Canonical Allele Identifier: CA2260784007

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093470_43093474delinsCTGTT , CM000679.2:g.43093470_43093474delinsCTGTT	GRCh38
NC_000017.10:g.41245487_41245491delinsCTGTT , CM000679.1:g.41245487_41245491delinsCTGTT	GRCh37
NC_000017.9:g.38499013_38499017delinsCTGTT	NCBI36
NG_005905.2:g.124510_124514delinsAACAG , LRG_292:g.124510_124514delinsAACAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2121_2125delinsAACAG
ENST00000461574.2:c.2057_2061delinsAACAG	ENSP00000417241.2:p.Glu686=
ENST00000470026.6:c.2057_2061delinsAACAG	ENSP00000419274.2:p.Glu686=
ENST00000473961.6:c.1931_1935delinsAACAG	ENSP00000420201.2:p.Glu644=
ENST00000476777.6:c.2054_2058delinsAACAG	ENSP00000417554.2:p.Glu685=
ENST00000477152.6:c.1979_1983delinsAACAG	ENSP00000419988.2:p.Glu660=
ENST00000478531.6:c.784+1270_784+1274delinsAACAG	ENSP00000420412.2:n.784+1270_784+1274delinsAACAG
ENST00000489037.2:c.1979_1983delinsAACAG	ENSP00000420781.2:p.Glu660=
ENST00000493919.6:c.646+1270_646+1274delinsAACAG	ENSP00000418819.2:n.646+1270_646+1274delinsAACAG
ENST00000494123.6:c.2057_2061delinsAACAG	ENSP00000419103.2:p.Glu686=
ENST00000497488.2:c.1169_1173delinsAACAG	ENSP00000418986.2:p.Glu390=
ENST00000618469.2:c.2057_2061delinsAACAG	ENSP00000478114.2:p.Glu686=
ENST00000634433.2:c.1934_1938delinsAACAG	ENSP00000489431.2:p.Glu645=
ENST00000644379.2:c.2057_2061delinsAACAG	ENSP00000496570.2:p.Glu686=
ENST00000644555.2:c.646+1270_646+1274delinsAACAG	ENSP00000494614.2:n.646+1270_646+1274delinsAACAG
ENST00000652672.2:c.1916_1920delinsAACAG	ENSP00000498906.2:p.Glu639=
ENST00000484087.6:c.664+1270_664+1274delinsAACAG	ENSP00000419481.2:n.664+1270_664+1274delinsAACAG
ENST00000700182.1:c.706+1270_706+1274delinsAACAG	ENSP00000514849.1:n.706+1270_706+1274delinsAACAG
ENST00000357654.9:c.2057_2061delinsAACAG MANE Select	ENSP00000350283.3:p.Glu686=
ENST00000471181.7:c.2057_2061delinsAACAG	ENSP00000418960.2:p.Glu686=
ENST00000352993.7:c.670+2372_670+2376delinsAACAG	ENSP00000312236.5:n.670+2372_670+2376delinsAACAG
ENST00000354071.7:c.2057_2061delinsAACAG	ENSP00000326002.7:p.Glu686=
ENST00000357654.7:c.2057_2061delinsAACAG	ENSP00000350283.3:p.Glu686=
ENST00000461221.5:c.*1840_*1844delinsAACAG	ENSP00000418548.1:n.*1840_*1844delinsAACAG
ENST00000468300.5:c.787+1270_787+1274delinsAACAG	ENSP00000417148.1:n.787+1270_787+1274delinsAACAG
ENST00000471181.6:c.2057_2061delinsAACAG	ENSP00000418960.2:p.Glu686=
ENST00000478531.5:c.784+1270_784+1274delinsAACAG	ENSP00000420412.1:n.784+1270_784+1274delinsAACAG
ENST00000484087.5:c.409+1270_409+1274delinsAACAG	ENSP00000419481.1:n.409+1270_409+1274delinsAACAG
ENST00000487825.5:c.412+1270_412+1274delinsAACAG	ENSP00000418212.1:n.412+1270_412+1274delinsAACAG
ENST00000491747.6:c.787+1270_787+1274delinsAACAG	ENSP00000420705.2:n.787+1270_787+1274delinsAACAG
ENST00000493795.5:c.1916_1920delinsAACAG	ENSP00000418775.1:p.Glu639=
ENST00000493919.5:c.646+1270_646+1274delinsAACAG	ENSP00000418819.1:n.646+1270_646+1274delinsAACAG
ENST00000586385.5:c.5-29523_5-29519delinsAACAG	ENSP00000465818.1:n.5-29523_5-29519delinsAACAG
ENST00000591534.5:c.-43-18953_-43-18949delinsAACAG	ENSP00000467329.1:n.-43-18953_-43-18949delinsAACAG
ENST00000591849.5:c.-99+31797_-99+31801delinsAACAG	ENSP00000465347.1:n.-99+31797_-99+31801delinsAACAG
ENST00000634433.1:c.1934_1938delinsAACAG	ENSP00000489431.1:p.Glu645=
NM_007294.3:c.2057_2061delinsAACAG , LRG_292t1:c.2057_2061delinsAACAG	NP_009225.1:p.Glu686=
NM_007297.3:c.1916_1920delinsAACAG	NP_009228.2:p.Glu639=
NM_007298.3:c.787+1270_787+1274delinsAACAG	NP_009229.2:n.787+1270_787+1274delinsAACAG
NM_007299.3:c.787+1270_787+1274delinsAACAG	NP_009230.2:n.787+1270_787+1274delinsAACAG
NM_007300.3:c.2057_2061delinsAACAG	NP_009231.2:p.Glu686=
NR_027676.1:n.2193_2197delinsAACAG
NM_007294.4:c.2057_2061delinsAACAG MANE Select	NP_009225.1:p.Glu686=
NM_007297.4:c.1916_1920delinsAACAG	NP_009228.2:p.Glu639=
NM_007299.4:c.787+1270_787+1274delinsAACAG	NP_009230.2:n.787+1270_787+1274delinsAACAG
NM_007300.4:c.2057_2061delinsAACAG	NP_009231.2:p.Glu686=
NR_027676.2:n.2234_2238delinsAACAG