Canonical Allele Identifier: CA001851

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54693
• ClinVar RCV Id: RCV000111947 ; RCV000236503 ; RCV000572251
• dbSNP Id: rs80358332
• gnomAD v3: 17-43092694-ATAC-A
• gnomAD v4: 17-43092694-ATAC-A
• MyVariant Identifiers: chr17:g.41244712_41244714del (hg19) ; chr17:g.43092695_43092697del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092698_43092700del , CM000679.2:g.43092698_43092700del	GRCh38
NC_000017.10:g.41244715_41244717del , CM000679.1:g.41244715_41244717del	GRCh37
NC_000017.9:g.38498241_38498243del	NCBI36
NG_005905.2:g.125287_125289del , LRG_292:g.125287_125289del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.2898_2900del
ENST00000461574.2:c.2834_2836del	ENSP00000417241.2:p.Ser945del
ENST00000470026.6:c.2834_2836del	ENSP00000419274.2:p.Ser945del
ENST00000473961.6:c.2708_2710del	ENSP00000420201.2:p.Ser903del
ENST00000476777.6:c.2831_2833del	ENSP00000417554.2:p.Ser944del
ENST00000477152.6:c.2756_2758del	ENSP00000419988.2:p.Ser919del
ENST00000478531.6:c.785-1665_785-1663del	ENSP00000420412.2:n.785-1665_785-1663del
ENST00000489037.2:c.2756_2758del	ENSP00000420781.2:p.Ser919del
ENST00000493919.6:c.647-1665_647-1663del	ENSP00000418819.2:n.647-1665_647-1663del
ENST00000494123.6:c.2834_2836del	ENSP00000419103.2:p.Ser945del
ENST00000497488.2:c.1946_1948del	ENSP00000418986.2:p.Ser649del
ENST00000618469.2:c.2834_2836del	ENSP00000478114.2:p.Ser945del
ENST00000634433.2:c.2711_2713del	ENSP00000489431.2:p.Ser904del
ENST00000644379.2:c.2834_2836del	ENSP00000496570.2:p.Ser945del
ENST00000644555.2:c.647-1665_647-1663del	ENSP00000494614.2:n.647-1665_647-1663del
ENST00000652672.2:c.2693_2695del	ENSP00000498906.2:p.Ser898del
ENST00000484087.6:c.665-1665_665-1663del	ENSP00000419481.2:n.665-1665_665-1663del
ENST00000700182.1:c.707-1665_707-1663del	ENSP00000514849.1:n.707-1665_707-1663del
ENST00000357654.9:c.2834_2836del MANE Select	ENSP00000350283.3:p.Ser945del
ENST00000471181.7:c.2834_2836del	ENSP00000418960.2:p.Ser945del
ENST00000352993.7:c.671-1665_671-1663del	ENSP00000312236.5:n.671-1665_671-1663del
ENST00000354071.7:c.2834_2836del	ENSP00000326002.7:p.Ser945del
ENST00000357654.7:c.2834_2836del	ENSP00000350283.3:p.Ser945del
ENST00000461221.5:c.*2617_*2619del	ENSP00000418548.1:n.*2617_*2619del
ENST00000468300.5:c.788-1665_788-1663del	ENSP00000417148.1:n.788-1665_788-1663del
ENST00000471181.6:c.2834_2836del	ENSP00000418960.2:p.Ser945del
ENST00000478531.5:c.785-1665_785-1663del	ENSP00000420412.1:n.785-1665_785-1663del
ENST00000484087.5:c.410-1665_410-1663del	ENSP00000419481.1:n.410-1665_410-1663del
ENST00000487825.5:c.413-1665_413-1663del	ENSP00000418212.1:n.413-1665_413-1663del
ENST00000491747.6:c.788-1665_788-1663del	ENSP00000420705.2:n.788-1665_788-1663del
ENST00000493795.5:c.2693_2695del	ENSP00000418775.1:p.Ser898del
ENST00000493919.5:c.647-1665_647-1663del	ENSP00000418819.1:n.647-1665_647-1663del
ENST00000586385.5:c.5-28746_5-28744del	ENSP00000465818.1:n.5-28746_5-28744del
ENST00000591534.5:c.-43-18176_-43-18174del	ENSP00000467329.1:n.-43-18176_-43-18174del
ENST00000591849.5:c.-99+32574_-99+32576del	ENSP00000465347.1:n.-99+32574_-99+32576del
NM_007294.3:c.2834_2836del , LRG_292t1:c.2834_2836del	NP_009225.1:p.Ser945del
NM_007297.3:c.2693_2695del	NP_009228.2:p.Ser898del
NM_007298.3:c.788-1665_788-1663del	NP_009229.2:n.788-1665_788-1663del
NM_007299.3:c.788-1665_788-1663del	NP_009230.2:n.788-1665_788-1663del
NM_007300.3:c.2834_2836del	NP_009231.2:p.Ser945del
NR_027676.1:n.2970_2972del
NM_007294.4:c.2834_2836del MANE Select	NP_009225.1:p.Ser945del
NM_007297.4:c.2693_2695del	NP_009228.2:p.Ser898del
NM_007299.4:c.788-1665_788-1663del	NP_009230.2:n.788-1665_788-1663del
NM_007300.4:c.2834_2836del	NP_009231.2:p.Ser945del
NR_027676.2:n.3011_3013del