Canonical Allele Identifier: CA003443

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051111del , CM000679.2:g.43051111del	GRCh38
NC_000017.10:g.41203128del , CM000679.1:g.41203128del	GRCh37
NC_000017.9:g.38456654del	NCBI36
NG_005905.2:g.166873del , LRG_292:g.166873del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5281del	ENSP00000417241.2:p.Arg1761GlyfsTer3
ENST00000470026.6:c.5284del	ENSP00000419274.2:p.Arg1762GlyfsTer3
ENST00000473961.6:c.5158del	ENSP00000420201.2:p.Arg1720GlyfsTer3
ENST00000476777.6:c.5278del	ENSP00000417554.2:p.Arg1760GlyfsTer3
ENST00000477152.6:c.5206del	ENSP00000419988.2:p.Arg1736GlyfsTer3
ENST00000478531.6:c.1972del	ENSP00000420412.2:p.Arg658GlyfsTer3
ENST00000489037.2:c.5206del	ENSP00000420781.2:p.Arg1736GlyfsTer3
ENST00000493919.6:c.1834del	ENSP00000418819.2:p.Arg612GlyfsTer3
ENST00000494123.6:c.5284del	ENSP00000419103.2:p.Arg1762GlyfsTer3
ENST00000497488.2:c.4396del	ENSP00000418986.2:p.Arg1466GlyfsTer3
ENST00000618469.2:c.5284del	ENSP00000478114.2:p.Arg1762GlyfsTer3
ENST00000634433.2:c.5161del	ENSP00000489431.2:p.Arg1721GlyfsTer3
ENST00000644379.2:c.5350del	ENSP00000496570.2:p.Arg1784GlyfsTer3
ENST00000644555.2:c.1834del	ENSP00000494614.2:p.Arg612GlyfsTer3
ENST00000652672.2:c.5143del	ENSP00000498906.2:p.Arg1715GlyfsTer3
ENST00000484087.6:c.1846del	ENSP00000419481.2:p.Arg616GlyfsTer3
ENST00000357654.9:c.5284del MANE Select	ENSP00000350283.3:p.Arg1762GlyfsTer3
ENST00000471181.7:c.5347del	ENSP00000418960.2:p.Arg1783GlyfsTer3
ENST00000644379.1:c.1671del
ENST00000352993.7:c.1858del	ENSP00000312236.5:p.Arg620GlyfsTer3
ENST00000357654.7:c.5284del	ENSP00000350283.3:p.Arg1762GlyfsTer3
ENST00000461221.5:c.*5067del	ENSP00000418548.1:n.*5067del
ENST00000468300.5:c.1972del	ENSP00000417148.1:p.Arg658GlyfsTer3
ENST00000471181.6:c.5347del	ENSP00000418960.2:p.Arg1783GlyfsTer3
ENST00000491747.6:c.1972del	ENSP00000420705.2:p.Arg658GlyfsTer3
ENST00000493795.5:c.5143del	ENSP00000418775.1:p.Arg1715GlyfsTer3
ENST00000586385.5:c.214del	ENSP00000465818.1:p.Arg72GlyfsTer3
ENST00000591534.5:c.757del	ENSP00000467329.1:p.Arg253GlyfsTer3
ENST00000591849.5:c.-98-921del	ENSP00000465347.1:n.-98-921del
NM_007294.3:c.5284del , LRG_292t1:c.5284del	NP_009225.1:p.Arg1762GlyfsTer3
NM_007297.3:c.5143del	NP_009228.2:p.Arg1715GlyfsTer3
NM_007298.3:c.1972del	NP_009229.2:p.Arg658GlyfsTer3
NM_007299.3:c.1972del	NP_009230.2:p.Arg658GlyfsTer3
NM_007300.3:c.5347del	NP_009231.2:p.Arg1783GlyfsTer3
NR_027676.1:n.5420del
NM_007294.4:c.5284del MANE Select	NP_009225.1:p.Arg1762GlyfsTer3
NM_007297.4:c.5143del	NP_009228.2:p.Arg1715GlyfsTer3
NM_007299.4:c.1972del	NP_009230.2:p.Arg658GlyfsTer3
NM_007300.4:c.5347del	NP_009231.2:p.Arg1783GlyfsTer3
NR_027676.2:n.5461del