Canonical Allele Identifier: CA2739273433

Gene: BCOR

Linked Data

• ClinVar Variation Id: 2849117
• ClinVar RCV Id: RCV003623198

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.40063801_40063809del , CM000685.2:g.40063801_40063809del	GRCh38
NC_000023.10:g.39923054_39923062del , CM000685.1:g.39923054_39923062del	GRCh37
NC_000023.9:g.39807998_39808006del	NCBI36
NG_008880.1:g.118523_118531del , LRG_627:g.118523_118531del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378444.9:c.3648_3656del MANE Select	ENSP00000367705.4:p.Arg1217_Glu1219del
ENST00000406200.4:c.3648_3656del	ENSP00000384485.3:p.Arg1217_Glu1219del
ENST00000413905.6:c.3546_3554del	ENSP00000408006.2:p.Arg1183_Glu1185del
ENST00000427012.3:c.3594_3602del	ENSP00000403823.3:p.Arg1199_Glu1201del
ENST00000442018.6:c.3648_3656del	ENSP00000387552.2:p.Arg1217_Glu1219del
ENST00000615339.2:c.3648_3656del	ENSP00000483217.2:p.Arg1217_Glu1219del
ENST00000672922.2:c.3648_3656del	ENSP00000499892.2:p.Arg1217_Glu1219del
ENST00000673391.1:c.3546_3554del	ENSP00000500446.1:p.Arg1183_Glu1185del
ENST00000679513.1:c.3648_3656del	ENSP00000505761.1:p.Arg1217_Glu1219del
ENST00000680831.1:c.3648_3656del	ENSP00000505507.1:p.Arg1217_Glu1219del
ENST00000342274.8:c.3546_3554del	ENSP00000345923.4:p.Arg1183_Glu1185del
ENST00000378444.8:c.3648_3656del	ENSP00000367705.4:p.Arg1217_Glu1219del
ENST00000378455.8:c.3492_3500del	ENSP00000367716.4:p.Arg1165_Glu1167del
ENST00000378463.5:c.177_185del	ENSP00000367724.1:p.Arg60_Glu62del
ENST00000397354.7:c.3546_3554del	ENSP00000380512.3:p.Arg1183_Glu1185del
ENST00000406200.2:c.3546_3554del	ENSP00000384485.2:p.Arg1183_Glu1185del
ENST00000413905.5:c.258_266del	ENSP00000408006.1:p.Arg87_Glu89del
NM_001123383.1:c.3546_3554del , LRG_627t1:c.3546_3554del	NP_001116855.1:p.Arg1183_Glu1185del
NM_001123384.1:c.3492_3500del	NP_001116856.1:p.Arg1165_Glu1167del
NM_001123385.1:c.3648_3656del , LRG_627t2:c.3648_3656del	NP_001116857.1:p.Arg1217_Glu1219del
NM_017745.5:c.3546_3554del	NP_060215.4:p.Arg1183_Glu1185del
XM_005272616.1:c.3648_3656del	XP_005272673.1:p.Arg1217_Glu1219del
XM_005272618.2:c.3648_3656del	XP_005272675.1:p.Arg1217_Glu1219del
XM_005272619.3:c.3594_3602del	XP_005272676.1:p.Arg1199_Glu1201del
XM_005272620.3:c.3492_3500del	XP_005272677.1:p.Arg1165_Glu1167del
XM_006724536.2:c.3648_3656del	XP_006724599.1:p.Arg1217_Glu1219del
XM_011543929.1:c.3648_3656del	XP_011542231.1:p.Arg1217_Glu1219del
XM_011543930.1:c.3648_3656del	XP_011542232.1:p.Arg1217_Glu1219del
XM_011543931.1:c.3648_3656del	XP_011542233.1:p.Arg1217_Glu1219del
XM_005272618.3:c.3648_3656del	XP_005272675.1:p.Arg1217_Glu1219del
XM_005272619.4:c.3594_3602del	XP_005272676.1:p.Arg1199_Glu1201del
XM_005272620.4:c.3492_3500del	XP_005272677.1:p.Arg1165_Glu1167del
XM_006724536.3:c.3648_3656del	XP_006724599.1:p.Arg1217_Glu1219del
XM_011543929.2:c.3648_3656del	XP_011542231.1:p.Arg1217_Glu1219del
XM_011543931.2:c.3648_3656del	XP_011542233.1:p.Arg1217_Glu1219del
XM_017029615.1:c.3546_3554del	XP_016885104.1:p.Arg1183_Glu1185del
XM_017029616.2:c.3648_3656del	XP_016885105.1:p.Arg1217_Glu1219del
NM_001123384.2:c.3492_3500del	NP_001116856.1:p.Arg1165_Glu1167del
NM_001123385.2:c.3648_3656del MANE Select	NP_001116857.1:p.Arg1217_Glu1219del
NM_017745.6:c.3546_3554del	NP_060215.4:p.Arg1183_Glu1185del