Canonical Allele Identifier: CA915950036

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 801067
• ClinVar RCV Id: RCV002298809 ; RCV003169523
• dbSNP Id: rs1597867185

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092667_43092671del , CM000679.2:g.43092667_43092671del	GRCh38
NC_000017.10:g.41244684_41244688del , CM000679.1:g.41244684_41244688del	GRCh37
NC_000017.9:g.38498210_38498214del	NCBI36
NG_005905.2:g.125313_125317del , LRG_292:g.125313_125317del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.2924_2928del
ENST00000461574.2:c.2860_2864del	ENSP00000417241.2:p.Leu954IlefsTer15
ENST00000470026.6:c.2860_2864del	ENSP00000419274.2:p.Leu954IlefsTer15
ENST00000473961.6:c.2734_2738del	ENSP00000420201.2:p.Leu912IlefsTer15
ENST00000476777.6:c.2857_2861del	ENSP00000417554.2:p.Leu953IlefsTer15
ENST00000477152.6:c.2782_2786del	ENSP00000419988.2:p.Leu928IlefsTer15
ENST00000478531.6:c.785-1639_785-1635del	ENSP00000420412.2:n.785-1639_785-1635del
ENST00000489037.2:c.2782_2786del	ENSP00000420781.2:p.Leu928IlefsTer15
ENST00000493919.6:c.647-1639_647-1635del	ENSP00000418819.2:n.647-1639_647-1635del
ENST00000494123.6:c.2860_2864del	ENSP00000419103.2:p.Leu954IlefsTer15
ENST00000497488.2:c.1972_1976del	ENSP00000418986.2:p.Leu658IlefsTer15
ENST00000618469.2:c.2860_2864del	ENSP00000478114.2:p.Leu954IlefsTer15
ENST00000634433.2:c.2737_2741del	ENSP00000489431.2:p.Leu913IlefsTer15
ENST00000644379.2:c.2860_2864del	ENSP00000496570.2:p.Leu954IlefsTer15
ENST00000644555.2:c.647-1639_647-1635del	ENSP00000494614.2:n.647-1639_647-1635del
ENST00000652672.2:c.2719_2723del	ENSP00000498906.2:p.Leu907IlefsTer15
ENST00000484087.6:c.665-1639_665-1635del	ENSP00000419481.2:n.665-1639_665-1635del
ENST00000700182.1:c.707-1639_707-1635del	ENSP00000514849.1:n.707-1639_707-1635del
ENST00000357654.9:c.2860_2864del MANE Select	ENSP00000350283.3:p.Leu954IlefsTer15
ENST00000471181.7:c.2860_2864del	ENSP00000418960.2:p.Leu954IlefsTer15
ENST00000352993.7:c.671-1639_671-1635del	ENSP00000312236.5:n.671-1639_671-1635del
ENST00000354071.7:c.2860_2864del	ENSP00000326002.7:p.Leu954IlefsTer15
ENST00000357654.7:c.2860_2864del	ENSP00000350283.3:p.Leu954IlefsTer15
ENST00000461221.5:c.*2643_*2647del	ENSP00000418548.1:n.*2643_*2647del
ENST00000468300.5:c.788-1639_788-1635del	ENSP00000417148.1:n.788-1639_788-1635del
ENST00000471181.6:c.2860_2864del	ENSP00000418960.2:p.Leu954IlefsTer15
ENST00000478531.5:c.785-1639_785-1635del	ENSP00000420412.1:n.785-1639_785-1635del
ENST00000484087.5:c.410-1639_410-1635del	ENSP00000419481.1:n.410-1639_410-1635del
ENST00000487825.5:c.413-1639_413-1635del	ENSP00000418212.1:n.413-1639_413-1635del
ENST00000491747.6:c.788-1639_788-1635del	ENSP00000420705.2:n.788-1639_788-1635del
ENST00000493795.5:c.2719_2723del	ENSP00000418775.1:p.Leu907IlefsTer15
ENST00000493919.5:c.647-1639_647-1635del	ENSP00000418819.1:n.647-1639_647-1635del
ENST00000586385.5:c.5-28720_5-28716del	ENSP00000465818.1:n.5-28720_5-28716del
ENST00000591534.5:c.-43-18150_-43-18146del	ENSP00000467329.1:n.-43-18150_-43-18146de...
ENST00000591849.5:c.-99+32600_-99+32604del	ENSP00000465347.1:n.-99+32600_-99+32604de...
NM_007294.3:c.2860_2864del , LRG_292t1:c.2860_2864del	NP_009225.1:p.Leu954IlefsTer15
NM_007297.3:c.2719_2723del	NP_009228.2:p.Leu907IlefsTer15
NM_007298.3:c.788-1639_788-1635del	NP_009229.2:n.788-1639_788-1635del
NM_007299.3:c.788-1639_788-1635del	NP_009230.2:n.788-1639_788-1635del
NM_007300.3:c.2860_2864del	NP_009231.2:p.Leu954IlefsTer15
NR_027676.1:n.2996_3000del
NM_007294.4:c.2860_2864del MANE Select	NP_009225.1:p.Leu954IlefsTer15
NM_007297.4:c.2719_2723del	NP_009228.2:p.Leu907IlefsTer15
NM_007299.4:c.788-1639_788-1635del	NP_009230.2:n.788-1639_788-1635del
NM_007300.4:c.2860_2864del	NP_009231.2:p.Leu954IlefsTer15
NR_027676.2:n.3037_3041del