Canonical Allele Identifier: CA2580093820

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2431297
• ClinVar RCV Id: RCV003140357 ; RCV003645332

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091950_43091953del , CM000679.2:g.43091950_43091953del	GRCh38
NC_000017.10:g.41243967_41243970del , CM000679.1:g.41243967_41243970del	GRCh37
NC_000017.9:g.38497493_38497496del	NCBI36
NG_005905.2:g.126031_126034del , LRG_292:g.126031_126034del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3642_3645del
ENST00000461574.2:c.3578_3581del	ENSP00000417241.2:p.Phe1193SerfsTer16
ENST00000470026.6:c.3578_3581del	ENSP00000419274.2:p.Phe1193SerfsTer16
ENST00000473961.6:c.3452_3455del	ENSP00000420201.2:p.Phe1151SerfsTer16
ENST00000476777.6:c.3575_3578del	ENSP00000417554.2:p.Phe1192SerfsTer16
ENST00000477152.6:c.3500_3503del	ENSP00000419988.2:p.Phe1167SerfsTer16
ENST00000478531.6:c.785-921_785-918del	ENSP00000420412.2:n.785-921_785-918del
ENST00000489037.2:c.3500_3503del	ENSP00000420781.2:p.Phe1167SerfsTer16
ENST00000493919.6:c.647-921_647-918del	ENSP00000418819.2:n.647-921_647-918del
ENST00000494123.6:c.3578_3581del	ENSP00000419103.2:p.Phe1193SerfsTer16
ENST00000497488.2:c.2690_2693del	ENSP00000418986.2:p.Phe897SerfsTer16
ENST00000618469.2:c.3578_3581del	ENSP00000478114.2:p.Phe1193SerfsTer16
ENST00000634433.2:c.3455_3458del	ENSP00000489431.2:p.Phe1152SerfsTer16
ENST00000644379.2:c.3578_3581del	ENSP00000496570.2:p.Phe1193SerfsTer16
ENST00000644555.2:c.647-921_647-918del	ENSP00000494614.2:n.647-921_647-918del
ENST00000652672.2:c.3437_3440del	ENSP00000498906.2:p.Phe1146SerfsTer16
ENST00000484087.6:c.665-921_665-918del	ENSP00000419481.2:n.665-921_665-918del
ENST00000700182.1:c.707-921_707-918del	ENSP00000514849.1:n.707-921_707-918del
ENST00000357654.9:c.3578_3581del MANE Select	ENSP00000350283.3:p.Phe1193SerfsTer16
ENST00000471181.7:c.3578_3581del	ENSP00000418960.2:p.Phe1193SerfsTer16
ENST00000352993.7:c.671-921_671-918del	ENSP00000312236.5:n.671-921_671-918del
ENST00000354071.7:c.3578_3581del	ENSP00000326002.7:p.Phe1193SerfsTer16
ENST00000357654.7:c.3578_3581del	ENSP00000350283.3:p.Phe1193SerfsTer16
ENST00000461221.5:c.*3361_*3364del	ENSP00000418548.1:n.*3361_*3364del
ENST00000468300.5:c.788-921_788-918del	ENSP00000417148.1:n.788-921_788-918del
ENST00000471181.6:c.3578_3581del	ENSP00000418960.2:p.Phe1193SerfsTer16
ENST00000478531.5:c.785-921_785-918del	ENSP00000420412.1:n.785-921_785-918del
ENST00000484087.5:c.410-921_410-918del	ENSP00000419481.1:n.410-921_410-918del
ENST00000487825.5:c.413-921_413-918del	ENSP00000418212.1:n.413-921_413-918del
ENST00000491747.6:c.788-921_788-918del	ENSP00000420705.2:n.788-921_788-918del
ENST00000493795.5:c.3437_3440del	ENSP00000418775.1:p.Phe1146SerfsTer16
ENST00000493919.5:c.647-921_647-918del	ENSP00000418819.1:n.647-921_647-918del
ENST00000586385.5:c.5-28002_5-27999del	ENSP00000465818.1:n.5-28002_5-27999del
ENST00000591534.5:c.-43-17432_-43-17429del	ENSP00000467329.1:n.-43-17432_-43-17429del
ENST00000591849.5:c.-99+33318_-99+33321del	ENSP00000465347.1:n.-99+33318_-99+33321del
NM_007294.3:c.3578_3581del , LRG_292t1:c.3578_3581del	NP_009225.1:p.Phe1193SerfsTer16
NM_007297.3:c.3437_3440del	NP_009228.2:p.Phe1146SerfsTer16
NM_007298.3:c.788-921_788-918del	NP_009229.2:n.788-921_788-918del
NM_007299.3:c.788-921_788-918del	NP_009230.2:n.788-921_788-918del
NM_007300.3:c.3578_3581del	NP_009231.2:p.Phe1193SerfsTer16
NR_027676.1:n.3714_3717del
NM_007294.4:c.3578_3581del MANE Select	NP_009225.1:p.Phe1193SerfsTer16
NM_007297.4:c.3437_3440del	NP_009228.2:p.Phe1146SerfsTer16
NM_007299.4:c.788-921_788-918del	NP_009230.2:n.788-921_788-918del
NM_007300.4:c.3578_3581del	NP_009231.2:p.Phe1193SerfsTer16
NR_027676.2:n.3755_3758del