Canonical Allele Identifier: CA278830
Gene: BCOR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.40062174_40062177del , CM000685.2:g.40062174_40062177del GRCh38
NC_000023.10:g.39921427_39921430del , CM000685.1:g.39921427_39921430del GRCh37
NC_000023.9:g.39806371_39806374del NCBI36
NG_008880.1:g.120153_120156del , LRG_627:g.120153_120156del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378444.9:c.4390_4393del MANE Select ENSP00000367705.4:p.Glu1464ProfsTer19
ENST00000406200.4:c.4390_4393del ENSP00000384485.3:p.Glu1464ProfsTer19
ENST00000413905.6:c.4288_4291del ENSP00000408006.2:p.Glu1430ProfsTer19
ENST00000427012.3:c.4336_4339del ENSP00000403823.3:p.Glu1446ProfsTer19
ENST00000442018.6:c.4390_4393del ENSP00000387552.2:p.Glu1464ProfsTer19
ENST00000615339.2:c.4390_4393del ENSP00000483217.2:p.Glu1464ProfsTer19
ENST00000672922.2:c.4390_4393del ENSP00000499892.2:p.Glu1464ProfsTer19
ENST00000673391.1:c.4288_4291del ENSP00000500446.1:p.Glu1430ProfsTer19
ENST00000679513.1:c.4390_4393del ENSP00000505761.1:p.Glu1464ProfsTer19
ENST00000680831.1:c.4390_4393del ENSP00000505507.1:p.Glu1464ProfsTer19
ENST00000342274.8:c.4288_4291del ENSP00000345923.4:p.Glu1430ProfsTer19
ENST00000378444.8:c.4390_4393del ENSP00000367705.4:p.Glu1464ProfsTer19
ENST00000378455.8:c.4234_4237del ENSP00000367716.4:p.Glu1412ProfsTer19
ENST00000378463.5:c.919_922del ENSP00000367724.1:p.Glu307ProfsTer19
ENST00000397354.7:c.4288_4291del ENSP00000380512.3:p.Glu1430ProfsTer19
ENST00000413905.5:c.1000_1003del ENSP00000408006.1:p.Glu334ProfsTer19
ENST00000427012.1:c.474_477del
ENST00000442018.5:c.409_412del ENSP00000387552.1:p.Glu137ProfsTer19
NM_001123383.1:c.4288_4291del , LRG_627t1:c.4288_4291del NP_001116855.1:p.Glu1430ProfsTer19
NM_001123384.1:c.4234_4237del NP_001116856.1:p.Glu1412ProfsTer19
NM_001123385.1:c.4390_4393del , LRG_627t2:c.4390_4393del NP_001116857.1:p.Glu1464ProfsTer19
NM_017745.5:c.4288_4291del NP_060215.4:p.Glu1430ProfsTer19
XM_005272616.1:c.4390_4393del XP_005272673.1:p.Glu1464ProfsTer19
XM_005272618.2:c.4390_4393del XP_005272675.1:p.Glu1464ProfsTer19
XM_005272619.3:c.4336_4339del XP_005272676.1:p.Glu1446ProfsTer19
XM_005272620.3:c.4234_4237del XP_005272677.1:p.Glu1412ProfsTer19
XM_006724536.2:c.4390_4393del XP_006724599.1:p.Glu1464ProfsTer19
XM_011543929.1:c.4390_4393del XP_011542231.1:p.Glu1464ProfsTer19
XM_011543930.1:c.4390_4393del XP_011542232.1:p.Glu1464ProfsTer19
XM_011543931.1:c.4390_4393del XP_011542233.1:p.Glu1464ProfsTer19
XM_005272618.3:c.4390_4393del XP_005272675.1:p.Glu1464ProfsTer19
XM_005272619.4:c.4336_4339del XP_005272676.1:p.Glu1446ProfsTer19
XM_005272620.4:c.4234_4237del XP_005272677.1:p.Glu1412ProfsTer19
XM_006724536.3:c.4390_4393del XP_006724599.1:p.Glu1464ProfsTer19
XM_011543929.2:c.4390_4393del XP_011542231.1:p.Glu1464ProfsTer19
XM_011543931.2:c.4390_4393del XP_011542233.1:p.Glu1464ProfsTer19
XM_017029615.1:c.4288_4291del XP_016885104.1:p.Glu1430ProfsTer19
XM_017029616.2:c.4390_4393del XP_016885105.1:p.Glu1464ProfsTer19
NM_001123384.2:c.4234_4237del NP_001116856.1:p.Glu1412ProfsTer19
NM_001123385.2:c.4390_4393del MANE Select NP_001116857.1:p.Glu1464ProfsTer19
NM_017745.6:c.4288_4291del NP_060215.4:p.Glu1430ProfsTer19