+1646del
NM_007299.3:c.787+1646del	NP_009230.2:n.787+1646del
NM_007300.3:c.2433del	NP_009231.2:p.Lys812ArgfsTer3
NR_027676.1:n.2569del
NM_007294.4:c.2433del MANE Select	NP_009225.1:p.Lys812ArgfsTer3
NM_007297.4:c.2292del	NP_009228.2:p.Lys765ArgfsTer3
NM_007299.4:c.787+1646del	NP_009230.2:n.787+1646del
NM_007300.4:c.2433del	NP_009231.2:p.Lys812ArgfsTer3
NR_027676.2:n.2610del