Canonical Allele Identifier: CA273734
Gene: BCOR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.40062262_40062266del , CM000685.2:g.40062262_40062266del GRCh38
NC_000023.10:g.39921515_39921519del , CM000685.1:g.39921515_39921519del GRCh37
NC_000023.9:g.39806459_39806463del NCBI36
NG_008880.1:g.120067_120071del , LRG_627:g.120067_120071del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378444.9:c.4304_4308del MANE Select ENSP00000367705.4:p.Pro1435LeufsTer24
ENST00000406200.4:c.4304_4308del ENSP00000384485.3:p.Pro1435LeufsTer24
ENST00000413905.6:c.4202_4206del ENSP00000408006.2:p.Pro1401LeufsTer24
ENST00000427012.3:c.4250_4254del ENSP00000403823.3:p.Pro1417LeufsTer24
ENST00000442018.6:c.4304_4308del ENSP00000387552.2:p.Pro1435LeufsTer24
ENST00000615339.2:c.4304_4308del ENSP00000483217.2:p.Pro1435LeufsTer24
ENST00000672922.2:c.4304_4308del ENSP00000499892.2:p.Pro1435LeufsTer24
ENST00000673391.1:c.4202_4206del ENSP00000500446.1:p.Pro1401LeufsTer24
ENST00000679513.1:c.4304_4308del ENSP00000505761.1:p.Pro1435LeufsTer24
ENST00000680831.1:c.4304_4308del ENSP00000505507.1:p.Pro1435LeufsTer24
ENST00000342274.8:c.4202_4206del ENSP00000345923.4:p.Pro1401LeufsTer24
ENST00000378444.8:c.4304_4308del ENSP00000367705.4:p.Pro1435LeufsTer24
ENST00000378455.8:c.4148_4152del ENSP00000367716.4:p.Pro1383LeufsTer24
ENST00000378463.5:c.833_837del ENSP00000367724.1:p.Pro278LeufsTer24
ENST00000397354.7:c.4202_4206del ENSP00000380512.3:p.Pro1401LeufsTer24
ENST00000413905.5:c.914_918del ENSP00000408006.1:p.Pro305LeufsTer24
ENST00000427012.1:c.388_392del
ENST00000442018.5:c.323_327del ENSP00000387552.1:p.Pro108LeufsTer24
NM_001123383.1:c.4202_4206del , LRG_627t1:c.4202_4206del NP_001116855.1:p.Pro1401LeufsTer24
NM_001123384.1:c.4148_4152del NP_001116856.1:p.Pro1383LeufsTer24
NM_001123385.1:c.4304_4308del , LRG_627t2:c.4304_4308del NP_001116857.1:p.Pro1435LeufsTer24
NM_017745.5:c.4202_4206del NP_060215.4:p.Pro1401LeufsTer24
XM_005272616.1:c.4304_4308del XP_005272673.1:p.Pro1435LeufsTer24
XM_005272618.2:c.4304_4308del XP_005272675.1:p.Pro1435LeufsTer24
XM_005272619.3:c.4250_4254del XP_005272676.1:p.Pro1417LeufsTer24
XM_005272620.3:c.4148_4152del XP_005272677.1:p.Pro1383LeufsTer24
XM_006724536.2:c.4304_4308del XP_006724599.1:p.Pro1435LeufsTer24
XM_011543929.1:c.4304_4308del XP_011542231.1:p.Pro1435LeufsTer24
XM_011543930.1:c.4304_4308del XP_011542232.1:p.Pro1435LeufsTer24
XM_011543931.1:c.4304_4308del XP_011542233.1:p.Pro1435LeufsTer24
XM_005272618.3:c.4304_4308del XP_005272675.1:p.Pro1435LeufsTer24
XM_005272619.4:c.4250_4254del XP_005272676.1:p.Pro1417LeufsTer24
XM_005272620.4:c.4148_4152del XP_005272677.1:p.Pro1383LeufsTer24
XM_006724536.3:c.4304_4308del XP_006724599.1:p.Pro1435LeufsTer24
XM_011543929.2:c.4304_4308del XP_011542231.1:p.Pro1435LeufsTer24
XM_011543931.2:c.4304_4308del XP_011542233.1:p.Pro1435LeufsTer24
XM_017029615.1:c.4202_4206del XP_016885104.1:p.Pro1401LeufsTer24
XM_017029616.2:c.4304_4308del XP_016885105.1:p.Pro1435LeufsTer24
NM_001123384.2:c.4148_4152del NP_001116856.1:p.Pro1383LeufsTer24
NM_001123385.2:c.4304_4308del MANE Select NP_001116857.1:p.Pro1435LeufsTer24
NM_017745.6:c.4202_4206del NP_060215.4:p.Pro1401LeufsTer24