Canonical Allele Identifier: CA1813484023

Gene: UTP23

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771535_116771536delinsAC , CM000670.2:g.116771535_116771536delinsAC	GRCh38
NC_000008.10:g.117783774_117783775delinsAC , CM000670.1:g.117783774_117783775delinsAC	GRCh37
NC_000008.9:g.117852955_117852956delinsAC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.443_444delinsAC MANE Select	ENSP00000308332.2:p.Asp148=
ENST00000309822.6:c.443_444delinsAC	ENSP00000308332.2:p.Asp148=
ENST00000517814.1:c.363+1169_363+1170delinsAC	ENSP00000429962.1:n.363+1169_363+1170delinsAC
ENST00000517820.1:c.188+4744_188+4745delinsAC	ENSP00000427767.1:n.188+4744_188+4745delinsAC
ENST00000520733.5:c.45+1169_45+1170delinsAC	ENSP00000429384.1:n.45+1169_45+1170delinsAC
ENST00000521071.1:c.188+4744_188+4745delinsAC	ENSP00000430029.1:n.188+4744_188+4745delinsAC
ENST00000521703.5:c.188+4744_188+4745delinsAC	ENSP00000428455.1:n.188+4744_188+4745delinsAC
ENST00000521974.1:n.349_350delinsAC
ENST00000524128.1:c.45+1169_45+1170delinsAC	ENSP00000430309.1:n.45+1169_45+1170delinsAC
NM_032334.2:c.443_444delinsAC	NP_115710.2:p.Asp148=
XM_005251080.2:c.363+1169_363+1170delinsAC	XP_005251137.2:n.363+1169_363+1170delinsAC
XR_928356.1:n.411+1169_411+1170delinsAC
XR_928357.1:n.411+1169_411+1170delinsAC
NM_032334.3:c.443_444delinsAC MANE Select	NP_115710.2:p.Asp148=