Canonical Allele Identifier: CA2521745959

Gene: OGT

Linked Data

• gnomAD v4: X-71555189-GAGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71555190_71555192del , CM000685.2:g.71555190_71555192del	GRCh38
NC_000023.10:g.70775040_70775042del , CM000685.1:g.70775040_70775042del	GRCh37
NC_000023.9:g.70691765_70691767del	NCBI36
NG_015875.1:g.27129_27131del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699749.1:c.660_662del	ENSP00000514559.1:p.Arg220_Ala221delinsSer
ENST00000699750.1:c.*588_*590del	ENSP00000514560.1:n.*588_*590del
ENST00000699751.1:n.1278+598_1278+600del
ENST00000699779.1:c.*3597_*3599del	ENSP00000514585.1:n.*3597_*3599del
ENST00000699780.1:c.728+598_728+600del	ENSP00000514586.1:n.728+598_728+600del
ENST00000699781.1:c.*332+598_*332+600del	ENSP00000514587.1:n.*332+598_*332+600del
ENST00000699782.1:c.630_632del	ENSP00000514588.1:p.Arg210_Ala211delinsSer
ENST00000699783.1:c.699_701del	ENSP00000514589.1:p.Arg233_Ala234delinsSer
ENST00000699784.1:c.699_701del	ENSP00000514590.1:p.Arg233_Ala234delinsSer
ENST00000699785.1:c.*734_*736del	ENSP00000514591.1:n.*734_*736del
ENST00000373719.8:c.729_731del MANE Select	ENSP00000362824.3:p.Arg243_Ala244delinsSer
ENST00000373701.7:c.699_701del	ENSP00000362805.3:p.Arg233_Ala234delinsSer
ENST00000373719.7:c.729_731del	ENSP00000362824.3:p.Arg243_Ala244delinsSer
ENST00000455587.3:n.608_610del
ENST00000459760.1:n.106_108del
ENST00000488174.5:n.4165+598_4165+600del
NM_181672.2:c.729_731del	NP_858058.1:p.Arg243_Ala244delinsSer
NM_181673.2:c.699_701del	NP_858059.1:p.Arg233_Ala234delinsSer
XM_005262308.1:c.-220+598_-220+600del	XP_005262365.1:n.-220+598_-220+600del
XM_017029908.1:c.-220+598_-220+600del	XP_016885397.1:n.-220+598_-220+600del
XM_024452467.1:c.-220+598_-220+600del	XP_024308235.1:n.-220+598_-220+600del
NM_181672.3:c.729_731del MANE Select	NP_858058.1:p.Arg243_Ala244delinsSer
NM_181673.3:c.699_701del	NP_858059.1:p.Arg233_Ala234delinsSer