Canonical Allele Identifier: CA2564827549

Gene: UTP23

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771481_116771482insGA , CM000670.2:g.116771481_116771482insGA	GRCh38
NC_000008.10:g.117783720_117783721insGA , CM000670.1:g.117783720_117783721insGA	GRCh37
NC_000008.9:g.117852901_117852902insGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.389_390insGA MANE Select	ENSP00000308332.2:p.Lys132ArgfsTer28
ENST00000309822.6:c.389_390insGA	ENSP00000308332.2:p.Lys132ArgfsTer28
ENST00000517814.1:c.363+1115_363+1116insGA	ENSP00000429962.1:n.363+1115_363+1116insGA
ENST00000517820.1:c.188+4690_188+4691insGA	ENSP00000427767.1:n.188+4690_188+4691insGA
ENST00000520733.5:c.45+1115_45+1116insGA	ENSP00000429384.1:n.45+1115_45+1116insGA
ENST00000521071.1:c.188+4690_188+4691insGA	ENSP00000430029.1:n.188+4690_188+4691insGA
ENST00000521703.5:c.188+4690_188+4691insGA	ENSP00000428455.1:n.188+4690_188+4691insGA
ENST00000521974.1:n.295_296insGA
ENST00000524128.1:c.45+1115_45+1116insGA	ENSP00000430309.1:n.45+1115_45+1116insGA
NM_032334.2:c.389_390insGA	NP_115710.2:p.Lys132ArgfsTer28
XM_005251080.2:c.363+1115_363+1116insGA	XP_005251137.2:n.363+1115_363+1116insGA
XR_928356.1:n.411+1115_411+1116insGA
XR_928357.1:n.411+1115_411+1116insGA
NM_032334.3:c.389_390insGA MANE Select	NP_115710.2:p.Lys132ArgfsTer28