Canonical Allele Identifier: CA2963270655

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063367dup , CM000679.2:g.43063367dup	GRCh38
NC_000017.10:g.41215384dup , CM000679.1:g.41215384dup	GRCh37
NC_000017.9:g.38468910dup	NCBI36
NG_005905.2:g.154619dup , LRG_292:g.154619dup

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5161dup MANE Select	NP_009225.1:p.Gln1721ProfsTer4
ENST00000357654.9:c.5161dup MANE Select	ENSP00000350283.3:p.Gln1721ProfsTer4
NM_007294.3:c.5161dup , LRG_292t1:c.5161dup	NP_009225.1:p.Gln1721ProfsTer4
NM_007297.3:c.5020dup	NP_009228.2:p.Gln1674ProfsTer4
NM_007297.4:c.5020dup	NP_009228.2:p.Gln1674ProfsTer4
NM_007298.3:c.1849dup	NP_009229.2:p.Gln617ProfsTer4
NM_007299.3:c.1849dup	NP_009230.2:p.Gln617ProfsTer4
NM_007299.4:c.1849dup	NP_009230.2:p.Gln617ProfsTer4
NM_007300.3:c.5224dup	NP_009231.2:p.Gln1742ProfsTer4
NM_007300.4:c.5224dup	NP_009231.2:p.Gln1742ProfsTer4
NR_027676.1:n.5297dup
NR_027676.2:n.5338dup
ENST00000352993.7:c.1735dup	ENSP00000312236.5:p.Gln579ProfsTer4
ENST00000357654.7:c.5161dup	ENSP00000350283.3:p.Gln1721ProfsTer4
ENST00000461221.5:c.*4944dup	ENSP00000418548.1:n.*4944dup
ENST00000461574.2:c.5158dup	ENSP00000417241.2:p.Gln1720ProfsTer4
ENST00000468300.5:c.1849dup	ENSP00000417148.1:p.Gln617ProfsTer4
ENST00000470026.6:c.5161dup	ENSP00000419274.2:p.Gln1721ProfsTer4
ENST00000471181.6:c.5224dup	ENSP00000418960.2:p.Gln1742ProfsTer4
ENST00000471181.7:c.5224dup	ENSP00000418960.2:p.Gln1742ProfsTer4
ENST00000473961.6:c.5035dup	ENSP00000420201.2:p.Gln1679ProfsTer4
ENST00000476777.6:c.5155dup	ENSP00000417554.2:p.Gln1719ProfsTer4
ENST00000477152.6:c.5083dup	ENSP00000419988.2:p.Gln1695ProfsTer4
ENST00000478531.5:c.1849dup	ENSP00000420412.1:p.Gln617ProfsTer4
ENST00000478531.6:c.1849dup	ENSP00000420412.2:p.Gln617ProfsTer4
ENST00000484087.5:c.1474dup	ENSP00000419481.1:p.Gln492ProfsTer4
ENST00000484087.6:c.1723dup	ENSP00000419481.2:p.Gln575ProfsTer4
ENST00000489037.2:c.5083dup	ENSP00000420781.2:p.Gln1695ProfsTer4
ENST00000491747.6:c.1849dup	ENSP00000420705.2:p.Gln617ProfsTer4
ENST00000493795.5:c.5020dup	ENSP00000418775.1:p.Gln1674ProfsTer4
ENST00000493919.5:c.1711dup	ENSP00000418819.1:p.Gln571ProfsTer?
ENST00000493919.6:c.1711dup	ENSP00000418819.2:p.Gln571ProfsTer4
ENST00000494123.6:c.5161dup	ENSP00000419103.2:p.Gln1721ProfsTer4
ENST00000497488.2:c.4273dup	ENSP00000418986.2:p.Gln1425ProfsTer4
ENST00000586385.5:c.91dup	ENSP00000465818.1:p.Gln31ProfsTer4
ENST00000591534.5:c.634dup	ENSP00000467329.1:p.Gln212ProfsTer4
ENST00000591849.5:c.-98-13175dup	ENSP00000465347.1:n.-98-13175dup
ENST00000618469.2:c.5161dup	ENSP00000478114.2:p.Gln1721ProfsTer4
ENST00000634433.2:c.5038dup	ENSP00000489431.2:p.Gln1680ProfsTer4
ENST00000644379.1:c.1548dup
ENST00000644379.2:c.5227dup	ENSP00000496570.2:p.Gln1743ProfsTer4
ENST00000644555.2:c.1711dup	ENSP00000494614.2:p.Gln571ProfsTer4
ENST00000652672.2:c.5020dup	ENSP00000498906.2:p.Gln1674ProfsTer4