Canonical Allele Identifier: CA645373168
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 431257
dbSNP Id: rs1135401871

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091574_43091575del , CM000679.2:g.43091574_43091575del GRCh38
NC_000017.10:g.41243591_41243592del , CM000679.1:g.41243591_41243592del GRCh37
NC_000017.9:g.38497117_38497118del NCBI36
NG_005905.2:g.126409_126410del , LRG_292:g.126409_126410del

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.4020_4021del
ENST00000461574.2:c.3956_3957del ENSP00000417241.2:p.Gly1319ValfsTer10
ENST00000470026.6:c.3956_3957del ENSP00000419274.2:p.Gly1319ValfsTer10
ENST00000473961.6:c.3830_3831del ENSP00000420201.2:p.Gly1277ValfsTer10
ENST00000476777.6:c.3953_3954del ENSP00000417554.2:p.Gly1318ValfsTer10
ENST00000477152.6:c.3878_3879del ENSP00000419988.2:p.Gly1293ValfsTer10
ENST00000478531.6:c.785-543_785-542del ENSP00000420412.2:n.785-543_785-542del
ENST00000489037.2:c.3878_3879del ENSP00000420781.2:p.Gly1293ValfsTer10
ENST00000493919.6:c.647-543_647-542del ENSP00000418819.2:n.647-543_647-542del
ENST00000494123.6:c.3956_3957del ENSP00000419103.2:p.Gly1319ValfsTer10
ENST00000497488.2:c.3068_3069del ENSP00000418986.2:p.Gly1023ValfsTer10
ENST00000618469.2:c.3956_3957del ENSP00000478114.2:p.Gly1319ValfsTer10
ENST00000634433.2:c.3833_3834del ENSP00000489431.2:p.Gly1278ValfsTer10
ENST00000644379.2:c.3956_3957del ENSP00000496570.2:p.Gly1319ValfsTer10
ENST00000644555.2:c.647-543_647-542del ENSP00000494614.2:n.647-543_647-542del
ENST00000652672.2:c.3815_3816del ENSP00000498906.2:p.Gly1272ValfsTer10
ENST00000484087.6:c.665-543_665-542del ENSP00000419481.2:n.665-543_665-542del
ENST00000700182.1:c.707-543_707-542del ENSP00000514849.1:n.707-543_707-542del
ENST00000357654.9:c.3956_3957del MANE Select ENSP00000350283.3:p.Gly1319ValfsTer10
ENST00000471181.7:c.3956_3957del ENSP00000418960.2:p.Gly1319ValfsTer10
ENST00000644379.1:c.277_278del
ENST00000352993.7:c.671-543_671-542del ENSP00000312236.5:n.671-543_671-542del
ENST00000354071.7:c.3956_3957del ENSP00000326002.7:p.Gly1319ValfsTer10
ENST00000357654.7:c.3956_3957del ENSP00000350283.3:p.Gly1319ValfsTer10
ENST00000461221.5:c.*3739_*3740del ENSP00000418548.1:n.*3739_*3740del
ENST00000461574.1:c.250_251del
ENST00000468300.5:c.788-543_788-542del ENSP00000417148.1:n.788-543_788-542del
ENST00000471181.6:c.3956_3957del ENSP00000418960.2:p.Gly1319ValfsTer10
ENST00000478531.5:c.785-543_785-542del ENSP00000420412.1:n.785-543_785-542del
ENST00000484087.5:c.410-543_410-542del ENSP00000419481.1:n.410-543_410-542del
ENST00000487825.5:c.413-543_413-542del ENSP00000418212.1:n.413-543_413-542del
ENST00000491747.6:c.788-543_788-542del ENSP00000420705.2:n.788-543_788-542del
ENST00000493795.5:c.3815_3816del ENSP00000418775.1:p.Gly1272ValfsTer10
ENST00000493919.5:c.647-543_647-542del ENSP00000418819.1:n.647-543_647-542del
ENST00000586385.5:c.5-27624_5-27623del ENSP00000465818.1:n.5-27624_5-27623del
ENST00000591534.5:c.-43-17054_-43-17053del ENSP00000467329.1:n.-43-17054_-43-17053de...
ENST00000591849.5:c.-99+33696_-99+33697del ENSP00000465347.1:n.-99+33696_-99+33697de...
NM_007294.3:c.3956_3957del , LRG_292t1:c.3956_3957del NP_009225.1:p.Gly1319ValfsTer10
NM_007297.3:c.3815_3816del NP_009228.2:p.Gly1272ValfsTer10
NM_007298.3:c.788-543_788-542del NP_009229.2:n.788-543_788-542del
NM_007299.3:c.788-543_788-542del NP_009230.2:n.788-543_788-542del
NM_007300.3:c.3956_3957del NP_009231.2:p.Gly1319ValfsTer10
NR_027676.1:n.4092_4093del
NM_007294.4:c.3956_3957del MANE Select NP_009225.1:p.Gly1319ValfsTer10
NM_007297.4:c.3815_3816del NP_009228.2:p.Gly1272ValfsTer10
NM_007299.4:c.788-543_788-542del NP_009230.2:n.788-543_788-542del
NM_007300.4:c.3956_3957del NP_009231.2:p.Gly1319ValfsTer10
NR_027676.2:n.4133_4134del