Canonical Allele Identifier: CA2260782136

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091658_43091659delinsAC , CM000679.2:g.43091658_43091659delinsAC	GRCh38
NC_000017.10:g.41243675_41243676delinsAC , CM000679.1:g.41243675_41243676delinsAC	GRCh37
NC_000017.9:g.38497201_38497202delinsAC	NCBI36
NG_005905.2:g.126325_126326delinsGT , LRG_292:g.126325_126326delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3936_3937delinsGT
ENST00000461574.2:c.3872_3873delinsGT	ENSP00000417241.2:p.Cys1291=
ENST00000470026.6:c.3872_3873delinsGT	ENSP00000419274.2:p.Cys1291=
ENST00000473961.6:c.3746_3747delinsGT	ENSP00000420201.2:p.Cys1249=
ENST00000476777.6:c.3869_3870delinsGT	ENSP00000417554.2:p.Cys1290=
ENST00000477152.6:c.3794_3795delinsGT	ENSP00000419988.2:p.Cys1265=
ENST00000478531.6:c.785-627_785-626delinsGT	ENSP00000420412.2:n.785-627_785-626delinsGT
ENST00000489037.2:c.3794_3795delinsGT	ENSP00000420781.2:p.Cys1265=
ENST00000493919.6:c.647-627_647-626delinsGT	ENSP00000418819.2:n.647-627_647-626delinsGT
ENST00000494123.6:c.3872_3873delinsGT	ENSP00000419103.2:p.Cys1291=
ENST00000497488.2:c.2984_2985delinsGT	ENSP00000418986.2:p.Cys995=
ENST00000618469.2:c.3872_3873delinsGT	ENSP00000478114.2:p.Cys1291=
ENST00000634433.2:c.3749_3750delinsGT	ENSP00000489431.2:p.Cys1250=
ENST00000644379.2:c.3872_3873delinsGT	ENSP00000496570.2:p.Cys1291=
ENST00000644555.2:c.647-627_647-626delinsGT	ENSP00000494614.2:n.647-627_647-626delinsGT
ENST00000652672.2:c.3731_3732delinsGT	ENSP00000498906.2:p.Cys1244=
ENST00000484087.6:c.665-627_665-626delinsGT	ENSP00000419481.2:n.665-627_665-626delinsGT
ENST00000700182.1:c.707-627_707-626delinsGT	ENSP00000514849.1:n.707-627_707-626delinsGT
ENST00000357654.9:c.3872_3873delinsGT MANE Select	ENSP00000350283.3:p.Cys1291=
ENST00000471181.7:c.3872_3873delinsGT	ENSP00000418960.2:p.Cys1291=
ENST00000644379.1:c.193_194delinsGT
ENST00000352993.7:c.671-627_671-626delinsGT	ENSP00000312236.5:n.671-627_671-626delinsGT
ENST00000354071.7:c.3872_3873delinsGT	ENSP00000326002.7:p.Cys1291=
ENST00000357654.7:c.3872_3873delinsGT	ENSP00000350283.3:p.Cys1291=
ENST00000461221.5:c.*3655_*3656delinsGT	ENSP00000418548.1:n.*3655_*3656delinsGT
ENST00000461574.1:c.166_167delinsGT
ENST00000468300.5:c.788-627_788-626delinsGT	ENSP00000417148.1:n.788-627_788-626delinsGT
ENST00000471181.6:c.3872_3873delinsGT	ENSP00000418960.2:p.Cys1291=
ENST00000478531.5:c.785-627_785-626delinsGT	ENSP00000420412.1:n.785-627_785-626delinsGT
ENST00000484087.5:c.410-627_410-626delinsGT	ENSP00000419481.1:n.410-627_410-626delinsGT
ENST00000487825.5:c.413-627_413-626delinsGT	ENSP00000418212.1:n.413-627_413-626delinsGT
ENST00000491747.6:c.788-627_788-626delinsGT	ENSP00000420705.2:n.788-627_788-626delinsGT
ENST00000493795.5:c.3731_3732delinsGT	ENSP00000418775.1:p.Cys1244=
ENST00000493919.5:c.647-627_647-626delinsGT	ENSP00000418819.1:n.647-627_647-626delinsGT
ENST00000586385.5:c.5-27708_5-27707delinsGT	ENSP00000465818.1:n.5-27708_5-27707delinsGT
ENST00000591534.5:c.-43-17138_-43-17137delinsGT	ENSP00000467329.1:n.-43-17138_-43-17137delinsGT
ENST00000591849.5:c.-99+33612_-99+33613delinsGT	ENSP00000465347.1:n.-99+33612_-99+33613delinsGT
NM_007294.3:c.3872_3873delinsGT , LRG_292t1:c.3872_3873delinsGT	NP_009225.1:p.Cys1291=
NM_007297.3:c.3731_3732delinsGT	NP_009228.2:p.Cys1244=
NM_007298.3:c.788-627_788-626delinsGT	NP_009229.2:n.788-627_788-626delinsGT
NM_007299.3:c.788-627_788-626delinsGT	NP_009230.2:n.788-627_788-626delinsGT
NM_007300.3:c.3872_3873delinsGT	NP_009231.2:p.Cys1291=
NR_027676.1:n.4008_4009delinsGT
NM_007294.4:c.3872_3873delinsGT MANE Select	NP_009225.1:p.Cys1291=
NM_007297.4:c.3731_3732delinsGT	NP_009228.2:p.Cys1244=
NM_007299.4:c.788-627_788-626delinsGT	NP_009230.2:n.788-627_788-626delinsGT
NM_007300.4:c.3872_3873delinsGT	NP_009231.2:p.Cys1291=
NR_027676.2:n.4049_4050delinsGT