Canonical Allele Identifier: CA919844495

Gene: BRCA1

Linked Data

• dbSNP Id: rs1567789708

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091648_43091655dup , CM000679.2:g.43091648_43091655dup	GRCh38
NC_000017.10:g.41243665_41243672dup , CM000679.1:g.41243665_41243672dup	GRCh37
NC_000017.9:g.38497191_38497198dup	NCBI36
NG_005905.2:g.126331_126338dup , LRG_292:g.126331_126338dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3942_3949dup
ENST00000461574.2:c.3878_3885dup	ENSP00000417241.2:p.Phe1296LeufsTer14
ENST00000470026.6:c.3878_3885dup	ENSP00000419274.2:p.Phe1296LeufsTer14
ENST00000473961.6:c.3752_3759dup	ENSP00000420201.2:p.Phe1254LeufsTer14
ENST00000476777.6:c.3875_3882dup	ENSP00000417554.2:p.Phe1295LeufsTer14
ENST00000477152.6:c.3800_3807dup	ENSP00000419988.2:p.Phe1270LeufsTer14
ENST00000478531.6:c.785-621_785-614dup	ENSP00000420412.2:n.785-621_785-614dup
ENST00000489037.2:c.3800_3807dup	ENSP00000420781.2:p.Phe1270LeufsTer14
ENST00000493919.6:c.647-621_647-614dup	ENSP00000418819.2:n.647-621_647-614dup
ENST00000494123.6:c.3878_3885dup	ENSP00000419103.2:p.Phe1296LeufsTer14
ENST00000497488.2:c.2990_2997dup	ENSP00000418986.2:p.Phe1000LeufsTer14
ENST00000618469.2:c.3878_3885dup	ENSP00000478114.2:p.Phe1296LeufsTer14
ENST00000634433.2:c.3755_3762dup	ENSP00000489431.2:p.Phe1255LeufsTer14
ENST00000644379.2:c.3878_3885dup	ENSP00000496570.2:p.Phe1296LeufsTer14
ENST00000644555.2:c.647-621_647-614dup	ENSP00000494614.2:n.647-621_647-614dup
ENST00000652672.2:c.3737_3744dup	ENSP00000498906.2:p.Phe1249LeufsTer14
ENST00000484087.6:c.665-621_665-614dup	ENSP00000419481.2:n.665-621_665-614dup
ENST00000700182.1:c.707-621_707-614dup	ENSP00000514849.1:n.707-621_707-614dup
ENST00000357654.9:c.3878_3885dup MANE Select	ENSP00000350283.3:p.Phe1296LeufsTer14
ENST00000471181.7:c.3878_3885dup	ENSP00000418960.2:p.Phe1296LeufsTer14
ENST00000644379.1:c.199_206dup
ENST00000352993.7:c.671-621_671-614dup	ENSP00000312236.5:n.671-621_671-614dup
ENST00000354071.7:c.3878_3885dup	ENSP00000326002.7:p.Phe1296LeufsTer14
ENST00000357654.7:c.3878_3885dup	ENSP00000350283.3:p.Phe1296LeufsTer14
ENST00000461221.5:c.*3661_*3668dup	ENSP00000418548.1:n.*3661_*3668dup
ENST00000461574.1:c.172_179dup
ENST00000468300.5:c.788-621_788-614dup	ENSP00000417148.1:n.788-621_788-614dup
ENST00000471181.6:c.3878_3885dup	ENSP00000418960.2:p.Phe1296LeufsTer14
ENST00000478531.5:c.785-621_785-614dup	ENSP00000420412.1:n.785-621_785-614dup
ENST00000484087.5:c.410-621_410-614dup	ENSP00000419481.1:n.410-621_410-614dup
ENST00000487825.5:c.413-621_413-614dup	ENSP00000418212.1:n.413-621_413-614dup
ENST00000491747.6:c.788-621_788-614dup	ENSP00000420705.2:n.788-621_788-614dup
ENST00000493795.5:c.3737_3744dup	ENSP00000418775.1:p.Phe1249LeufsTer14
ENST00000493919.5:c.647-621_647-614dup	ENSP00000418819.1:n.647-621_647-614dup
ENST00000586385.5:c.5-27702_5-27695dup	ENSP00000465818.1:n.5-27702_5-27695dup
ENST00000591534.5:c.-43-17132_-43-17125dup	ENSP00000467329.1:n.-43-17132_-43-17125du...
ENST00000591849.5:c.-99+33618_-99+33625dup	ENSP00000465347.1:n.-99+33618_-99+33625du...
NM_007294.3:c.3878_3885dup , LRG_292t1:c.3878_3885dup	NP_009225.1:p.Phe1296LeufsTer14
NM_007297.3:c.3737_3744dup	NP_009228.2:p.Phe1249LeufsTer14
NM_007298.3:c.788-621_788-614dup	NP_009229.2:n.788-621_788-614dup
NM_007299.3:c.788-621_788-614dup	NP_009230.2:n.788-621_788-614dup
NM_007300.3:c.3878_3885dup	NP_009231.2:p.Phe1296LeufsTer14
NR_027676.1:n.4014_4021dup
NM_007294.4:c.3878_3885dup MANE Select	NP_009225.1:p.Phe1296LeufsTer14
NM_007297.4:c.3737_3744dup	NP_009228.2:p.Phe1249LeufsTer14
NM_007299.4:c.788-621_788-614dup	NP_009230.2:n.788-621_788-614dup
NM_007300.4:c.3878_3885dup	NP_009231.2:p.Phe1296LeufsTer14
NR_027676.2:n.4055_4062dup