Canonical Allele Identifier: CA1813484228

Gene: UTP23

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771682_116771683delinsAG , CM000670.2:g.116771682_116771683delinsAG	GRCh38
NC_000008.10:g.117783921_117783922delinsAG , CM000670.1:g.117783921_117783922delinsAG	GRCh37
NC_000008.9:g.117853102_117853103delinsAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.590_591delinsAG MANE Select	ENSP00000308332.2:p.Lys197=
ENST00000309822.6:c.590_591delinsAG	ENSP00000308332.2:p.Lys197=
ENST00000517814.1:c.363+1316_363+1317delinsAG	ENSP00000429962.1:n.363+1316_363+1317delinsAG
ENST00000517820.1:c.188+4891_188+4892delinsAG	ENSP00000427767.1:n.188+4891_188+4892delinsAG
ENST00000520733.5:c.45+1316_45+1317delinsAG	ENSP00000429384.1:n.45+1316_45+1317delinsAG
ENST00000521071.1:c.188+4891_188+4892delinsAG	ENSP00000430029.1:n.188+4891_188+4892delinsAG
ENST00000521703.5:c.188+4891_188+4892delinsAG	ENSP00000428455.1:n.188+4891_188+4892delinsAG
ENST00000521974.1:n.496_497delinsAG
ENST00000524128.1:c.45+1316_45+1317delinsAG	ENSP00000430309.1:n.45+1316_45+1317delinsAG
NM_032334.2:c.590_591delinsAG	NP_115710.2:p.Lys197=
XM_005251080.2:c.363+1316_363+1317delinsAG	XP_005251137.2:n.363+1316_363+1317delinsAG
XR_928356.1:n.411+1316_411+1317delinsAG
XR_928357.1:n.411+1316_411+1317delinsAG
NM_032334.3:c.590_591delinsAG MANE Select	NP_115710.2:p.Lys197=