Canonical Allele Identifier: CA001370
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43093462_43093463del , CM000679.2:g.43093462_43093463del GRCh38
NC_000017.10:g.41245479_41245480del , CM000679.1:g.41245479_41245480del GRCh37
NC_000017.9:g.38499005_38499006del NCBI36
NG_005905.2:g.124523_124524del , LRG_292:g.124523_124524del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.2134_2135del
ENST00000461574.2:c.2070_2071del ENSP00000417241.2:p.Arg691ThrfsTer2
ENST00000470026.6:c.2070_2071del ENSP00000419274.2:p.Arg691ThrfsTer2
ENST00000473961.6:c.1944_1945del ENSP00000420201.2:p.Arg649ThrfsTer2
ENST00000476777.6:c.2067_2068del ENSP00000417554.2:p.Arg690ThrfsTer2
ENST00000477152.6:c.1992_1993del ENSP00000419988.2:p.Arg665ThrfsTer2
ENST00000478531.6:c.784+1283_784+1284del ENSP00000420412.2:n.784+1283_784+1284del
ENST00000489037.2:c.1992_1993del ENSP00000420781.2:p.Arg665ThrfsTer2
ENST00000493919.6:c.646+1283_646+1284del ENSP00000418819.2:n.646+1283_646+1284del
ENST00000494123.6:c.2070_2071del ENSP00000419103.2:p.Arg691ThrfsTer2
ENST00000497488.2:c.1182_1183del ENSP00000418986.2:p.Arg395ThrfsTer2
ENST00000618469.2:c.2070_2071del ENSP00000478114.2:p.Arg691ThrfsTer2
ENST00000634433.2:c.1947_1948del ENSP00000489431.2:p.Arg650ThrfsTer2
ENST00000644379.2:c.2070_2071del ENSP00000496570.2:p.Arg691ThrfsTer2
ENST00000644555.2:c.646+1283_646+1284del ENSP00000494614.2:n.646+1283_646+1284del
ENST00000652672.2:c.1929_1930del ENSP00000498906.2:p.Arg644ThrfsTer2
ENST00000484087.6:c.664+1283_664+1284del ENSP00000419481.2:n.664+1283_664+1284del
ENST00000700182.1:c.706+1283_706+1284del ENSP00000514849.1:n.706+1283_706+1284del
ENST00000357654.9:c.2070_2071del MANE Select ENSP00000350283.3:p.Arg691ThrfsTer2
ENST00000471181.7:c.2070_2071del ENSP00000418960.2:p.Arg691ThrfsTer2
ENST00000352993.7:c.670+2385_670+2386del ENSP00000312236.5:n.670+2385_670+2386del
ENST00000354071.7:c.2070_2071del ENSP00000326002.7:p.Arg691ThrfsTer2
ENST00000357654.7:c.2070_2071del ENSP00000350283.3:p.Arg691ThrfsTer2
ENST00000461221.5:c.*1853_*1854del ENSP00000418548.1:n.*1853_*1854del
ENST00000468300.5:c.787+1283_787+1284del ENSP00000417148.1:n.787+1283_787+1284del
ENST00000471181.6:c.2070_2071del ENSP00000418960.2:p.Arg691ThrfsTer2
ENST00000478531.5:c.784+1283_784+1284del ENSP00000420412.1:n.784+1283_784+1284del
ENST00000484087.5:c.409+1283_409+1284del ENSP00000419481.1:n.409+1283_409+1284del
ENST00000487825.5:c.412+1283_412+1284del ENSP00000418212.1:n.412+1283_412+1284del
ENST00000491747.6:c.787+1283_787+1284del ENSP00000420705.2:n.787+1283_787+1284del
ENST00000493795.5:c.1929_1930del ENSP00000418775.1:p.Arg644ThrfsTer2
ENST00000493919.5:c.646+1283_646+1284del ENSP00000418819.1:n.646+1283_646+1284del
ENST00000586385.5:c.5-29510_5-29509del ENSP00000465818.1:n.5-29510_5-29509del
ENST00000591534.5:c.-43-18940_-43-18939del ENSP00000467329.1:n.-43-18940_-43-18939del
ENST00000591849.5:c.-99+31810_-99+31811del ENSP00000465347.1:n.-99+31810_-99+31811del
ENST00000634433.1:c.1947_1948del ENSP00000489431.1:p.Arg650ThrfsTer2
NM_007294.3:c.2070_2071del , LRG_292t1:c.2070_2071del NP_009225.1:p.Arg691ThrfsTer2
NM_007297.3:c.1929_1930del NP_009228.2:p.Arg644ThrfsTer2
NM_007298.3:c.787+1283_787+1284del NP_009229.2:n.787+1283_787+1284del
NM_007299.3:c.787+1283_787+1284del NP_009230.2:n.787+1283_787+1284del
NM_007300.3:c.2070_2071del NP_009231.2:p.Arg691ThrfsTer2
NR_027676.1:n.2206_2207del
NM_007294.4:c.2070_2071del MANE Select NP_009225.1:p.Arg691ThrfsTer2
NM_007297.4:c.1929_1930del NP_009228.2:p.Arg644ThrfsTer2
NM_007299.4:c.787+1283_787+1284del NP_009230.2:n.787+1283_787+1284del
NM_007300.4:c.2070_2071del NP_009231.2:p.Arg691ThrfsTer2
NR_027676.2:n.2247_2248del