Canonical Allele Identifier: CA2733925221

Gene: BRCA1

Linked Data

• dbSNP Id: rs2154277954

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091628_43091629insATTC , CM000679.2:g.43091628_43091629insATTC	GRCh38
NC_000017.10:g.41243645_41243646insATTC , CM000679.1:g.41243645_41243646insATTC	GRCh37
NC_000017.9:g.38497171_38497172insATTC	NCBI36
NG_005905.2:g.126355_126356insGAAT , LRG_292:g.126355_126356insGAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3966_3967insGAAT
ENST00000461574.2:c.3902_3903insGAAT	ENSP00000417241.2:p.Ser1301ArgfsTer3
ENST00000470026.6:c.3902_3903insGAAT	ENSP00000419274.2:p.Ser1301ArgfsTer3
ENST00000473961.6:c.3776_3777insGAAT	ENSP00000420201.2:p.Ser1259ArgfsTer3
ENST00000476777.6:c.3899_3900insGAAT	ENSP00000417554.2:p.Ser1300ArgfsTer3
ENST00000477152.6:c.3824_3825insGAAT	ENSP00000419988.2:p.Ser1275ArgfsTer3
ENST00000478531.6:c.785-597_785-596insGAAT	ENSP00000420412.2:n.785-597_785-596insGAAT
ENST00000489037.2:c.3824_3825insGAAT	ENSP00000420781.2:p.Ser1275ArgfsTer3
ENST00000493919.6:c.647-597_647-596insGAAT	ENSP00000418819.2:n.647-597_647-596insGAAT
ENST00000494123.6:c.3902_3903insGAAT	ENSP00000419103.2:p.Ser1301ArgfsTer3
ENST00000497488.2:c.3014_3015insGAAT	ENSP00000418986.2:p.Ser1005ArgfsTer3
ENST00000618469.2:c.3902_3903insGAAT	ENSP00000478114.2:p.Ser1301ArgfsTer3
ENST00000634433.2:c.3779_3780insGAAT	ENSP00000489431.2:p.Ser1260ArgfsTer3
ENST00000644379.2:c.3902_3903insGAAT	ENSP00000496570.2:p.Ser1301ArgfsTer3
ENST00000644555.2:c.647-597_647-596insGAAT	ENSP00000494614.2:n.647-597_647-596insGAAT
ENST00000652672.2:c.3761_3762insGAAT	ENSP00000498906.2:p.Ser1254ArgfsTer3
ENST00000484087.6:c.665-597_665-596insGAAT	ENSP00000419481.2:n.665-597_665-596insGAAT
ENST00000700182.1:c.707-597_707-596insGAAT	ENSP00000514849.1:n.707-597_707-596insGAAT
ENST00000357654.9:c.3902_3903insGAAT MANE Select	ENSP00000350283.3:p.Ser1301ArgfsTer3
ENST00000471181.7:c.3902_3903insGAAT	ENSP00000418960.2:p.Ser1301ArgfsTer3
ENST00000644379.1:c.223_224insGAAT
ENST00000352993.7:c.671-597_671-596insGAAT	ENSP00000312236.5:n.671-597_671-596insGAAT
ENST00000354071.7:c.3902_3903insGAAT	ENSP00000326002.7:p.Ser1301ArgfsTer3
ENST00000357654.7:c.3902_3903insGAAT	ENSP00000350283.3:p.Ser1301ArgfsTer3
ENST00000461221.5:c.*3685_*3686insGAAT	ENSP00000418548.1:n.*3685_*3686insGAAT
ENST00000461574.1:c.196_197insGAAT
ENST00000468300.5:c.788-597_788-596insGAAT	ENSP00000417148.1:n.788-597_788-596insGAAT
ENST00000471181.6:c.3902_3903insGAAT	ENSP00000418960.2:p.Ser1301ArgfsTer3
ENST00000478531.5:c.785-597_785-596insGAAT	ENSP00000420412.1:n.785-597_785-596insGAAT
ENST00000484087.5:c.410-597_410-596insGAAT	ENSP00000419481.1:n.410-597_410-596insGAAT
ENST00000487825.5:c.413-597_413-596insGAAT	ENSP00000418212.1:n.413-597_413-596insGAAT
ENST00000491747.6:c.788-597_788-596insGAAT	ENSP00000420705.2:n.788-597_788-596insGAAT
ENST00000493795.5:c.3761_3762insGAAT	ENSP00000418775.1:p.Ser1254ArgfsTer3
ENST00000493919.5:c.647-597_647-596insGAAT	ENSP00000418819.1:n.647-597_647-596insGAAT
ENST00000586385.5:c.5-27678_5-27677insGAAT	ENSP00000465818.1:n.5-27678_5-27677insGAAT
ENST00000591534.5:c.-43-17108_-43-17107insGAAT	ENSP00000467329.1:n.-43-17108_-43-17107insGAAT
ENST00000591849.5:c.-99+33642_-99+33643insGAAT	ENSP00000465347.1:n.-99+33642_-99+33643insGAAT
NM_007294.3:c.3902_3903insGAAT , LRG_292t1:c.3902_3903insGAAT	NP_009225.1:p.Ser1301ArgfsTer3
NM_007297.3:c.3761_3762insGAAT	NP_009228.2:p.Ser1254ArgfsTer3
NM_007298.3:c.788-597_788-596insGAAT	NP_009229.2:n.788-597_788-596insGAAT
NM_007299.3:c.788-597_788-596insGAAT	NP_009230.2:n.788-597_788-596insGAAT
NM_007300.3:c.3902_3903insGAAT	NP_009231.2:p.Ser1301ArgfsTer3
NR_027676.1:n.4038_4039insGAAT
NM_007294.4:c.3902_3903insGAAT MANE Select	NP_009225.1:p.Ser1301ArgfsTer3
NM_007297.4:c.3761_3762insGAAT	NP_009228.2:p.Ser1254ArgfsTer3
NM_007299.4:c.788-597_788-596insGAAT	NP_009230.2:n.788-597_788-596insGAAT
NM_007300.4:c.3902_3903insGAAT	NP_009231.2:p.Ser1301ArgfsTer3
NR_027676.2:n.4079_4080insGAAT