Canonical Allele Identifier: CA641958806

Gene: OGT

Linked Data

• dbSNP Id: rs2040333926
• gnomAD v2: X-70774987-TGTG-T
• gnomAD v3: X-71555137-TGTG-T
• gnomAD v4: X-71555137-TGTG-T
• MyVariant Identifiers: chrX:g.70774988_70774990del (hg19) ; chrX:g.71555138_71555140del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71555138_71555140del , CM000685.2:g.71555138_71555140del	GRCh38
NC_000023.10:g.70774988_70774990del , CM000685.1:g.70774988_70774990del	GRCh37
NC_000023.9:g.70691713_70691715del	NCBI36
NG_015875.1:g.27077_27079del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699749.1:c.660-52_660-50del	ENSP00000514559.1:n.660-52_660-50del
ENST00000699750.1:c.*588-52_*588-50del	ENSP00000514560.1:n.*588-52_*588-50del
ENST00000699751.1:n.1278+546_1278+548del
ENST00000699779.1:c.*3597-52_*3597-50del	ENSP00000514585.1:n.*3597-52_*3597-50del
ENST00000699780.1:c.728+546_728+548del	ENSP00000514586.1:n.728+546_728+548del
ENST00000699781.1:c.*332+546_*332+548del	ENSP00000514587.1:n.*332+546_*332+548del
ENST00000699782.1:c.630-52_630-50del	ENSP00000514588.1:n.630-52_630-50del
ENST00000699783.1:c.699-52_699-50del	ENSP00000514589.1:n.699-52_699-50del
ENST00000699784.1:c.699-52_699-50del	ENSP00000514590.1:n.699-52_699-50del
ENST00000699785.1:c.*734-52_*734-50del	ENSP00000514591.1:n.*734-52_*734-50del
ENST00000373719.8:c.729-52_729-50del MANE Select	ENSP00000362824.3:n.729-52_729-50del
ENST00000373701.7:c.699-52_699-50del	ENSP00000362805.3:n.699-52_699-50del
ENST00000373719.7:c.729-52_729-50del	ENSP00000362824.3:n.729-52_729-50del
ENST00000455587.3:n.608-52_608-50del
ENST00000459760.1:n.106-52_106-50del
ENST00000488174.5:n.4165+546_4165+548del
NM_181672.2:c.729-52_729-50del	NP_858058.1:n.729-52_729-50del
NM_181673.2:c.699-52_699-50del	NP_858059.1:n.699-52_699-50del
XM_005262308.1:c.-220+546_-220+548del	XP_005262365.1:n.-220+546_-220+548del
XM_017029908.1:c.-220+546_-220+548del	XP_016885397.1:n.-220+546_-220+548del
XM_024452467.1:c.-220+546_-220+548del	XP_024308235.1:n.-220+546_-220+548del
NM_181672.3:c.729-52_729-50del MANE Select	NP_858058.1:n.729-52_729-50del
NM_181673.3:c.699-52_699-50del	NP_858059.1:n.699-52_699-50del