Canonical Allele Identifier: CA913187817

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 630631
• ClinVar RCV Id: RCV000776568 ; RCV001340531
• dbSNP Id: rs1567790889

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091909_43091910delinsCT , CM000679.2:g.43091909_43091910delinsCT	GRCh38
NC_000017.10:g.41243926_41243927delinsCT , CM000679.1:g.41243926_41243927delinsCT	GRCh37
NC_000017.9:g.38497452_38497453delinsCT	NCBI36
NG_005905.2:g.126074_126075delinsAG , LRG_292:g.126074_126075delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3685_3686delinsAG
ENST00000461574.2:c.3621_3622delinsAG	ENSP00000417241.2:p.Lys1208Glu
ENST00000470026.6:c.3621_3622delinsAG	ENSP00000419274.2:p.Lys1208Glu
ENST00000473961.6:c.3495_3496delinsAG	ENSP00000420201.2:p.Lys1166Glu
ENST00000476777.6:c.3618_3619delinsAG	ENSP00000417554.2:p.Lys1207Glu
ENST00000477152.6:c.3543_3544delinsAG	ENSP00000419988.2:p.Lys1182Glu
ENST00000478531.6:c.785-878_785-877delinsAG	ENSP00000420412.2:n.785-878_785-877delinsAG
ENST00000489037.2:c.3543_3544delinsAG	ENSP00000420781.2:p.Lys1182Glu
ENST00000493919.6:c.647-878_647-877delinsAG	ENSP00000418819.2:n.647-878_647-877delinsAG
ENST00000494123.6:c.3621_3622delinsAG	ENSP00000419103.2:p.Lys1208Glu
ENST00000497488.2:c.2733_2734delinsAG	ENSP00000418986.2:p.Lys912Glu
ENST00000618469.2:c.3621_3622delinsAG	ENSP00000478114.2:p.Lys1208Glu
ENST00000634433.2:c.3498_3499delinsAG	ENSP00000489431.2:p.Lys1167Glu
ENST00000644379.2:c.3621_3622delinsAG	ENSP00000496570.2:p.Lys1208Glu
ENST00000644555.2:c.647-878_647-877delinsAG	ENSP00000494614.2:n.647-878_647-877delinsAG
ENST00000652672.2:c.3480_3481delinsAG	ENSP00000498906.2:p.Lys1161Glu
ENST00000484087.6:c.665-878_665-877delinsAG	ENSP00000419481.2:n.665-878_665-877delinsAG
ENST00000700182.1:c.707-878_707-877delinsAG	ENSP00000514849.1:n.707-878_707-877delinsAG
ENST00000357654.9:c.3621_3622delinsAG MANE Select	ENSP00000350283.3:p.Lys1208Glu
ENST00000471181.7:c.3621_3622delinsAG	ENSP00000418960.2:p.Lys1208Glu
ENST00000352993.7:c.671-878_671-877delinsAG	ENSP00000312236.5:n.671-878_671-877delinsAG
ENST00000354071.7:c.3621_3622delinsAG	ENSP00000326002.7:p.Lys1208Glu
ENST00000357654.7:c.3621_3622delinsAG	ENSP00000350283.3:p.Lys1208Glu
ENST00000461221.5:c.*3404_*3405delinsAG	ENSP00000418548.1:n.*3404_*3405delinsAG
ENST00000468300.5:c.788-878_788-877delinsAG	ENSP00000417148.1:n.788-878_788-877delinsAG
ENST00000471181.6:c.3621_3622delinsAG	ENSP00000418960.2:p.Lys1208Glu
ENST00000478531.5:c.785-878_785-877delinsAG	ENSP00000420412.1:n.785-878_785-877delinsAG
ENST00000484087.5:c.410-878_410-877delinsAG	ENSP00000419481.1:n.410-878_410-877delinsAG
ENST00000487825.5:c.413-878_413-877delinsAG	ENSP00000418212.1:n.413-878_413-877delinsAG
ENST00000491747.6:c.788-878_788-877delinsAG	ENSP00000420705.2:n.788-878_788-877delinsAG
ENST00000493795.5:c.3480_3481delinsAG	ENSP00000418775.1:p.Lys1161Glu
ENST00000493919.5:c.647-878_647-877delinsAG	ENSP00000418819.1:n.647-878_647-877delinsAG
ENST00000586385.5:c.5-27959_5-27958delinsAG	ENSP00000465818.1:n.5-27959_5-27958delinsAG
ENST00000591534.5:c.-43-17389_-43-17388delinsAG	ENSP00000467329.1:n.-43-17389_-43-17388delinsAG
ENST00000591849.5:c.-99+33361_-99+33362delinsAG	ENSP00000465347.1:n.-99+33361_-99+33362delinsAG
NM_007294.3:c.3621_3622delinsAG , LRG_292t1:c.3621_3622delinsAG	NP_009225.1:p.Lys1208Glu
NM_007297.3:c.3480_3481delinsAG	NP_009228.2:p.Lys1161Glu
NM_007298.3:c.788-878_788-877delinsAG	NP_009229.2:n.788-878_788-877delinsAG
NM_007299.3:c.788-878_788-877delinsAG	NP_009230.2:n.788-878_788-877delinsAG
NM_007300.3:c.3621_3622delinsAG	NP_009231.2:p.Lys1208Glu
NR_027676.1:n.3757_3758delinsAG
NM_007294.4:c.3621_3622delinsAG MANE Select	NP_009225.1:p.Lys1208Glu
NM_007297.4:c.3480_3481delinsAG	NP_009228.2:p.Lys1161Glu
NM_007299.4:c.788-878_788-877delinsAG	NP_009230.2:n.788-878_788-877delinsAG
NM_007300.4:c.3621_3622delinsAG	NP_009231.2:p.Lys1208Glu
NR_027676.2:n.3798_3799delinsAG