Canonical Allele Identifier: CA2499224427

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082530_43082532delinsCC , CM000679.2:g.43082530_43082532delinsCC	GRCh38
NC_000017.10:g.41234547_41234549delinsCC , CM000679.1:g.41234547_41234549delinsCC	GRCh37
NC_000017.9:g.38488073_38488075delinsCC	NCBI36
NG_005905.2:g.135452_135454delinsGG , LRG_292:g.135452_135454delinsGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4229_4231delinsGG	ENSP00000417241.2:p.Glu1410GlyfsTer5
ENST00000470026.6:c.4229_4231delinsGG	ENSP00000419274.2:p.Glu1410GlyfsTer5
ENST00000473961.6:c.4103_4105delinsGG	ENSP00000420201.2:p.Glu1368GlyfsTer5
ENST00000476777.6:c.4223_4225delinsGG	ENSP00000417554.2:p.Glu1408GlyfsTer5
ENST00000477152.6:c.4151_4153delinsGG	ENSP00000419988.2:p.Glu1384GlyfsTer5
ENST00000478531.6:c.917_919delinsGG	ENSP00000420412.2:p.Glu306GlyfsTer5
ENST00000489037.2:c.4151_4153delinsGG	ENSP00000420781.2:p.Glu1384GlyfsTer5
ENST00000493919.6:c.779_781delinsGG	ENSP00000418819.2:p.Glu260GlyfsTer5
ENST00000494123.6:c.4229_4231delinsGG	ENSP00000419103.2:p.Glu1410GlyfsTer5
ENST00000497488.2:c.3341_3343delinsGG	ENSP00000418986.2:p.Glu1114GlyfsTer5
ENST00000618469.2:c.4229_4231delinsGG	ENSP00000478114.2:p.Glu1410GlyfsTer5
ENST00000634433.2:c.4106_4108delinsGG	ENSP00000489431.2:p.Glu1369GlyfsTer5
ENST00000644379.2:c.4229_4231delinsGG	ENSP00000496570.2:p.Glu1410GlyfsTer5
ENST00000644555.2:c.779_781delinsGG	ENSP00000494614.2:p.Glu260GlyfsTer5
ENST00000652672.2:c.4088_4090delinsGG	ENSP00000498906.2:p.Glu1363GlyfsTer5
ENST00000484087.6:c.794_796delinsGG	ENSP00000419481.2:p.Glu265GlyfsTer5
ENST00000700182.1:c.839_841delinsGG	ENSP00000514849.1:p.Glu280GlyfsTer5
ENST00000357654.9:c.4229_4231delinsGG MANE Select	ENSP00000350283.3:p.Glu1410GlyfsTer5
ENST00000471181.7:c.4229_4231delinsGG	ENSP00000418960.2:p.Glu1410GlyfsTer5
ENST00000644379.1:c.550_552delinsGG
ENST00000352993.7:c.803_805delinsGG	ENSP00000312236.5:p.Glu268GlyfsTer5
ENST00000357654.7:c.4229_4231delinsGG	ENSP00000350283.3:p.Glu1410GlyfsTer5
ENST00000461221.5:c.*4012_*4014delinsGG	ENSP00000418548.1:n.*4012_*4014delinsGG
ENST00000461574.1:c.523_525delinsGG
ENST00000468300.5:c.920_922delinsGG	ENSP00000417148.1:p.Glu307GlyfsTer5
ENST00000471181.6:c.4229_4231delinsGG	ENSP00000418960.2:p.Glu1410GlyfsTer5
ENST00000478531.5:c.917_919delinsGG	ENSP00000420412.1:p.Glu306GlyfsTer5
ENST00000484087.5:c.542_544delinsGG	ENSP00000419481.1:p.Glu181GlyfsTer5
ENST00000487825.5:c.545_547delinsGG	ENSP00000418212.1:p.Glu182GlyfsTer5
ENST00000491747.6:c.920_922delinsGG	ENSP00000420705.2:p.Glu307GlyfsTer5
ENST00000493795.5:c.4088_4090delinsGG	ENSP00000418775.1:p.Glu1363GlyfsTer5
ENST00000493919.5:c.779_781delinsGG	ENSP00000418819.1:p.Glu260GlyfsTer5
ENST00000586385.5:c.5-18581_5-18579delinsGG	ENSP00000465818.1:n.5-18581_5-18579delinsGG
ENST00000591534.5:c.-43-8011_-43-8009delinsGG	ENSP00000467329.1:n.-43-8011_-43-8009delinsGG
ENST00000591849.5:c.-98-32342_-98-32340delinsGG	ENSP00000465347.1:n.-98-32342_-98-32340delinsGG
ENST00000621897.1:n.123_125delinsGG
NM_007294.3:c.4229_4231delinsGG , LRG_292t1:c.4229_4231delinsGG	NP_009225.1:p.Glu1410GlyfsTer5
NM_007297.3:c.4088_4090delinsGG	NP_009228.2:p.Glu1363GlyfsTer5
NM_007298.3:c.920_922delinsGG	NP_009229.2:p.Glu307GlyfsTer5
NM_007299.3:c.920_922delinsGG	NP_009230.2:p.Glu307GlyfsTer5
NM_007300.3:c.4229_4231delinsGG	NP_009231.2:p.Glu1410GlyfsTer5
NR_027676.1:n.4365_4367delinsGG
NM_007294.4:c.4229_4231delinsGG MANE Select	NP_009225.1:p.Glu1410GlyfsTer5
NM_007297.4:c.4088_4090delinsGG	NP_009228.2:p.Glu1363GlyfsTer5
NM_007299.4:c.920_922delinsGG	NP_009230.2:p.Glu307GlyfsTer5
NM_007300.4:c.4229_4231delinsGG	NP_009231.2:p.Glu1410GlyfsTer5
NR_027676.2:n.4406_4408delinsGG