Canonical Allele Identifier: CA645578316

Gene: BRCA1

Linked Data

• COSMIC: COSM112117

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091883_43091890dup , CM000679.2:g.43091883_43091890dup	GRCh38
NC_000017.10:g.41243900_41243907dup , CM000679.1:g.41243900_41243907dup	GRCh37
NC_000017.9:g.38497426_38497433dup	NCBI36
NG_005905.2:g.126094_126101dup , LRG_292:g.126094_126101dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3705_3712dup
ENST00000461574.2:c.3641_3648dup	ENSP00000417241.2:p.Ser1217ArgfsTer21
ENST00000470026.6:c.3641_3648dup	ENSP00000419274.2:p.Ser1217ArgfsTer21
ENST00000473961.6:c.3515_3522dup	ENSP00000420201.2:p.Ser1175ArgfsTer21
ENST00000476777.6:c.3638_3645dup	ENSP00000417554.2:p.Ser1216ArgfsTer21
ENST00000477152.6:c.3563_3570dup	ENSP00000419988.2:p.Ser1191ArgfsTer21
ENST00000478531.6:c.785-858_785-851dup	ENSP00000420412.2:n.785-858_785-851dup
ENST00000489037.2:c.3563_3570dup	ENSP00000420781.2:p.Ser1191ArgfsTer21
ENST00000493919.6:c.647-858_647-851dup	ENSP00000418819.2:n.647-858_647-851dup
ENST00000494123.6:c.3641_3648dup	ENSP00000419103.2:p.Ser1217ArgfsTer21
ENST00000497488.2:c.2753_2760dup	ENSP00000418986.2:p.Ser921ArgfsTer21
ENST00000618469.2:c.3641_3648dup	ENSP00000478114.2:p.Ser1217ArgfsTer21
ENST00000634433.2:c.3518_3525dup	ENSP00000489431.2:p.Ser1176ArgfsTer21
ENST00000644379.2:c.3641_3648dup	ENSP00000496570.2:p.Ser1217ArgfsTer21
ENST00000644555.2:c.647-858_647-851dup	ENSP00000494614.2:n.647-858_647-851dup
ENST00000652672.2:c.3500_3507dup	ENSP00000498906.2:p.Ser1170ArgfsTer21
ENST00000484087.6:c.665-858_665-851dup	ENSP00000419481.2:n.665-858_665-851dup
ENST00000700182.1:c.707-858_707-851dup	ENSP00000514849.1:n.707-858_707-851dup
ENST00000357654.9:c.3641_3648dup MANE Select	ENSP00000350283.3:p.Ser1217ArgfsTer21
ENST00000471181.7:c.3641_3648dup	ENSP00000418960.2:p.Ser1217ArgfsTer21
ENST00000352993.7:c.671-858_671-851dup	ENSP00000312236.5:n.671-858_671-851dup
ENST00000354071.7:c.3641_3648dup	ENSP00000326002.7:p.Ser1217ArgfsTer21
ENST00000357654.7:c.3641_3648dup	ENSP00000350283.3:p.Ser1217ArgfsTer21
ENST00000461221.5:c.*3424_*3431dup	ENSP00000418548.1:n.*3424_*3431dup
ENST00000468300.5:c.788-858_788-851dup	ENSP00000417148.1:n.788-858_788-851dup
ENST00000471181.6:c.3641_3648dup	ENSP00000418960.2:p.Ser1217ArgfsTer21
ENST00000478531.5:c.785-858_785-851dup	ENSP00000420412.1:n.785-858_785-851dup
ENST00000484087.5:c.410-858_410-851dup	ENSP00000419481.1:n.410-858_410-851dup
ENST00000487825.5:c.413-858_413-851dup	ENSP00000418212.1:n.413-858_413-851dup
ENST00000491747.6:c.788-858_788-851dup	ENSP00000420705.2:n.788-858_788-851dup
ENST00000493795.5:c.3500_3507dup	ENSP00000418775.1:p.Ser1170ArgfsTer21
ENST00000493919.5:c.647-858_647-851dup	ENSP00000418819.1:n.647-858_647-851dup
ENST00000586385.5:c.5-27939_5-27932dup	ENSP00000465818.1:n.5-27939_5-27932dup
ENST00000591534.5:c.-43-17369_-43-17362dup	ENSP00000467329.1:n.-43-17369_-43-17362dup
ENST00000591849.5:c.-99+33381_-99+33388dup	ENSP00000465347.1:n.-99+33381_-99+33388dup
NM_007294.3:c.3641_3648dup , LRG_292t1:c.3641_3648dup	NP_009225.1:p.Ser1217ArgfsTer21
NM_007297.3:c.3500_3507dup	NP_009228.2:p.Ser1170ArgfsTer21
NM_007298.3:c.788-858_788-851dup	NP_009229.2:n.788-858_788-851dup
NM_007299.3:c.788-858_788-851dup	NP_009230.2:n.788-858_788-851dup
NM_007300.3:c.3641_3648dup	NP_009231.2:p.Ser1217ArgfsTer21
NR_027676.1:n.3777_3784dup
NM_007294.4:c.3641_3648dup MANE Select	NP_009225.1:p.Ser1217ArgfsTer21
NM_007297.4:c.3500_3507dup	NP_009228.2:p.Ser1170ArgfsTer21
NM_007299.4:c.788-858_788-851dup	NP_009230.2:n.788-858_788-851dup
NM_007300.4:c.3641_3648dup	NP_009231.2:p.Ser1217ArgfsTer21
NR_027676.2:n.3818_3825dup