Canonical Allele Identifier: CA2695195948

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070980dup , CM000679.2:g.43070980dup	GRCh38
NC_000017.10:g.41222997dup , CM000679.1:g.41222997dup	GRCh37
NC_000017.9:g.38476523dup	NCBI36
NG_005905.2:g.147006dup , LRG_292:g.147006dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4933dup	ENSP00000417241.2:p.Val1645GlyfsTer?
ENST00000470026.6:c.4936dup	ENSP00000419274.2:p.Val1646GlyfsTer?
ENST00000473961.6:c.4810dup	ENSP00000420201.2:p.Val1604GlyfsTer?
ENST00000476777.6:c.4930dup	ENSP00000417554.2:p.Val1644GlyfsTer?
ENST00000477152.6:c.4858dup	ENSP00000419988.2:p.Val1620GlyfsTer?
ENST00000478531.6:c.1624dup	ENSP00000420412.2:p.Val542GlyfsTer?
ENST00000489037.2:c.4858dup	ENSP00000420781.2:p.Val1620GlyfsTer?
ENST00000493919.6:c.1486dup	ENSP00000418819.2:p.Val496GlyfsTer?
ENST00000494123.6:c.4936dup	ENSP00000419103.2:p.Val1646GlyfsTer?
ENST00000497488.2:c.4048dup	ENSP00000418986.2:p.Val1350GlyfsTer?
ENST00000618469.2:c.4936dup	ENSP00000478114.2:p.Val1646GlyfsTer?
ENST00000634433.2:c.4813dup	ENSP00000489431.2:p.Val1605GlyfsTer?
ENST00000644379.2:c.5002dup	ENSP00000496570.2:p.Val1668GlyfsTer?
ENST00000644555.2:c.1486dup	ENSP00000494614.2:p.Val496GlyfsTer?
ENST00000652672.2:c.4795dup	ENSP00000498906.2:p.Val1599GlyfsTer?
ENST00000484087.6:c.1498dup	ENSP00000419481.2:p.Val500GlyfsTer?
ENST00000700182.1:c.1543dup	ENSP00000514849.1:p.Val515GlyfsTer29
ENST00000357654.9:c.4936dup MANE Select	ENSP00000350283.3:p.Val1646GlyfsTer?
ENST00000471181.7:c.4999dup	ENSP00000418960.2:p.Val1667GlyfsTer?
ENST00000644379.1:c.1323dup
ENST00000352993.7:c.1510dup	ENSP00000312236.5:p.Val504GlyfsTer?
ENST00000357654.7:c.4936dup	ENSP00000350283.3:p.Val1646GlyfsTer?
ENST00000461221.5:c.*4719dup	ENSP00000418548.1:n.*4719dup
ENST00000468300.5:c.1624dup	ENSP00000417148.1:p.Val542GlyfsTer?
ENST00000471181.6:c.4999dup	ENSP00000418960.2:p.Val1667GlyfsTer?
ENST00000472490.1:n.89dup
ENST00000478531.5:c.1624dup	ENSP00000420412.1:p.Val542GlyfsTer?
ENST00000484087.5:c.1249dup	ENSP00000419481.1:p.Val417GlyfsTer?
ENST00000491747.6:c.1624dup	ENSP00000420705.2:p.Val542GlyfsTer?
ENST00000493795.5:c.4795dup	ENSP00000418775.1:p.Val1599GlyfsTer?
ENST00000493919.5:c.1486dup	ENSP00000418819.1:p.Val496GlyfsTer?
ENST00000586385.5:c.5-7027dup	ENSP00000465818.1:n.5-7027dup
ENST00000591534.5:c.409dup	ENSP00000467329.1:p.Val137GlyfsTer?
ENST00000591849.5:c.-98-20788dup	ENSP00000465347.1:n.-98-20788dup
NM_007294.3:c.4936dup , LRG_292t1:c.4936dup	NP_009225.1:p.Val1646GlyfsTer?
NM_007297.3:c.4795dup	NP_009228.2:p.Val1599GlyfsTer?
NM_007298.3:c.1624dup	NP_009229.2:p.Val542GlyfsTer?
NM_007299.3:c.1624dup	NP_009230.2:p.Val542GlyfsTer?
NM_007300.3:c.4999dup	NP_009231.2:p.Val1667GlyfsTer?
NR_027676.1:n.5072dup
NM_007294.4:c.4936dup MANE Select	NP_009225.1:p.Val1646GlyfsTer?
NM_007297.4:c.4795dup	NP_009228.2:p.Val1599GlyfsTer?
NM_007299.4:c.1624dup	NP_009230.2:p.Val542GlyfsTer?
NM_007300.4:c.4999dup	NP_009231.2:p.Val1667GlyfsTer?
NR_027676.2:n.5113dup