Canonical Allele Identifier: CA913203492

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063930dup , CM000679.2:g.43063930dup	GRCh38
NC_000017.10:g.41215947dup , CM000679.1:g.41215947dup	GRCh37
NC_000017.9:g.38469473dup	NCBI36
NG_005905.2:g.154055dup , LRG_292:g.154055dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5094dup	ENSP00000417241.2:p.Thr1699AspfsTer16
ENST00000470026.6:c.5097dup	ENSP00000419274.2:p.Thr1700AspfsTer16
ENST00000473961.6:c.4971dup	ENSP00000420201.2:p.Thr1658AspfsTer16
ENST00000476777.6:c.5091dup	ENSP00000417554.2:p.Thr1698AspfsTer16
ENST00000477152.6:c.5019dup	ENSP00000419988.2:p.Thr1674AspfsTer16
ENST00000478531.6:c.1785dup	ENSP00000420412.2:p.Thr596AspfsTer16
ENST00000489037.2:c.5019dup	ENSP00000420781.2:p.Thr1674AspfsTer16
ENST00000493919.6:c.1647dup	ENSP00000418819.2:p.Thr550AspfsTer16
ENST00000494123.6:c.5097dup	ENSP00000419103.2:p.Thr1700AspfsTer16
ENST00000497488.2:c.4209dup	ENSP00000418986.2:p.Thr1404AspfsTer16
ENST00000618469.2:c.5097dup	ENSP00000478114.2:p.Thr1700AspfsTer16
ENST00000634433.2:c.4974dup	ENSP00000489431.2:p.Thr1659AspfsTer16
ENST00000644379.2:c.5163dup	ENSP00000496570.2:p.Thr1722AspfsTer16
ENST00000644555.2:c.1647dup	ENSP00000494614.2:p.Thr550AspfsTer16
ENST00000652672.2:c.4956dup	ENSP00000498906.2:p.Thr1653AspfsTer16
ENST00000484087.6:c.1659dup	ENSP00000419481.2:p.Thr554AspfsTer16
ENST00000357654.9:c.5097dup MANE Select	ENSP00000350283.3:p.Thr1700AspfsTer16
ENST00000471181.7:c.5160dup	ENSP00000418960.2:p.Thr1721AspfsTer16
ENST00000644379.1:c.1484dup
ENST00000352993.7:c.1671dup	ENSP00000312236.5:p.Thr558AspfsTer16
ENST00000357654.7:c.5097dup	ENSP00000350283.3:p.Thr1700AspfsTer16
ENST00000461221.5:c.*4880dup	ENSP00000418548.1:n.*4880dup
ENST00000468300.5:c.1785dup	ENSP00000417148.1:p.Thr596AspfsTer16
ENST00000471181.6:c.5160dup	ENSP00000418960.2:p.Thr1721AspfsTer16
ENST00000478531.5:c.1785dup	ENSP00000420412.1:p.Thr596AspfsTer16
ENST00000484087.5:c.1410dup	ENSP00000419481.1:p.Thr471AspfsTer16
ENST00000491747.6:c.1785dup	ENSP00000420705.2:p.Thr596AspfsTer16
ENST00000493795.5:c.4956dup	ENSP00000418775.1:p.Thr1653AspfsTer16
ENST00000493919.5:c.1647dup	ENSP00000418819.1:p.Thr550AspfsTer16
ENST00000586385.5:c.27dup	ENSP00000465818.1:p.Thr10AspfsTer16
ENST00000591534.5:c.570dup	ENSP00000467329.1:p.Thr191AspfsTer16
ENST00000591849.5:c.-98-13739dup	ENSP00000465347.1:n.-98-13739dup
NM_007294.3:c.5097dup , LRG_292t1:c.5097dup	NP_009225.1:p.Thr1700AspfsTer16
NM_007297.3:c.4956dup	NP_009228.2:p.Thr1653AspfsTer16
NM_007298.3:c.1785dup	NP_009229.2:p.Thr596AspfsTer16
NM_007299.3:c.1785dup	NP_009230.2:p.Thr596AspfsTer16
NM_007300.3:c.5160dup	NP_009231.2:p.Thr1721AspfsTer16
NR_027676.1:n.5233dup
NM_007294.4:c.5097dup MANE Select	NP_009225.1:p.Thr1700AspfsTer16
NM_007297.4:c.4956dup	NP_009228.2:p.Thr1653AspfsTer16
NM_007299.4:c.1785dup	NP_009230.2:p.Thr596AspfsTer16
NM_007300.4:c.5160dup	NP_009231.2:p.Thr1721AspfsTer16
NR_027676.2:n.5274dup