Canonical Allele Identifier: CA1813484343

Gene: UTP23

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771754_116771755delinsCT , CM000670.2:g.116771754_116771755delinsCT	GRCh38
NC_000008.10:g.117783993_117783994delinsCT , CM000670.1:g.117783993_117783994delinsCT	GRCh37
NC_000008.9:g.117853174_117853175delinsCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.662_663delinsCT MANE Select	ENSP00000308332.2:p.Ala221=
ENST00000309822.6:c.662_663delinsCT	ENSP00000308332.2:p.Ala221=
ENST00000517814.1:c.363+1388_363+1389delinsCT	ENSP00000429962.1:n.363+1388_363+1389delinsCT
ENST00000517820.1:c.188+4963_188+4964delinsCT	ENSP00000427767.1:n.188+4963_188+4964delinsCT
ENST00000520733.5:c.45+1388_45+1389delinsCT	ENSP00000429384.1:n.45+1388_45+1389delinsCT
ENST00000521071.1:c.188+4963_188+4964delinsCT	ENSP00000430029.1:n.188+4963_188+4964delinsCT
ENST00000521703.5:c.188+4963_188+4964delinsCT	ENSP00000428455.1:n.188+4963_188+4964delinsCT
ENST00000521974.1:n.568_569delinsCT
ENST00000524128.1:c.45+1388_45+1389delinsCT	ENSP00000430309.1:n.45+1388_45+1389delinsCT
NM_032334.2:c.662_663delinsCT	NP_115710.2:p.Ala221=
XM_005251080.2:c.363+1388_363+1389delinsCT	XP_005251137.2:n.363+1388_363+1389delinsCT
XR_928356.1:n.411+1388_411+1389delinsCT
XR_928357.1:n.411+1388_411+1389delinsCT
NM_032334.3:c.662_663delinsCT MANE Select	NP_115710.2:p.Ala221=