Canonical Allele Identifier: CA2260778071

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082550_43082551delinsAG , CM000679.2:g.43082550_43082551delinsAG	GRCh38
NC_000017.10:g.41234567_41234568delinsAG , CM000679.1:g.41234567_41234568delinsAG	GRCh37
NC_000017.9:g.38488093_38488094delinsAG	NCBI36
NG_005905.2:g.135433_135434delinsCT , LRG_292:g.135433_135434delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4210_4211delinsCT	ENSP00000417241.2:p.Leu1404=
ENST00000470026.6:c.4210_4211delinsCT	ENSP00000419274.2:p.Leu1404=
ENST00000473961.6:c.4084_4085delinsCT	ENSP00000420201.2:p.Leu1362=
ENST00000476777.6:c.4204_4205delinsCT	ENSP00000417554.2:p.Leu1402=
ENST00000477152.6:c.4132_4133delinsCT	ENSP00000419988.2:p.Leu1378=
ENST00000478531.6:c.898_899delinsCT	ENSP00000420412.2:p.Leu300=
ENST00000489037.2:c.4132_4133delinsCT	ENSP00000420781.2:p.Leu1378=
ENST00000493919.6:c.760_761delinsCT	ENSP00000418819.2:p.Leu254=
ENST00000494123.6:c.4210_4211delinsCT	ENSP00000419103.2:p.Leu1404=
ENST00000497488.2:c.3322_3323delinsCT	ENSP00000418986.2:p.Leu1108=
ENST00000618469.2:c.4210_4211delinsCT	ENSP00000478114.2:p.Leu1404=
ENST00000634433.2:c.4087_4088delinsCT	ENSP00000489431.2:p.Leu1363=
ENST00000644379.2:c.4210_4211delinsCT	ENSP00000496570.2:p.Leu1404=
ENST00000644555.2:c.760_761delinsCT	ENSP00000494614.2:p.Leu254=
ENST00000652672.2:c.4069_4070delinsCT	ENSP00000498906.2:p.Leu1357=
ENST00000484087.6:c.775_776delinsCT	ENSP00000419481.2:p.Leu259=
ENST00000700182.1:c.820_821delinsCT	ENSP00000514849.1:p.Leu274=
ENST00000357654.9:c.4210_4211delinsCT MANE Select	ENSP00000350283.3:p.Leu1404=
ENST00000471181.7:c.4210_4211delinsCT	ENSP00000418960.2:p.Leu1404=
ENST00000644379.1:c.531_532delinsCT
ENST00000352993.7:c.784_785delinsCT	ENSP00000312236.5:p.Leu262=
ENST00000357654.7:c.4210_4211delinsCT	ENSP00000350283.3:p.Leu1404=
ENST00000461221.5:c.*3993_*3994delinsCT	ENSP00000418548.1:n.*3993_*3994delinsCT
ENST00000461574.1:c.504_505delinsCT
ENST00000468300.5:c.901_902delinsCT	ENSP00000417148.1:p.Leu301=
ENST00000471181.6:c.4210_4211delinsCT	ENSP00000418960.2:p.Leu1404=
ENST00000478531.5:c.898_899delinsCT	ENSP00000420412.1:p.Leu300=
ENST00000484087.5:c.523_524delinsCT	ENSP00000419481.1:p.Leu175=
ENST00000487825.5:c.526_527delinsCT	ENSP00000418212.1:p.Leu176=
ENST00000491747.6:c.901_902delinsCT	ENSP00000420705.2:p.Leu301=
ENST00000493795.5:c.4069_4070delinsCT	ENSP00000418775.1:p.Leu1357=
ENST00000493919.5:c.760_761delinsCT	ENSP00000418819.1:p.Leu254=
ENST00000586385.5:c.5-18600_5-18599delinsCT	ENSP00000465818.1:n.5-18600_5-18599delinsCT
ENST00000591534.5:c.-43-8030_-43-8029delinsCT	ENSP00000467329.1:n.-43-8030_-43-8029delinsCT
ENST00000591849.5:c.-98-32361_-98-32360delinsCT	ENSP00000465347.1:n.-98-32361_-98-32360delinsCT
ENST00000621897.1:n.104_105delinsCT
NM_007294.3:c.4210_4211delinsCT , LRG_292t1:c.4210_4211delinsCT	NP_009225.1:p.Leu1404=
NM_007297.3:c.4069_4070delinsCT	NP_009228.2:p.Leu1357=
NM_007298.3:c.901_902delinsCT	NP_009229.2:p.Leu301=
NM_007299.3:c.901_902delinsCT	NP_009230.2:p.Leu301=
NM_007300.3:c.4210_4211delinsCT	NP_009231.2:p.Leu1404=
NR_027676.1:n.4346_4347delinsCT
NM_007294.4:c.4210_4211delinsCT MANE Select	NP_009225.1:p.Leu1404=
NM_007297.4:c.4069_4070delinsCT	NP_009228.2:p.Leu1357=
NM_007299.4:c.901_902delinsCT	NP_009230.2:p.Leu301=
NM_007300.4:c.4210_4211delinsCT	NP_009231.2:p.Leu1404=
NR_027676.2:n.4387_4388delinsCT