Canonical Allele Identifier: CA2580618106

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093881_43094860dup , CM000679.2:g.43093881_43094860dup	GRCh38
NC_000017.10:g.41245898_41246877dup , CM000679.1:g.41245898_41246877dup	GRCh37
NC_000017.9:g.38499424_38500403dup	NCBI36
NG_005905.2:g.123124_124103dup , LRG_292:g.123124_124103dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.735_1714dup
ENST00000461574.2:c.671_1650dup	ENSP00000417241.2:p.Ser551LeufsTer10
ENST00000470026.6:c.671_1650dup	ENSP00000419274.2:p.Ser551LeufsTer10
ENST00000473961.6:c.545_1524dup	ENSP00000420201.2:p.Ser509LeufsTer10
ENST00000476777.6:c.668_1647dup	ENSP00000417554.2:p.Ser550LeufsTer10
ENST00000477152.6:c.593_1572dup	ENSP00000419988.2:p.Ser525LeufsTer10
ENST00000478531.6:c.668_784+863dup
ENST00000489037.2:c.593_1572dup	ENSP00000420781.2:p.Ser525LeufsTer10
ENST00000493919.6:c.530_646+863dup
ENST00000494123.6:c.671_1650dup	ENSP00000419103.2:p.Ser551LeufsTer10
ENST00000497488.2:c.-218_762dup	ENSP00000418986.2:p.Ser255LeufsTer10
ENST00000618469.2:c.671_1650dup	ENSP00000478114.2:p.Ser551LeufsTer10
ENST00000634433.2:c.548_1527dup	ENSP00000489431.2:p.Ser510LeufsTer10
ENST00000644379.2:c.671_1650dup	ENSP00000496570.2:p.Ser551LeufsTer10
ENST00000644555.2:c.530_646+863dup
ENST00000652672.2:c.530_1509dup	ENSP00000498906.2:p.Ser504LeufsTer10
ENST00000484087.6:c.548_664+863dup
ENST00000700182.1:c.590_706+863dup
ENST00000357654.9:c.671_1650dup MANE Select	ENSP00000350283.3:p.Ser551LeufsTer10
ENST00000471181.7:c.671_1650dup	ENSP00000418960.2:p.Ser551LeufsTer10
ENST00000652672.1:c.530_1509dup	ENSP00000498906.1:p.Ser504LeufsTer10
ENST00000352993.7:c.670+986_670+1965dup	ENSP00000312236.5:n.670+986_670+1965dup
ENST00000354071.7:c.671_1650dup	ENSP00000326002.7:p.Ser551LeufsTer10
ENST00000357654.7:c.671_1650dup	ENSP00000350283.3:p.Ser551LeufsTer10
ENST00000412061.3:c.22_1001dup
ENST00000461221.5:c.*454_*1433dup	ENSP00000418548.1:n.*454_*1433dup
ENST00000468300.5:c.671_787+863dup
ENST00000470026.5:c.671_1650dup	ENSP00000419274.1:p.Ser551LeufsTer10
ENST00000471181.6:c.671_1650dup	ENSP00000418960.2:p.Ser551LeufsTer10
ENST00000477152.5:c.593_1572dup	ENSP00000419988.1:p.Ser525LeufsTer10
ENST00000478531.5:c.668_784+863dup
ENST00000484087.5:c.293_409+863dup
ENST00000487825.5:c.296_412+863dup
ENST00000491747.6:c.671_787+863dup
ENST00000493795.5:c.530_1509dup	ENSP00000418775.1:p.Ser504LeufsTer10
ENST00000493919.5:c.530_646+863dup
ENST00000586385.5:c.4+30322_5-29930dup	ENSP00000465818.1:n.4+30322_5-29930dup
ENST00000591534.5:c.-43-20339_-43-19360dup	ENSP00000467329.1:n.-43-20339_-43-19360du...
ENST00000591849.5:c.-99+30411_-99+31390dup	ENSP00000465347.1:n.-99+30411_-99+31390du...
ENST00000634433.1:c.548_1527dup	ENSP00000489431.1:p.Ser510LeufsTer10
NM_007294.3:c.671_1650dup , LRG_292t1:c.671_1650dup	NP_009225.1:p.Ser551LeufsTer10
NM_007297.3:c.530_1509dup	NP_009228.2:p.Ser504LeufsTer10
NM_007298.3:c.671_787+863dup
NM_007299.3:c.671_787+863dup
NM_007300.3:c.671_1650dup	NP_009231.2:p.Ser551LeufsTer10
NR_027676.1:n.807_1786dup
NM_007294.4:c.671_1650dup MANE Select	NP_009225.1:p.Ser551LeufsTer10
NM_007297.4:c.530_1509dup	NP_009228.2:p.Ser504LeufsTer10
NM_007299.4:c.671_787+863dup
NM_007300.4:c.671_1650dup	NP_009231.2:p.Ser551LeufsTer10
NR_027676.2:n.848_1827dup