Canonical Allele Identifier: CA1813483947

Gene: UTP23

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771478_116771479delinsTA , CM000670.2:g.116771478_116771479delinsTA	GRCh38
NC_000008.10:g.117783717_117783718delinsTA , CM000670.1:g.117783717_117783718delinsTA	GRCh37
NC_000008.9:g.117852898_117852899delinsTA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.386_387delinsTA MANE Select	ENSP00000308332.2:p.Val129=
ENST00000309822.6:c.386_387delinsTA	ENSP00000308332.2:p.Val129=
ENST00000517814.1:c.363+1112_363+1113delinsTA	ENSP00000429962.1:n.363+1112_363+1113delinsTA
ENST00000517820.1:c.188+4687_188+4688delinsTA	ENSP00000427767.1:n.188+4687_188+4688delinsTA
ENST00000520733.5:c.45+1112_45+1113delinsTA	ENSP00000429384.1:n.45+1112_45+1113delinsTA
ENST00000521071.1:c.188+4687_188+4688delinsTA	ENSP00000430029.1:n.188+4687_188+4688delinsTA
ENST00000521703.5:c.188+4687_188+4688delinsTA	ENSP00000428455.1:n.188+4687_188+4688delinsTA
ENST00000521974.1:n.292_293delinsTA
ENST00000524128.1:c.45+1112_45+1113delinsTA	ENSP00000430309.1:n.45+1112_45+1113delinsTA
NM_032334.2:c.386_387delinsTA	NP_115710.2:p.Val129=
XM_005251080.2:c.363+1112_363+1113delinsTA	XP_005251137.2:n.363+1112_363+1113delinsTA
XR_928356.1:n.411+1112_411+1113delinsTA
XR_928357.1:n.411+1112_411+1113delinsTA
NM_032334.3:c.386_387delinsTA MANE Select	NP_115710.2:p.Val129=