Canonical Allele Identifier: CA327987
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43057073dup , CM000679.2:g.43057073dup GRCh38
NC_000017.10:g.41209090dup , CM000679.1:g.41209090dup GRCh37
NC_000017.9:g.38462616dup NCBI36
NG_005905.2:g.160912dup , LRG_292:g.160912dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5254dup ENSP00000417241.2:p.Arg1752LysfsTer?
ENST00000470026.6:c.5257dup ENSP00000419274.2:p.Arg1753LysfsTer?
ENST00000473961.6:c.5131dup ENSP00000420201.2:p.Arg1711LysfsTer?
ENST00000476777.6:c.5251dup ENSP00000417554.2:p.Arg1751LysfsTer?
ENST00000477152.6:c.5179dup ENSP00000419988.2:p.Arg1727LysfsTer?
ENST00000478531.6:c.1945dup ENSP00000420412.2:p.Arg649LysfsTer?
ENST00000489037.2:c.5179dup ENSP00000420781.2:p.Arg1727LysfsTer?
ENST00000493919.6:c.1807dup ENSP00000418819.2:p.Arg603LysfsTer?
ENST00000494123.6:c.5257dup ENSP00000419103.2:p.Arg1753LysfsTer?
ENST00000497488.2:c.4369dup ENSP00000418986.2:p.Arg1457LysfsTer?
ENST00000618469.2:c.5257dup ENSP00000478114.2:p.Arg1753LysfsTer?
ENST00000634433.2:c.5134dup ENSP00000489431.2:p.Arg1712LysfsTer?
ENST00000644379.2:c.5323dup ENSP00000496570.2:p.Arg1775LysfsTer?
ENST00000644555.2:c.1807dup ENSP00000494614.2:p.Arg603LysfsTer?
ENST00000652672.2:c.5116dup ENSP00000498906.2:p.Arg1706LysfsTer?
ENST00000484087.6:c.1819dup ENSP00000419481.2:p.Arg607LysfsTer?
ENST00000357654.9:c.5257dup MANE Select ENSP00000350283.3:p.Arg1753LysfsTer?
ENST00000471181.7:c.5320dup ENSP00000418960.2:p.Arg1774LysfsTer?
ENST00000644379.1:c.1644dup
ENST00000352993.7:c.1831dup ENSP00000312236.5:p.Arg611LysfsTer?
ENST00000357654.7:c.5257dup ENSP00000350283.3:p.Arg1753LysfsTer?
ENST00000461221.5:c.*5040dup ENSP00000418548.1:n.*5040dup
ENST00000468300.5:c.1945dup ENSP00000417148.1:p.Arg649LysfsTer?
ENST00000471181.6:c.5320dup ENSP00000418960.2:p.Arg1774LysfsTer?
ENST00000491747.6:c.1945dup ENSP00000420705.2:p.Arg649LysfsTer?
ENST00000493795.5:c.5116dup ENSP00000418775.1:p.Arg1706LysfsTer?
ENST00000586385.5:c.187dup ENSP00000465818.1:p.Arg63LysfsTer?
ENST00000591534.5:c.730dup ENSP00000467329.1:p.Arg244LysfsTer?
ENST00000591849.5:c.-98-6882dup ENSP00000465347.1:n.-98-6882dup
NM_007294.3:c.5257dup , LRG_292t1:c.5257dup NP_009225.1:p.Arg1753LysfsTer?
NM_007297.3:c.5116dup NP_009228.2:p.Arg1706LysfsTer?
NM_007298.3:c.1945dup NP_009229.2:p.Arg649LysfsTer?
NM_007299.3:c.1945dup NP_009230.2:p.Arg649LysfsTer?
NM_007300.3:c.5320dup NP_009231.2:p.Arg1774LysfsTer?
NR_027676.1:n.5393dup
NM_007294.4:c.5257dup MANE Select NP_009225.1:p.Arg1753LysfsTer?
NM_007297.4:c.5116dup NP_009228.2:p.Arg1706LysfsTer?
NM_007299.4:c.1945dup NP_009230.2:p.Arg649LysfsTer?
NM_007300.4:c.5320dup NP_009231.2:p.Arg1774LysfsTer?
NR_027676.2:n.5434dup