Canonical Allele Identifier: CA2260783843

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093331_43093332delinsTC , CM000679.2:g.43093331_43093332delinsTC	GRCh38
NC_000017.10:g.41245348_41245349delinsTC , CM000679.1:g.41245348_41245349delinsTC	GRCh37
NC_000017.9:g.38498874_38498875delinsTC	NCBI36
NG_005905.2:g.124652_124653delinsGA , LRG_292:g.124652_124653delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2263_2264delinsGA
ENST00000461574.2:c.2199_2200delinsGA	ENSP00000417241.2:p.Glu733=
ENST00000470026.6:c.2199_2200delinsGA	ENSP00000419274.2:p.Glu733=
ENST00000473961.6:c.2073_2074delinsGA	ENSP00000420201.2:p.Glu691=
ENST00000476777.6:c.2196_2197delinsGA	ENSP00000417554.2:p.Glu732=
ENST00000477152.6:c.2121_2122delinsGA	ENSP00000419988.2:p.Glu707=
ENST00000478531.6:c.784+1412_784+1413delinsGA	ENSP00000420412.2:n.784+1412_784+1413delinsGA
ENST00000489037.2:c.2121_2122delinsGA	ENSP00000420781.2:p.Glu707=
ENST00000493919.6:c.646+1412_646+1413delinsGA	ENSP00000418819.2:n.646+1412_646+1413delinsGA
ENST00000494123.6:c.2199_2200delinsGA	ENSP00000419103.2:p.Glu733=
ENST00000497488.2:c.1311_1312delinsGA	ENSP00000418986.2:p.Glu437=
ENST00000618469.2:c.2199_2200delinsGA	ENSP00000478114.2:p.Glu733=
ENST00000634433.2:c.2076_2077delinsGA	ENSP00000489431.2:p.Glu692=
ENST00000644379.2:c.2199_2200delinsGA	ENSP00000496570.2:p.Glu733=
ENST00000644555.2:c.646+1412_646+1413delinsGA	ENSP00000494614.2:n.646+1412_646+1413delinsGA
ENST00000652672.2:c.2058_2059delinsGA	ENSP00000498906.2:p.Glu686=
ENST00000484087.6:c.664+1412_664+1413delinsGA	ENSP00000419481.2:n.664+1412_664+1413delinsGA
ENST00000700182.1:c.706+1412_706+1413delinsGA	ENSP00000514849.1:n.706+1412_706+1413delinsGA
ENST00000357654.9:c.2199_2200delinsGA MANE Select	ENSP00000350283.3:p.Glu733=
ENST00000471181.7:c.2199_2200delinsGA	ENSP00000418960.2:p.Glu733=
ENST00000352993.7:c.671-2300_671-2299delinsGA	ENSP00000312236.5:n.671-2300_671-2299delinsGA
ENST00000354071.7:c.2199_2200delinsGA	ENSP00000326002.7:p.Glu733=
ENST00000357654.7:c.2199_2200delinsGA	ENSP00000350283.3:p.Glu733=
ENST00000461221.5:c.*1982_*1983delinsGA	ENSP00000418548.1:n.*1982_*1983delinsGA
ENST00000468300.5:c.787+1412_787+1413delinsGA	ENSP00000417148.1:n.787+1412_787+1413delinsGA
ENST00000471181.6:c.2199_2200delinsGA	ENSP00000418960.2:p.Glu733=
ENST00000478531.5:c.784+1412_784+1413delinsGA	ENSP00000420412.1:n.784+1412_784+1413delinsGA
ENST00000484087.5:c.409+1412_409+1413delinsGA	ENSP00000419481.1:n.409+1412_409+1413delinsGA
ENST00000487825.5:c.412+1412_412+1413delinsGA	ENSP00000418212.1:n.412+1412_412+1413delinsGA
ENST00000491747.6:c.787+1412_787+1413delinsGA	ENSP00000420705.2:n.787+1412_787+1413delinsGA
ENST00000493795.5:c.2058_2059delinsGA	ENSP00000418775.1:p.Glu686=
ENST00000493919.5:c.646+1412_646+1413delinsGA	ENSP00000418819.1:n.646+1412_646+1413delinsGA
ENST00000586385.5:c.5-29381_5-29380delinsGA	ENSP00000465818.1:n.5-29381_5-29380delinsGA
ENST00000591534.5:c.-43-18811_-43-18810delinsGA	ENSP00000467329.1:n.-43-18811_-43-18810delinsGA
ENST00000591849.5:c.-99+31939_-99+31940delinsGA	ENSP00000465347.1:n.-99+31939_-99+31940delinsGA
ENST00000634433.1:c.2076_2077delinsGA	ENSP00000489431.1:p.Glu692=
NM_007294.3:c.2199_2200delinsGA , LRG_292t1:c.2199_2200delinsGA	NP_009225.1:p.Glu733=
NM_007297.3:c.2058_2059delinsGA	NP_009228.2:p.Glu686=
NM_007298.3:c.787+1412_787+1413delinsGA	NP_009229.2:n.787+1412_787+1413delinsGA
NM_007299.3:c.787+1412_787+1413delinsGA	NP_009230.2:n.787+1412_787+1413delinsGA
NM_007300.3:c.2199_2200delinsGA	NP_009231.2:p.Glu733=
NR_027676.1:n.2335_2336delinsGA
NM_007294.4:c.2199_2200delinsGA MANE Select	NP_009225.1:p.Glu733=
NM_007297.4:c.2058_2059delinsGA	NP_009228.2:p.Glu686=
NM_007299.4:c.787+1412_787+1413delinsGA	NP_009230.2:n.787+1412_787+1413delinsGA
NM_007300.4:c.2199_2200delinsGA	NP_009231.2:p.Glu733=
NR_027676.2:n.2376_2377delinsGA