Canonical Allele Identifier: CA2260783859
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43093341_43093346delinsTTCTTC , CM000679.2:g.43093341_43093346delinsTTCTTC GRCh38
NC_000017.10:g.41245358_41245363delinsTTCTTC , CM000679.1:g.41245358_41245363delinsTTCTTC GRCh37
NC_000017.9:g.38498884_38498889delinsTTCTTC NCBI36
NG_005905.2:g.124638_124643delinsGAAGAA , LRG_292:g.124638_124643delinsGAAGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.2249_2254delinsGAAGAA
ENST00000461574.2:c.2185_2190delinsGAAGAA ENSP00000417241.2:p.Glu729=
ENST00000470026.6:c.2185_2190delinsGAAGAA ENSP00000419274.2:p.Glu729=
ENST00000473961.6:c.2059_2064delinsGAAGAA ENSP00000420201.2:p.Glu687=
ENST00000476777.6:c.2182_2187delinsGAAGAA ENSP00000417554.2:p.Glu728=
ENST00000477152.6:c.2107_2112delinsGAAGAA ENSP00000419988.2:p.Glu703=
ENST00000478531.6:c.784+1398_784+1403delinsGAAGAA ENSP00000420412.2:n.784+1398_784+1403delinsGAAGAA
ENST00000489037.2:c.2107_2112delinsGAAGAA ENSP00000420781.2:p.Glu703=
ENST00000493919.6:c.646+1398_646+1403delinsGAAGAA ENSP00000418819.2:n.646+1398_646+1403delinsGAAGAA
ENST00000494123.6:c.2185_2190delinsGAAGAA ENSP00000419103.2:p.Glu729=
ENST00000497488.2:c.1297_1302delinsGAAGAA ENSP00000418986.2:p.Glu433=
ENST00000618469.2:c.2185_2190delinsGAAGAA ENSP00000478114.2:p.Glu729=
ENST00000634433.2:c.2062_2067delinsGAAGAA ENSP00000489431.2:p.Glu688=
ENST00000644379.2:c.2185_2190delinsGAAGAA ENSP00000496570.2:p.Glu729=
ENST00000644555.2:c.646+1398_646+1403delinsGAAGAA ENSP00000494614.2:n.646+1398_646+1403delinsGAAGAA
ENST00000652672.2:c.2044_2049delinsGAAGAA ENSP00000498906.2:p.Glu682=
ENST00000484087.6:c.664+1398_664+1403delinsGAAGAA ENSP00000419481.2:n.664+1398_664+1403delinsGAAGAA
ENST00000700182.1:c.706+1398_706+1403delinsGAAGAA ENSP00000514849.1:n.706+1398_706+1403delinsGAAGAA
ENST00000357654.9:c.2185_2190delinsGAAGAA MANE Select ENSP00000350283.3:p.Glu729=
ENST00000471181.7:c.2185_2190delinsGAAGAA ENSP00000418960.2:p.Glu729=
ENST00000352993.7:c.671-2314_671-2309delinsGAAGAA ENSP00000312236.5:n.671-2314_671-2309delinsGAAGAA
ENST00000354071.7:c.2185_2190delinsGAAGAA ENSP00000326002.7:p.Glu729=
ENST00000357654.7:c.2185_2190delinsGAAGAA ENSP00000350283.3:p.Glu729=
ENST00000461221.5:c.*1968_*1973delinsGAAGAA ENSP00000418548.1:n.*1968_*1973delinsGAAGAA
ENST00000468300.5:c.787+1398_787+1403delinsGAAGAA ENSP00000417148.1:n.787+1398_787+1403delinsGAAGAA
ENST00000471181.6:c.2185_2190delinsGAAGAA ENSP00000418960.2:p.Glu729=
ENST00000478531.5:c.784+1398_784+1403delinsGAAGAA ENSP00000420412.1:n.784+1398_784+1403delinsGAAGAA
ENST00000484087.5:c.409+1398_409+1403delinsGAAGAA ENSP00000419481.1:n.409+1398_409+1403delinsGAAGAA
ENST00000487825.5:c.412+1398_412+1403delinsGAAGAA ENSP00000418212.1:n.412+1398_412+1403delinsGAAGAA
ENST00000491747.6:c.787+1398_787+1403delinsGAAGAA ENSP00000420705.2:n.787+1398_787+1403delinsGAAGAA
ENST00000493795.5:c.2044_2049delinsGAAGAA ENSP00000418775.1:p.Glu682=
ENST00000493919.5:c.646+1398_646+1403delinsGAAGAA ENSP00000418819.1:n.646+1398_646+1403delinsGAAGAA
ENST00000586385.5:c.5-29395_5-29390delinsGAAGAA ENSP00000465818.1:n.5-29395_5-29390delinsGAAGAA
ENST00000591534.5:c.-43-18825_-43-18820delinsGAAGAA ENSP00000467329.1:n.-43-18825_-43-18820delinsGAAGAA
ENST00000591849.5:c.-99+31925_-99+31930delinsGAAGAA ENSP00000465347.1:n.-99+31925_-99+31930delinsGAAGAA
ENST00000634433.1:c.2062_2067delinsGAAGAA ENSP00000489431.1:p.Glu688=
NM_007294.3:c.2185_2190delinsGAAGAA , LRG_292t1:c.2185_2190delinsGAAGAA NP_009225.1:p.Glu729=
NM_007297.3:c.2044_2049delinsGAAGAA NP_009228.2:p.Glu682=
NM_007298.3:c.787+1398_787+1403delinsGAAGAA NP_009229.2:n.787+1398_787+1403delinsGAAGAA
NM_007299.3:c.787+1398_787+1403delinsGAAGAA NP_009230.2:n.787+1398_787+1403delinsGAAGAA
NM_007300.3:c.2185_2190delinsGAAGAA NP_009231.2:p.Glu729=
NR_027676.1:n.2321_2326delinsGAAGAA
NM_007294.4:c.2185_2190delinsGAAGAA MANE Select NP_009225.1:p.Glu729=
NM_007297.4:c.2044_2049delinsGAAGAA NP_009228.2:p.Glu682=
NM_007299.4:c.787+1398_787+1403delinsGAAGAA NP_009230.2:n.787+1398_787+1403delinsGAAGAA
NM_007300.4:c.2185_2190delinsGAAGAA NP_009231.2:p.Glu729=
NR_027676.2:n.2362_2367delinsGAAGAA