Canonical Allele Identifier: CA2260783688

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093185_43093186delinsAC , CM000679.2:g.43093185_43093186delinsAC	GRCh38
NC_000017.10:g.41245202_41245203delinsAC , CM000679.1:g.41245202_41245203delinsAC	GRCh37
NC_000017.9:g.38498728_38498729delinsAC	NCBI36
NG_005905.2:g.124798_124799delinsGT , LRG_292:g.124798_124799delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2409_2410delinsGT
ENST00000461574.2:c.2345_2346delinsGT	ENSP00000417241.2:p.Ser782=
ENST00000470026.6:c.2345_2346delinsGT	ENSP00000419274.2:p.Ser782=
ENST00000473961.6:c.2219_2220delinsGT	ENSP00000420201.2:p.Ser740=
ENST00000476777.6:c.2342_2343delinsGT	ENSP00000417554.2:p.Ser781=
ENST00000477152.6:c.2267_2268delinsGT	ENSP00000419988.2:p.Ser756=
ENST00000478531.6:c.784+1558_784+1559delinsGT	ENSP00000420412.2:n.784+1558_784+1559delinsGT
ENST00000489037.2:c.2267_2268delinsGT	ENSP00000420781.2:p.Ser756=
ENST00000493919.6:c.646+1558_646+1559delinsGT	ENSP00000418819.2:n.646+1558_646+1559delinsGT
ENST00000494123.6:c.2345_2346delinsGT	ENSP00000419103.2:p.Ser782=
ENST00000497488.2:c.1457_1458delinsGT	ENSP00000418986.2:p.Ser486=
ENST00000618469.2:c.2345_2346delinsGT	ENSP00000478114.2:p.Ser782=
ENST00000634433.2:c.2222_2223delinsGT	ENSP00000489431.2:p.Ser741=
ENST00000644379.2:c.2345_2346delinsGT	ENSP00000496570.2:p.Ser782=
ENST00000644555.2:c.646+1558_646+1559delinsGT	ENSP00000494614.2:n.646+1558_646+1559delinsGT
ENST00000652672.2:c.2204_2205delinsGT	ENSP00000498906.2:p.Ser735=
ENST00000484087.6:c.664+1558_664+1559delinsGT	ENSP00000419481.2:n.664+1558_664+1559delinsGT
ENST00000700182.1:c.706+1558_706+1559delinsGT	ENSP00000514849.1:n.706+1558_706+1559delinsGT
ENST00000357654.9:c.2345_2346delinsGT MANE Select	ENSP00000350283.3:p.Ser782=
ENST00000471181.7:c.2345_2346delinsGT	ENSP00000418960.2:p.Ser782=
ENST00000352993.7:c.671-2154_671-2153delinsGT	ENSP00000312236.5:n.671-2154_671-2153delinsGT
ENST00000354071.7:c.2345_2346delinsGT	ENSP00000326002.7:p.Ser782=
ENST00000357654.7:c.2345_2346delinsGT	ENSP00000350283.3:p.Ser782=
ENST00000461221.5:c.*2128_*2129delinsGT	ENSP00000418548.1:n.*2128_*2129delinsGT
ENST00000468300.5:c.787+1558_787+1559delinsGT	ENSP00000417148.1:n.787+1558_787+1559delinsGT
ENST00000471181.6:c.2345_2346delinsGT	ENSP00000418960.2:p.Ser782=
ENST00000478531.5:c.784+1558_784+1559delinsGT	ENSP00000420412.1:n.784+1558_784+1559delinsGT
ENST00000484087.5:c.409+1558_409+1559delinsGT	ENSP00000419481.1:n.409+1558_409+1559delinsGT
ENST00000487825.5:c.412+1558_412+1559delinsGT	ENSP00000418212.1:n.412+1558_412+1559delinsGT
ENST00000491747.6:c.787+1558_787+1559delinsGT	ENSP00000420705.2:n.787+1558_787+1559delinsGT
ENST00000493795.5:c.2204_2205delinsGT	ENSP00000418775.1:p.Ser735=
ENST00000493919.5:c.646+1558_646+1559delinsGT	ENSP00000418819.1:n.646+1558_646+1559delinsGT
ENST00000586385.5:c.5-29235_5-29234delinsGT	ENSP00000465818.1:n.5-29235_5-29234delinsGT
ENST00000591534.5:c.-43-18665_-43-18664delinsGT	ENSP00000467329.1:n.-43-18665_-43-18664delinsGT
ENST00000591849.5:c.-99+32085_-99+32086delinsGT	ENSP00000465347.1:n.-99+32085_-99+32086delinsGT
ENST00000634433.1:c.2222_2223delinsGT	ENSP00000489431.1:p.Ser741=
NM_007294.3:c.2345_2346delinsGT , LRG_292t1:c.2345_2346delinsGT	NP_009225.1:p.Ser782=
NM_007297.3:c.2204_2205delinsGT	NP_009228.2:p.Ser735=
NM_007298.3:c.787+1558_787+1559delinsGT	NP_009229.2:n.787+1558_787+1559delinsGT
NM_007299.3:c.787+1558_787+1559delinsGT	NP_009230.2:n.787+1558_787+1559delinsGT
NM_007300.3:c.2345_2346delinsGT	NP_009231.2:p.Ser782=
NR_027676.1:n.2481_2482delinsGT
NM_007294.4:c.2345_2346delinsGT MANE Select	NP_009225.1:p.Ser782=
NM_007297.4:c.2204_2205delinsGT	NP_009228.2:p.Ser735=
NM_007299.4:c.787+1558_787+1559delinsGT	NP_009230.2:n.787+1558_787+1559delinsGT
NM_007300.4:c.2345_2346delinsGT	NP_009231.2:p.Ser782=
NR_027676.2:n.2522_2523delinsGT