Canonical Allele Identifier: CA2499224460

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091951_43091954dup , CM000679.2:g.43091951_43091954dup	GRCh38
NC_000017.10:g.41243968_41243971dup , CM000679.1:g.41243968_41243971dup	GRCh37
NC_000017.9:g.38497494_38497497dup	NCBI36
NG_005905.2:g.126030_126033dup , LRG_292:g.126030_126033dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3641_3644dup
ENST00000461574.2:c.3577_3580dup	ENSP00000417241.2:p.Thr1194IlefsTer26
ENST00000470026.6:c.3577_3580dup	ENSP00000419274.2:p.Thr1194IlefsTer26
ENST00000473961.6:c.3451_3454dup	ENSP00000420201.2:p.Thr1152IlefsTer26
ENST00000476777.6:c.3574_3577dup	ENSP00000417554.2:p.Thr1193IlefsTer26
ENST00000477152.6:c.3499_3502dup	ENSP00000419988.2:p.Thr1168IlefsTer26
ENST00000478531.6:c.785-922_785-919dup	ENSP00000420412.2:n.785-922_785-919dup
ENST00000489037.2:c.3499_3502dup	ENSP00000420781.2:p.Thr1168IlefsTer26
ENST00000493919.6:c.647-922_647-919dup	ENSP00000418819.2:n.647-922_647-919dup
ENST00000494123.6:c.3577_3580dup	ENSP00000419103.2:p.Thr1194IlefsTer26
ENST00000497488.2:c.2689_2692dup	ENSP00000418986.2:p.Thr898IlefsTer26
ENST00000618469.2:c.3577_3580dup	ENSP00000478114.2:p.Thr1194IlefsTer26
ENST00000634433.2:c.3454_3457dup	ENSP00000489431.2:p.Thr1153IlefsTer26
ENST00000644379.2:c.3577_3580dup	ENSP00000496570.2:p.Thr1194IlefsTer26
ENST00000644555.2:c.647-922_647-919dup	ENSP00000494614.2:n.647-922_647-919dup
ENST00000652672.2:c.3436_3439dup	ENSP00000498906.2:p.Thr1147IlefsTer26
ENST00000484087.6:c.665-922_665-919dup	ENSP00000419481.2:n.665-922_665-919dup
ENST00000700182.1:c.707-922_707-919dup	ENSP00000514849.1:n.707-922_707-919dup
ENST00000357654.9:c.3577_3580dup MANE Select	ENSP00000350283.3:p.Thr1194IlefsTer26
ENST00000471181.7:c.3577_3580dup	ENSP00000418960.2:p.Thr1194IlefsTer26
ENST00000352993.7:c.671-922_671-919dup	ENSP00000312236.5:n.671-922_671-919dup
ENST00000354071.7:c.3577_3580dup	ENSP00000326002.7:p.Thr1194IlefsTer26
ENST00000357654.7:c.3577_3580dup	ENSP00000350283.3:p.Thr1194IlefsTer26
ENST00000461221.5:c.*3360_*3363dup	ENSP00000418548.1:n.*3360_*3363dup
ENST00000468300.5:c.788-922_788-919dup	ENSP00000417148.1:n.788-922_788-919dup
ENST00000471181.6:c.3577_3580dup	ENSP00000418960.2:p.Thr1194IlefsTer26
ENST00000478531.5:c.785-922_785-919dup	ENSP00000420412.1:n.785-922_785-919dup
ENST00000484087.5:c.410-922_410-919dup	ENSP00000419481.1:n.410-922_410-919dup
ENST00000487825.5:c.413-922_413-919dup	ENSP00000418212.1:n.413-922_413-919dup
ENST00000491747.6:c.788-922_788-919dup	ENSP00000420705.2:n.788-922_788-919dup
ENST00000493795.5:c.3436_3439dup	ENSP00000418775.1:p.Thr1147IlefsTer26
ENST00000493919.5:c.647-922_647-919dup	ENSP00000418819.1:n.647-922_647-919dup
ENST00000586385.5:c.5-28003_5-28000dup	ENSP00000465818.1:n.5-28003_5-28000dup
ENST00000591534.5:c.-43-17433_-43-17430dup	ENSP00000467329.1:n.-43-17433_-43-17430dup
ENST00000591849.5:c.-99+33317_-99+33320dup	ENSP00000465347.1:n.-99+33317_-99+33320dup
NM_007294.3:c.3577_3580dup , LRG_292t1:c.3577_3580dup	NP_009225.1:p.Thr1194IlefsTer26
NM_007297.3:c.3436_3439dup	NP_009228.2:p.Thr1147IlefsTer26
NM_007298.3:c.788-922_788-919dup	NP_009229.2:n.788-922_788-919dup
NM_007299.3:c.788-922_788-919dup	NP_009230.2:n.788-922_788-919dup
NM_007300.3:c.3577_3580dup	NP_009231.2:p.Thr1194IlefsTer26
NR_027676.1:n.3713_3716dup
NM_007294.4:c.3577_3580dup MANE Select	NP_009225.1:p.Thr1194IlefsTer26
NM_007297.4:c.3436_3439dup	NP_009228.2:p.Thr1147IlefsTer26
NM_007299.4:c.788-922_788-919dup	NP_009230.2:n.788-922_788-919dup
NM_007300.4:c.3577_3580dup	NP_009231.2:p.Thr1194IlefsTer26
NR_027676.2:n.3754_3757dup