Canonical Allele Identifier: CA1813483974

Gene: UTP23

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771499_116771500delinsCT , CM000670.2:g.116771499_116771500delinsCT	GRCh38
NC_000008.10:g.117783738_117783739delinsCT , CM000670.1:g.117783738_117783739delinsCT	GRCh37
NC_000008.9:g.117852919_117852920delinsCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.407_408delinsCT MANE Select	ENSP00000308332.2:p.Pro136=
ENST00000309822.6:c.407_408delinsCT	ENSP00000308332.2:p.Pro136=
ENST00000517814.1:c.363+1133_363+1134delinsCT	ENSP00000429962.1:n.363+1133_363+1134delinsCT
ENST00000517820.1:c.188+4708_188+4709delinsCT	ENSP00000427767.1:n.188+4708_188+4709delinsCT
ENST00000520733.5:c.45+1133_45+1134delinsCT	ENSP00000429384.1:n.45+1133_45+1134delinsCT
ENST00000521071.1:c.188+4708_188+4709delinsCT	ENSP00000430029.1:n.188+4708_188+4709delinsCT
ENST00000521703.5:c.188+4708_188+4709delinsCT	ENSP00000428455.1:n.188+4708_188+4709delinsCT
ENST00000521974.1:n.313_314delinsCT
ENST00000524128.1:c.45+1133_45+1134delinsCT	ENSP00000430309.1:n.45+1133_45+1134delinsCT
NM_032334.2:c.407_408delinsCT	NP_115710.2:p.Pro136=
XM_005251080.2:c.363+1133_363+1134delinsCT	XP_005251137.2:n.363+1133_363+1134delinsCT
XR_928356.1:n.411+1133_411+1134delinsCT
XR_928357.1:n.411+1133_411+1134delinsCT
NM_032334.3:c.407_408delinsCT MANE Select	NP_115710.2:p.Pro136=