Canonical Allele Identifier: CA331038190

Gene: OGT

Linked Data

• dbSNP Id: rs965790099
• gnomAD v2: X-70775565-ACT-A
• gnomAD v3: X-71555715-ACT-A
• gnomAD v4: X-71555715-ACT-A
• MyVariant Identifiers: chrX:g.70775566_70775567del (hg19) ; chrX:g.71555716_71555717del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71555718_71555719del , CM000685.2:g.71555718_71555719del	GRCh38
NC_000023.10:g.70775568_70775569del , CM000685.1:g.70775568_70775569del	GRCh37
NC_000023.9:g.70692293_70692294del	NCBI36
NG_015875.1:g.27657_27658del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699749.1:c.856-236_856-235del	ENSP00000514559.1:n.856-236_856-235del
ENST00000699750.1:c.*784-236_*784-235del	ENSP00000514560.1:n.*784-236_*784-235del
ENST00000699751.1:n.1279-962_1279-961del
ENST00000699779.1:c.*3793-236_*3793-235del	ENSP00000514585.1:n.*3793-236_*3793-235del
ENST00000699780.1:c.729-236_729-235del	ENSP00000514586.1:n.729-236_729-235del
ENST00000699781.1:c.*333-236_*333-235del	ENSP00000514587.1:n.*333-236_*333-235del
ENST00000699782.1:c.826-236_826-235del	ENSP00000514588.1:n.826-236_826-235del
ENST00000699783.1:c.895-236_895-235del	ENSP00000514589.1:n.895-236_895-235del
ENST00000699784.1:c.895-236_895-235del	ENSP00000514590.1:n.895-236_895-235del
ENST00000699785.1:c.*930-236_*930-235del	ENSP00000514591.1:n.*930-236_*930-235del
ENST00000373719.8:c.925-236_925-235del MANE Select	ENSP00000362824.3:n.925-236_925-235del
ENST00000373701.7:c.895-236_895-235del	ENSP00000362805.3:n.895-236_895-235del
ENST00000373719.7:c.925-236_925-235del	ENSP00000362824.3:n.925-236_925-235del
ENST00000459760.1:n.302-236_302-235del
ENST00000488174.5:n.4166-236_4166-235del
NM_181672.2:c.925-236_925-235del	NP_858058.1:n.925-236_925-235del
NM_181673.2:c.895-236_895-235del	NP_858059.1:n.895-236_895-235del
XM_005262308.1:c.-219-236_-219-235del	XP_005262365.1:n.-219-236_-219-235del
XM_017029908.1:c.-219-236_-219-235del	XP_016885397.1:n.-219-236_-219-235del
XM_024452467.1:c.-219-236_-219-235del	XP_024308235.1:n.-219-236_-219-235del
NM_181672.3:c.925-236_925-235del MANE Select	NP_858058.1:n.925-236_925-235del
NM_181673.3:c.895-236_895-235del	NP_858059.1:n.895-236_895-235del