Canonical Allele Identifier: CA1139770417

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067609dup , CM000679.2:g.43067609dup	GRCh38
NC_000017.10:g.41219626dup , CM000679.1:g.41219626dup	GRCh37
NC_000017.9:g.38473152dup	NCBI36
NG_005905.2:g.150375dup , LRG_292:g.150375dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5070dup	ENSP00000417241.2:p.Asp1691ArgfsTer3
ENST00000470026.6:c.5073dup	ENSP00000419274.2:p.Asp1692ArgfsTer3
ENST00000473961.6:c.4947dup	ENSP00000420201.2:p.Asp1650ArgfsTer3
ENST00000476777.6:c.5067dup	ENSP00000417554.2:p.Asp1690ArgfsTer3
ENST00000477152.6:c.4995dup	ENSP00000419988.2:p.Asp1666ArgfsTer3
ENST00000478531.6:c.1761dup	ENSP00000420412.2:p.Asp588ArgfsTer3
ENST00000489037.2:c.4995dup	ENSP00000420781.2:p.Asp1666ArgfsTer3
ENST00000493919.6:c.1623dup	ENSP00000418819.2:p.Asp542ArgfsTer3
ENST00000494123.6:c.5073dup	ENSP00000419103.2:p.Asp1692ArgfsTer3
ENST00000497488.2:c.4185dup	ENSP00000418986.2:p.Asp1396ArgfsTer3
ENST00000618469.2:c.5073dup	ENSP00000478114.2:p.Asp1692ArgfsTer3
ENST00000634433.2:c.4950dup	ENSP00000489431.2:p.Asp1651ArgfsTer3
ENST00000644379.2:c.5139dup	ENSP00000496570.2:p.Asp1714ArgfsTer3
ENST00000644555.2:c.1623dup	ENSP00000494614.2:p.Asp542ArgfsTer3
ENST00000652672.2:c.4932dup	ENSP00000498906.2:p.Asp1645ArgfsTer3
ENST00000484087.6:c.1635dup	ENSP00000419481.2:p.Asp546ArgfsTer3
ENST00000357654.9:c.5073dup MANE Select	ENSP00000350283.3:p.Asp1692ArgfsTer3
ENST00000471181.7:c.5136dup	ENSP00000418960.2:p.Asp1713ArgfsTer3
ENST00000644379.1:c.1460dup
ENST00000352993.7:c.1647dup	ENSP00000312236.5:p.Asp550ArgfsTer3
ENST00000357654.7:c.5073dup	ENSP00000350283.3:p.Asp1692ArgfsTer3
ENST00000461221.5:c.*4856dup	ENSP00000418548.1:n.*4856dup
ENST00000468300.5:c.1761dup	ENSP00000417148.1:p.Asp588ArgfsTer3
ENST00000471181.6:c.5136dup	ENSP00000418960.2:p.Asp1713ArgfsTer3
ENST00000472490.1:n.226dup
ENST00000478531.5:c.1761dup	ENSP00000420412.1:p.Asp588ArgfsTer3
ENST00000484087.5:c.1386dup	ENSP00000419481.1:p.Asp463ArgfsTer3
ENST00000491747.6:c.1761dup	ENSP00000420705.2:p.Asp588ArgfsTer3
ENST00000493795.5:c.4932dup	ENSP00000418775.1:p.Asp1645ArgfsTer3
ENST00000493919.5:c.1623dup	ENSP00000418819.1:p.Asp542ArgfsTer3
ENST00000586385.5:c.5-3658dup	ENSP00000465818.1:n.5-3658dup
ENST00000591534.5:c.546dup	ENSP00000467329.1:p.Asp183ArgfsTer3
ENST00000591849.5:c.-98-17419dup	ENSP00000465347.1:n.-98-17419dup
NM_007294.3:c.5073dup , LRG_292t1:c.5073dup	NP_009225.1:p.Asp1692ArgfsTer3
NM_007297.3:c.4932dup	NP_009228.2:p.Asp1645ArgfsTer3
NM_007298.3:c.1761dup	NP_009229.2:p.Asp588ArgfsTer3
NM_007299.3:c.1761dup	NP_009230.2:p.Asp588ArgfsTer3
NM_007300.3:c.5136dup	NP_009231.2:p.Asp1713ArgfsTer3
NR_027676.1:n.5209dup
NM_007294.4:c.5073dup MANE Select	NP_009225.1:p.Asp1692ArgfsTer3
NM_007297.4:c.4932dup	NP_009228.2:p.Asp1645ArgfsTer3
NM_007299.4:c.1761dup	NP_009230.2:p.Asp588ArgfsTer3
NM_007300.4:c.5136dup	NP_009231.2:p.Asp1713ArgfsTer3
NR_027676.2:n.5250dup