Canonical Allele Identifier: CA10604753
Gene: BCOR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.40063037_40063038del , CM000685.2:g.40063037_40063038del GRCh38
NC_000023.10:g.39922290_39922291del , CM000685.1:g.39922290_39922291del GRCh37
NC_000023.9:g.39807234_39807235del NCBI36
NG_008880.1:g.119294_119295del , LRG_627:g.119294_119295del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378444.9:c.3883_3884del MANE Select ENSP00000367705.4:p.Leu1296PhefsTer29
ENST00000406200.4:c.3883_3884del ENSP00000384485.3:p.Leu1296PhefsTer29
ENST00000413905.6:c.3781_3782del ENSP00000408006.2:p.Leu1262PhefsTer29
ENST00000427012.3:c.3829_3830del ENSP00000403823.3:p.Leu1278PhefsTer29
ENST00000442018.6:c.3883_3884del ENSP00000387552.2:p.Leu1296PhefsTer29
ENST00000615339.2:c.3883_3884del ENSP00000483217.2:p.Leu1296PhefsTer29
ENST00000672922.2:c.3883_3884del ENSP00000499892.2:p.Leu1296PhefsTer29
ENST00000673391.1:c.3781_3782del ENSP00000500446.1:p.Leu1262PhefsTer29
ENST00000679513.1:c.3883_3884del ENSP00000505761.1:p.Leu1296PhefsTer29
ENST00000680831.1:c.3883_3884del ENSP00000505507.1:p.Leu1296PhefsTer29
ENST00000342274.8:c.3781_3782del ENSP00000345923.4:p.Leu1262PhefsTer29
ENST00000378444.8:c.3883_3884del ENSP00000367705.4:p.Leu1296PhefsTer29
ENST00000378455.8:c.3727_3728del ENSP00000367716.4:p.Leu1244PhefsTer29
ENST00000378463.5:c.412_413del ENSP00000367724.1:p.Leu139PhefsTer29
ENST00000397354.7:c.3781_3782del ENSP00000380512.3:p.Leu1262PhefsTer29
ENST00000406200.2:c.3781_3782del ENSP00000384485.2:p.Leu1262PhefsTer?
ENST00000413905.5:c.493_494del ENSP00000408006.1:p.Leu166PhefsTer29
NM_001123383.1:c.3781_3782del , LRG_627t1:c.3781_3782del NP_001116855.1:p.Leu1262PhefsTer29
NM_001123384.1:c.3727_3728del NP_001116856.1:p.Leu1244PhefsTer29
NM_001123385.1:c.3883_3884del , LRG_627t2:c.3883_3884del NP_001116857.1:p.Leu1296PhefsTer29
NM_017745.5:c.3781_3782del NP_060215.4:p.Leu1262PhefsTer29
XM_005272616.1:c.3883_3884del XP_005272673.1:p.Leu1296PhefsTer29
XM_005272618.2:c.3883_3884del XP_005272675.1:p.Leu1296PhefsTer29
XM_005272619.3:c.3829_3830del XP_005272676.1:p.Leu1278PhefsTer29
XM_005272620.3:c.3727_3728del XP_005272677.1:p.Leu1244PhefsTer29
XM_006724536.2:c.3883_3884del XP_006724599.1:p.Leu1296PhefsTer29
XM_011543929.1:c.3883_3884del XP_011542231.1:p.Leu1296PhefsTer29
XM_011543930.1:c.3883_3884del XP_011542232.1:p.Leu1296PhefsTer29
XM_011543931.1:c.3883_3884del XP_011542233.1:p.Leu1296PhefsTer29
XM_005272618.3:c.3883_3884del XP_005272675.1:p.Leu1296PhefsTer29
XM_005272619.4:c.3829_3830del XP_005272676.1:p.Leu1278PhefsTer29
XM_005272620.4:c.3727_3728del XP_005272677.1:p.Leu1244PhefsTer29
XM_006724536.3:c.3883_3884del XP_006724599.1:p.Leu1296PhefsTer29
XM_011543929.2:c.3883_3884del XP_011542231.1:p.Leu1296PhefsTer29
XM_011543931.2:c.3883_3884del XP_011542233.1:p.Leu1296PhefsTer29
XM_017029615.1:c.3781_3782del XP_016885104.1:p.Leu1262PhefsTer29
XM_017029616.2:c.3883_3884del XP_016885105.1:p.Leu1296PhefsTer29
NM_001123384.2:c.3727_3728del NP_001116856.1:p.Leu1244PhefsTer29
NM_001123385.2:c.3883_3884del MANE Select NP_001116857.1:p.Leu1296PhefsTer29
NM_017745.6:c.3781_3782del NP_060215.4:p.Leu1262PhefsTer29