Canonical Allele Identifier: CA2260782049

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091564_43091565delinsGT , CM000679.2:g.43091564_43091565delinsGT	GRCh38
NC_000017.10:g.41243581_41243582delinsGT , CM000679.1:g.41243581_41243582delinsGT	GRCh37
NC_000017.9:g.38497107_38497108delinsGT	NCBI36
NG_005905.2:g.126419_126420delinsAC , LRG_292:g.126419_126420delinsAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.4030_4031delinsAC
ENST00000461574.2:c.3966_3967delinsAC	ENSP00000417241.2:p.Lys1322=
ENST00000470026.6:c.3966_3967delinsAC	ENSP00000419274.2:p.Lys1322=
ENST00000473961.6:c.3840_3841delinsAC	ENSP00000420201.2:p.Lys1280=
ENST00000476777.6:c.3963_3964delinsAC	ENSP00000417554.2:p.Lys1321=
ENST00000477152.6:c.3888_3889delinsAC	ENSP00000419988.2:p.Lys1296=
ENST00000478531.6:c.785-533_785-532delinsAC	ENSP00000420412.2:n.785-533_785-532delinsAC
ENST00000489037.2:c.3888_3889delinsAC	ENSP00000420781.2:p.Lys1296=
ENST00000493919.6:c.647-533_647-532delinsAC	ENSP00000418819.2:n.647-533_647-532delinsAC
ENST00000494123.6:c.3966_3967delinsAC	ENSP00000419103.2:p.Lys1322=
ENST00000497488.2:c.3078_3079delinsAC	ENSP00000418986.2:p.Lys1026=
ENST00000618469.2:c.3966_3967delinsAC	ENSP00000478114.2:p.Lys1322=
ENST00000634433.2:c.3843_3844delinsAC	ENSP00000489431.2:p.Lys1281=
ENST00000644379.2:c.3966_3967delinsAC	ENSP00000496570.2:p.Lys1322=
ENST00000644555.2:c.647-533_647-532delinsAC	ENSP00000494614.2:n.647-533_647-532delinsAC
ENST00000652672.2:c.3825_3826delinsAC	ENSP00000498906.2:p.Lys1275=
ENST00000484087.6:c.665-533_665-532delinsAC	ENSP00000419481.2:n.665-533_665-532delinsAC
ENST00000700182.1:c.707-533_707-532delinsAC	ENSP00000514849.1:n.707-533_707-532delinsAC
ENST00000357654.9:c.3966_3967delinsAC MANE Select	ENSP00000350283.3:p.Lys1322=
ENST00000471181.7:c.3966_3967delinsAC	ENSP00000418960.2:p.Lys1322=
ENST00000644379.1:c.287_288delinsAC
ENST00000352993.7:c.671-533_671-532delinsAC	ENSP00000312236.5:n.671-533_671-532delinsAC
ENST00000354071.7:c.3966_3967delinsAC	ENSP00000326002.7:p.Lys1322=
ENST00000357654.7:c.3966_3967delinsAC	ENSP00000350283.3:p.Lys1322=
ENST00000461221.5:c.*3749_*3750delinsAC	ENSP00000418548.1:n.*3749_*3750delinsAC
ENST00000461574.1:c.260_261delinsAC
ENST00000468300.5:c.788-533_788-532delinsAC	ENSP00000417148.1:n.788-533_788-532delinsAC
ENST00000471181.6:c.3966_3967delinsAC	ENSP00000418960.2:p.Lys1322=
ENST00000478531.5:c.785-533_785-532delinsAC	ENSP00000420412.1:n.785-533_785-532delinsAC
ENST00000484087.5:c.410-533_410-532delinsAC	ENSP00000419481.1:n.410-533_410-532delinsAC
ENST00000487825.5:c.413-533_413-532delinsAC	ENSP00000418212.1:n.413-533_413-532delinsAC
ENST00000491747.6:c.788-533_788-532delinsAC	ENSP00000420705.2:n.788-533_788-532delinsAC
ENST00000493795.5:c.3825_3826delinsAC	ENSP00000418775.1:p.Lys1275=
ENST00000493919.5:c.647-533_647-532delinsAC	ENSP00000418819.1:n.647-533_647-532delinsAC
ENST00000586385.5:c.5-27614_5-27613delinsAC	ENSP00000465818.1:n.5-27614_5-27613delinsAC
ENST00000591534.5:c.-43-17044_-43-17043delinsAC	ENSP00000467329.1:n.-43-17044_-43-17043delinsAC
ENST00000591849.5:c.-99+33706_-99+33707delinsAC	ENSP00000465347.1:n.-99+33706_-99+33707delinsAC
NM_007294.3:c.3966_3967delinsAC , LRG_292t1:c.3966_3967delinsAC	NP_009225.1:p.Lys1322=
NM_007297.3:c.3825_3826delinsAC	NP_009228.2:p.Lys1275=
NM_007298.3:c.788-533_788-532delinsAC	NP_009229.2:n.788-533_788-532delinsAC
NM_007299.3:c.788-533_788-532delinsAC	NP_009230.2:n.788-533_788-532delinsAC
NM_007300.3:c.3966_3967delinsAC	NP_009231.2:p.Lys1322=
NR_027676.1:n.4102_4103delinsAC
NM_007294.4:c.3966_3967delinsAC MANE Select	NP_009225.1:p.Lys1322=
NM_007297.4:c.3825_3826delinsAC	NP_009228.2:p.Lys1275=
NM_007299.4:c.788-533_788-532delinsAC	NP_009230.2:n.788-533_788-532delinsAC
NM_007300.4:c.3966_3967delinsAC	NP_009231.2:p.Lys1322=
NR_027676.2:n.4143_4144delinsAC