Canonical Allele Identifier: CA916080150

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43090944_43090946delinsCTG , CM000679.2:g.43090944_43090946delinsCTG	GRCh38
NC_000017.10:g.41242961_41242963delinsCTG , CM000679.1:g.41242961_41242963delinsCTG	GRCh37
NC_000017.9:g.38496487_38496489delinsCTG	NCBI36
NG_005905.2:g.127038_127040delinsCAG , LRG_292:g.127038_127040delinsCAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4183_4185delinsCAG	ENSP00000417241.2:p.Gln1395=
ENST00000470026.6:c.4183_4185delinsCAG	ENSP00000419274.2:p.Gln1395=
ENST00000473961.6:c.4057_4059delinsCAG	ENSP00000420201.2:p.Gln1353=
ENST00000476777.6:c.4180_4182delinsCAG	ENSP00000417554.2:p.Gln1394=
ENST00000477152.6:c.4105_4107delinsCAG	ENSP00000419988.2:p.Gln1369=
ENST00000478531.6:c.871_873delinsCAG	ENSP00000420412.2:p.Gln291=
ENST00000489037.2:c.4105_4107delinsCAG	ENSP00000420781.2:p.Gln1369=
ENST00000493919.6:c.733_735delinsCAG	ENSP00000418819.2:p.Gln245=
ENST00000494123.6:c.4183_4185delinsCAG	ENSP00000419103.2:p.Gln1395=
ENST00000497488.2:c.3295_3297delinsCAG	ENSP00000418986.2:p.Gln1099=
ENST00000618469.2:c.4183_4185delinsCAG	ENSP00000478114.2:p.Gln1395=
ENST00000634433.2:c.4060_4062delinsCAG	ENSP00000489431.2:p.Gln1354=
ENST00000644379.2:c.4183_4185delinsCAG	ENSP00000496570.2:p.Gln1395=
ENST00000644555.2:c.733_735delinsCAG	ENSP00000494614.2:p.Gln245=
ENST00000652672.2:c.4042_4044delinsCAG	ENSP00000498906.2:p.Gln1348=
ENST00000484087.6:c.751_753delinsCAG	ENSP00000419481.2:p.Gln251=
ENST00000700182.1:c.793_795delinsCAG	ENSP00000514849.1:p.Gln265=
ENST00000357654.9:c.4183_4185delinsCAG MANE Select	ENSP00000350283.3:p.Gln1395=
ENST00000471181.7:c.4183_4185delinsCAG	ENSP00000418960.2:p.Gln1395=
ENST00000644379.1:c.504_506delinsCAG
ENST00000352993.7:c.757_759delinsCAG	ENSP00000312236.5:p.Gln253=
ENST00000357654.7:c.4183_4185delinsCAG	ENSP00000350283.3:p.Gln1395=
ENST00000461221.5:c.*3966_*3968delinsCAG	ENSP00000418548.1:n.*3966_*3968delinsCAG
ENST00000461574.1:c.477_479delinsCAG
ENST00000468300.5:c.874_876delinsCAG	ENSP00000417148.1:p.Gln292=
ENST00000471181.6:c.4183_4185delinsCAG	ENSP00000418960.2:p.Gln1395=
ENST00000478531.5:c.871_873delinsCAG	ENSP00000420412.1:p.Gln291=
ENST00000484087.5:c.496_498delinsCAG	ENSP00000419481.1:p.Gln166=
ENST00000487825.5:c.499_501delinsCAG	ENSP00000418212.1:p.Gln167=
ENST00000491747.6:c.874_876delinsCAG	ENSP00000420705.2:p.Gln292=
ENST00000493795.5:c.4042_4044delinsCAG	ENSP00000418775.1:p.Gln1348=
ENST00000493919.5:c.733_735delinsCAG	ENSP00000418819.1:p.Gln245=
ENST00000586385.5:c.5-26995_5-26993delinsCAG	ENSP00000465818.1:n.5-26995_5-26993delinsCAG
ENST00000591534.5:c.-43-16425_-43-16423delinsCAG	ENSP00000467329.1:n.-43-16425_-43-16423delinsCAG
ENST00000591849.5:c.-99+34325_-99+34327delinsCAG	ENSP00000465347.1:n.-99+34325_-99+34327delinsCAG
NM_007294.3:c.4183_4185delinsCAG , LRG_292t1:c.4183_4185delinsCAG	NP_009225.1:p.Gln1395=
NM_007297.3:c.4042_4044delinsCAG	NP_009228.2:p.Gln1348=
NM_007298.3:c.874_876delinsCAG	NP_009229.2:p.Gln292=
NM_007299.3:c.874_876delinsCAG	NP_009230.2:p.Gln292=
NM_007300.3:c.4183_4185delinsCAG	NP_009231.2:p.Gln1395=
NR_027676.1:n.4319_4321delinsCAG
NM_007294.4:c.4183_4185delinsCAG MANE Select	NP_009225.1:p.Gln1395=
NM_007297.4:c.4042_4044delinsCAG	NP_009228.2:p.Gln1348=
NM_007299.4:c.874_876delinsCAG	NP_009230.2:p.Gln292=
NM_007300.4:c.4183_4185delinsCAG	NP_009231.2:p.Gln1395=
NR_027676.2:n.4360_4362delinsCAG