Canonical Allele Identifier: CA2260785007
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094520_43094533delinsTTCTGTGCTGGGAG , CM000679.2:g.43094520_43094533delinsTTCTGTGCTGGGAG GRCh38
NC_000017.10:g.41246537_41246550delinsTTCTGTGCTGGGAG , CM000679.1:g.41246537_41246550delinsTTCTGTGCTGGGAG GRCh37
NC_000017.9:g.38500063_38500076delinsTTCTGTGCTGGGAG NCBI36
NG_005905.2:g.123451_123464delinsCTCCCAGCACAGAA , LRG_292:g.123451_123464delinsCTCCCAGCACAGAA

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.1062_1075delinsCTCCCAGCACAGAA
ENST00000461574.2:c.998_1011delinsCTCCCAGCACAGAA ENSP00000417241.2:p.Thr333=
ENST00000470026.6:c.998_1011delinsCTCCCAGCACAGAA ENSP00000419274.2:p.Thr333=
ENST00000473961.6:c.872_885delinsCTCCCAGCACAGAA ENSP00000420201.2:p.Thr291=
ENST00000476777.6:c.995_1008delinsCTCCCAGCACAGAA ENSP00000417554.2:p.Thr332=
ENST00000477152.6:c.920_933delinsCTCCCAGCACAGAA ENSP00000419988.2:p.Thr307=
ENST00000478531.6:c.784+211_784+224delinsCTCCCAGCACAGAA ENSP00000420412.2:n.784+211_784+224delins...
ENST00000489037.2:c.920_933delinsCTCCCAGCACAGAA ENSP00000420781.2:p.Thr307=
ENST00000493919.6:c.646+211_646+224delinsCTCCCAGCACAGAA ENSP00000418819.2:n.646+211_646+224delins...
ENST00000494123.6:c.998_1011delinsCTCCCAGCACAGAA ENSP00000419103.2:p.Thr333=
ENST00000497488.2:c.110_123delinsCTCCCAGCACAGAA ENSP00000418986.2:p.Thr37=
ENST00000618469.2:c.998_1011delinsCTCCCAGCACAGAA ENSP00000478114.2:p.Thr333=
ENST00000634433.2:c.875_888delinsCTCCCAGCACAGAA ENSP00000489431.2:p.Thr292=
ENST00000644379.2:c.998_1011delinsCTCCCAGCACAGAA ENSP00000496570.2:p.Thr333=
ENST00000644555.2:c.646+211_646+224delinsCTCCCAGCACAGAA ENSP00000494614.2:n.646+211_646+224delins...
ENST00000652672.2:c.857_870delinsCTCCCAGCACAGAA ENSP00000498906.2:p.Thr286=
ENST00000484087.6:c.664+211_664+224delinsCTCCCAGCACAGAA ENSP00000419481.2:n.664+211_664+224delins...
ENST00000700182.1:c.706+211_706+224delinsCTCCCAGCACAGAA ENSP00000514849.1:n.706+211_706+224delins...
ENST00000700183.1:c.*1006_*1019delinsCTCCCAGCACAGAA ENSP00000514850.1:n.*1006_*1019delinsCTCC...
ENST00000357654.9:c.998_1011delinsCTCCCAGCACAGAA MANE Select ENSP00000350283.3:p.Thr333=
ENST00000471181.7:c.998_1011delinsCTCCCAGCACAGAA ENSP00000418960.2:p.Thr333=
ENST00000642945.1:c.*872_*885delinsCTCCCAGCACAGAA ENSP00000495897.1:n.*872_*885delinsCTCCCA...
ENST00000652672.1:c.857_870delinsCTCCCAGCACAGAA ENSP00000498906.1:p.Thr286=
ENST00000352993.7:c.670+1313_670+1326delinsCTCCCAGCACAGAA ENSP00000312236.5:n.670+1313_670+1326deli...
ENST00000354071.7:c.998_1011delinsCTCCCAGCACAGAA ENSP00000326002.7:p.Thr333=
ENST00000357654.7:c.998_1011delinsCTCCCAGCACAGAA ENSP00000350283.3:p.Thr333=
ENST00000412061.3:c.349_362delinsCTCCCAGCACAGAA
ENST00000461221.5:c.*781_*794delinsCTCCCAGCACAGAA ENSP00000418548.1:n.*781_*794delinsCTCCCA...
ENST00000468300.5:c.787+211_787+224delinsCTCCCAGCACAGAA ENSP00000417148.1:n.787+211_787+224delins...
ENST00000470026.5:c.998_1011delinsCTCCCAGCACAGAA ENSP00000419274.1:p.Thr333=
ENST00000471181.6:c.998_1011delinsCTCCCAGCACAGAA ENSP00000418960.2:p.Thr333=
ENST00000473961.5:c.595_608delinsCTCCCAGCACAGAA
ENST00000477152.5:c.920_933delinsCTCCCAGCACAGAA ENSP00000419988.1:p.Thr307=
ENST00000478531.5:c.784+211_784+224delinsCTCCCAGCACAGAA ENSP00000420412.1:n.784+211_784+224delins...
ENST00000484087.5:c.409+211_409+224delinsCTCCCAGCACAGAA ENSP00000419481.1:n.409+211_409+224delins...
ENST00000487825.5:c.412+211_412+224delinsCTCCCAGCACAGAA ENSP00000418212.1:n.412+211_412+224delins...
ENST00000491747.6:c.787+211_787+224delinsCTCCCAGCACAGAA ENSP00000420705.2:n.787+211_787+224delins...
ENST00000492859.5:c.*934_*947delinsCTCCCAGCACAGAA ENSP00000420253.1:n.*934_*947delinsCTCCCA...
ENST00000493795.5:c.857_870delinsCTCCCAGCACAGAA ENSP00000418775.1:p.Thr286=
ENST00000493919.5:c.646+211_646+224delinsCTCCCAGCACAGAA ENSP00000418819.1:n.646+211_646+224delins...
ENST00000494123.5:c.998_1011delinsCTCCCAGCACAGAA ENSP00000419103.1:p.Thr333=
ENST00000497488.1:c.110_123delinsCTCCCAGCACAGAA ENSP00000418986.1:p.Thr37=
ENST00000586385.5:c.5-30582_5-30569delinsCTCCCAGCACAGAA ENSP00000465818.1:n.5-30582_5-30569delins...
ENST00000591534.5:c.-43-20012_-43-19999delinsCTCCCAGCACAGAA ENSP00000467329.1:n.-43-20012_-43-19999de...
ENST00000591849.5:c.-99+30738_-99+30751delinsCTCCCAGCACAGAA ENSP00000465347.1:n.-99+30738_-99+30751de...
ENST00000634433.1:c.875_888delinsCTCCCAGCACAGAA ENSP00000489431.1:p.Thr292=
NM_007294.3:c.998_1011delinsCTCCCAGCACAGAA , LRG_292t1:c.998_1011delinsCTCCCAGCACAGAA NP_009225.1:p.Thr333=
NM_007297.3:c.857_870delinsCTCCCAGCACAGAA NP_009228.2:p.Thr286=
NM_007298.3:c.787+211_787+224delinsCTCCCAGCACAGAA NP_009229.2:n.787+211_787+224delinsCTCCCA...
NM_007299.3:c.787+211_787+224delinsCTCCCAGCACAGAA NP_009230.2:n.787+211_787+224delinsCTCCCA...
NM_007300.3:c.998_1011delinsCTCCCAGCACAGAA NP_009231.2:p.Thr333=
NR_027676.1:n.1134_1147delinsCTCCCAGCACAGAA
NM_007294.4:c.998_1011delinsCTCCCAGCACAGAA MANE Select NP_009225.1:p.Thr333=
NM_007297.4:c.857_870delinsCTCCCAGCACAGAA NP_009228.2:p.Thr286=
NM_007299.4:c.787+211_787+224delinsCTCCCAGCACAGAA NP_009230.2:n.787+211_787+224delinsCTCCCA...
NM_007300.4:c.998_1011delinsCTCCCAGCACAGAA NP_009231.2:p.Thr333=
NR_027676.2:n.1175_1188delinsCTCCCAGCACAGAA