Canonical Allele Identifier: CA2260778006

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082475_43082477delinsTAG , CM000679.2:g.43082475_43082477delinsTAG	GRCh38
NC_000017.10:g.41234492_41234494delinsTAG , CM000679.1:g.41234492_41234494delinsTAG	GRCh37
NC_000017.9:g.38488018_38488020delinsTAG	NCBI36
NG_005905.2:g.135507_135509delinsCTA , LRG_292:g.135507_135509delinsCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4284_4286delinsCTA	ENSP00000417241.2:p.Ser1428=
ENST00000470026.6:c.4284_4286delinsCTA	ENSP00000419274.2:p.Ser1428=
ENST00000473961.6:c.4158_4160delinsCTA	ENSP00000420201.2:p.Ser1386=
ENST00000476777.6:c.4278_4280delinsCTA	ENSP00000417554.2:p.Ser1426=
ENST00000477152.6:c.4206_4208delinsCTA	ENSP00000419988.2:p.Ser1402=
ENST00000478531.6:c.972_974delinsCTA	ENSP00000420412.2:p.Ser324=
ENST00000489037.2:c.4206_4208delinsCTA	ENSP00000420781.2:p.Ser1402=
ENST00000493919.6:c.834_836delinsCTA	ENSP00000418819.2:p.Ser278=
ENST00000494123.6:c.4284_4286delinsCTA	ENSP00000419103.2:p.Ser1428=
ENST00000497488.2:c.3396_3398delinsCTA	ENSP00000418986.2:p.Ser1132=
ENST00000618469.2:c.4284_4286delinsCTA	ENSP00000478114.2:p.Ser1428=
ENST00000634433.2:c.4161_4163delinsCTA	ENSP00000489431.2:p.Ser1387=
ENST00000644379.2:c.4284_4286delinsCTA	ENSP00000496570.2:p.Ser1428=
ENST00000644555.2:c.834_836delinsCTA	ENSP00000494614.2:p.Ser278=
ENST00000652672.2:c.4143_4145delinsCTA	ENSP00000498906.2:p.Ser1381=
ENST00000484087.6:c.849_851delinsCTA	ENSP00000419481.2:p.Ser283=
ENST00000700182.1:c.894_896delinsCTA	ENSP00000514849.1:p.Ser298=
ENST00000357654.9:c.4284_4286delinsCTA MANE Select	ENSP00000350283.3:p.Ser1428=
ENST00000471181.7:c.4284_4286delinsCTA	ENSP00000418960.2:p.Ser1428=
ENST00000644379.1:c.605_607delinsCTA
ENST00000352993.7:c.858_860delinsCTA	ENSP00000312236.5:p.Ser286=
ENST00000357654.7:c.4284_4286delinsCTA	ENSP00000350283.3:p.Ser1428=
ENST00000461221.5:c.*4067_*4069delinsCTA	ENSP00000418548.1:n.*4067_*4069delinsCTA
ENST00000461574.1:c.578_580delinsCTA
ENST00000468300.5:c.975_977delinsCTA	ENSP00000417148.1:p.Ser325=
ENST00000471181.6:c.4284_4286delinsCTA	ENSP00000418960.2:p.Ser1428=
ENST00000478531.5:c.972_974delinsCTA	ENSP00000420412.1:p.Ser324=
ENST00000484087.5:c.597_599delinsCTA	ENSP00000419481.1:p.Ser199=
ENST00000487825.5:c.600_602delinsCTA	ENSP00000418212.1:p.Ser200=
ENST00000491747.6:c.975_977delinsCTA	ENSP00000420705.2:p.Ser325=
ENST00000493795.5:c.4143_4145delinsCTA	ENSP00000418775.1:p.Ser1381=
ENST00000493919.5:c.834_836delinsCTA	ENSP00000418819.1:p.Ser278=
ENST00000586385.5:c.5-18526_5-18524delinsCTA	ENSP00000465818.1:n.5-18526_5-18524delinsCTA
ENST00000591534.5:c.-43-7956_-43-7954delinsCTA	ENSP00000467329.1:n.-43-7956_-43-7954delinsCTA
ENST00000591849.5:c.-98-32287_-98-32285delinsCTA	ENSP00000465347.1:n.-98-32287_-98-32285delinsCTA
ENST00000621897.1:n.178_180delinsCTA
NM_007294.3:c.4284_4286delinsCTA , LRG_292t1:c.4284_4286delinsCTA	NP_009225.1:p.Ser1428=
NM_007297.3:c.4143_4145delinsCTA	NP_009228.2:p.Ser1381=
NM_007298.3:c.975_977delinsCTA	NP_009229.2:p.Ser325=
NM_007299.3:c.975_977delinsCTA	NP_009230.2:p.Ser325=
NM_007300.3:c.4284_4286delinsCTA	NP_009231.2:p.Ser1428=
NR_027676.1:n.4420_4422delinsCTA
NM_007294.4:c.4284_4286delinsCTA MANE Select	NP_009225.1:p.Ser1428=
NM_007297.4:c.4143_4145delinsCTA	NP_009228.2:p.Ser1381=
NM_007299.4:c.975_977delinsCTA	NP_009230.2:p.Ser325=
NM_007300.4:c.4284_4286delinsCTA	NP_009231.2:p.Ser1428=
NR_027676.2:n.4461_4463delinsCTA