Canonical Allele Identifier: CA2580094253

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2009017
• ClinVar RCV Id: RCV002829087

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091526_43091539del , CM000679.2:g.43091526_43091539del	GRCh38
NC_000017.10:g.41243543_41243556del , CM000679.1:g.41243543_41243556del	GRCh37
NC_000017.9:g.38497069_38497082del	NCBI36
NG_005905.2:g.126447_126460del , LRG_292:g.126447_126460del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.4058_4071del
ENST00000461574.2:c.3994_4007del	ENSP00000417241.2:p.Gly1332Ter
ENST00000470026.6:c.3994_4007del	ENSP00000419274.2:p.Gly1332Ter
ENST00000473961.6:c.3868_3881del	ENSP00000420201.2:p.Gly1290Ter
ENST00000476777.6:c.3991_4004del	ENSP00000417554.2:p.Gly1331Ter
ENST00000477152.6:c.3916_3929del	ENSP00000419988.2:p.Gly1306Ter
ENST00000478531.6:c.785-505_785-492del	ENSP00000420412.2:n.785-505_785-492del
ENST00000489037.2:c.3916_3929del	ENSP00000420781.2:p.Gly1306Ter
ENST00000493919.6:c.647-505_647-492del	ENSP00000418819.2:n.647-505_647-492del
ENST00000494123.6:c.3994_4007del	ENSP00000419103.2:p.Gly1332Ter
ENST00000497488.2:c.3106_3119del	ENSP00000418986.2:p.Gly1036Ter
ENST00000618469.2:c.3994_4007del	ENSP00000478114.2:p.Gly1332Ter
ENST00000634433.2:c.3871_3884del	ENSP00000489431.2:p.Gly1291Ter
ENST00000644379.2:c.3994_4007del	ENSP00000496570.2:p.Gly1332Ter
ENST00000644555.2:c.647-505_647-492del	ENSP00000494614.2:n.647-505_647-492del
ENST00000652672.2:c.3853_3866del	ENSP00000498906.2:p.Gly1285Ter
ENST00000484087.6:c.665-505_665-492del	ENSP00000419481.2:n.665-505_665-492del
ENST00000700182.1:c.707-505_707-492del	ENSP00000514849.1:n.707-505_707-492del
ENST00000357654.9:c.3994_4007del MANE Select	ENSP00000350283.3:p.Gly1332Ter
ENST00000471181.7:c.3994_4007del	ENSP00000418960.2:p.Gly1332Ter
ENST00000644379.1:c.315_328del
ENST00000352993.7:c.671-505_671-492del	ENSP00000312236.5:n.671-505_671-492del
ENST00000354071.7:c.3994_4007del	ENSP00000326002.7:p.Gly1332Ter
ENST00000357654.7:c.3994_4007del	ENSP00000350283.3:p.Gly1332Ter
ENST00000461221.5:c.*3777_*3790del	ENSP00000418548.1:n.*3777_*3790del
ENST00000461574.1:c.288_301del
ENST00000468300.5:c.788-505_788-492del	ENSP00000417148.1:n.788-505_788-492del
ENST00000471181.6:c.3994_4007del	ENSP00000418960.2:p.Gly1332Ter
ENST00000478531.5:c.785-505_785-492del	ENSP00000420412.1:n.785-505_785-492del
ENST00000484087.5:c.410-505_410-492del	ENSP00000419481.1:n.410-505_410-492del
ENST00000487825.5:c.413-505_413-492del	ENSP00000418212.1:n.413-505_413-492del
ENST00000491747.6:c.788-505_788-492del	ENSP00000420705.2:n.788-505_788-492del
ENST00000493795.5:c.3853_3866del	ENSP00000418775.1:p.Gly1285Ter
ENST00000493919.5:c.647-505_647-492del	ENSP00000418819.1:n.647-505_647-492del
ENST00000586385.5:c.5-27586_5-27573del	ENSP00000465818.1:n.5-27586_5-27573del
ENST00000591534.5:c.-43-17016_-43-17003del	ENSP00000467329.1:n.-43-17016_-43-17003del
ENST00000591849.5:c.-99+33734_-99+33747del	ENSP00000465347.1:n.-99+33734_-99+33747del
NM_007294.3:c.3994_4007del , LRG_292t1:c.3994_4007del	NP_009225.1:p.Gly1332Ter
NM_007297.3:c.3853_3866del	NP_009228.2:p.Gly1285Ter
NM_007298.3:c.788-505_788-492del	NP_009229.2:n.788-505_788-492del
NM_007299.3:c.788-505_788-492del	NP_009230.2:n.788-505_788-492del
NM_007300.3:c.3994_4007del	NP_009231.2:p.Gly1332Ter
NR_027676.1:n.4130_4143del
NM_007294.4:c.3994_4007del MANE Select	NP_009225.1:p.Gly1332Ter
NM_007297.4:c.3853_3866del	NP_009228.2:p.Gly1285Ter
NM_007299.4:c.788-505_788-492del	NP_009230.2:n.788-505_788-492del
NM_007300.4:c.3994_4007del	NP_009231.2:p.Gly1332Ter
NR_027676.2:n.4171_4184del