Canonical Allele Identifier: CA1813483967

Gene: UTP23

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771495_116771499delinsGTTCC , CM000670.2:g.116771495_116771499delinsGTTCC	GRCh38
NC_000008.10:g.117783734_117783738delinsGTTCC , CM000670.1:g.117783734_117783738delinsGTTCC	GRCh37
NC_000008.9:g.117852915_117852919delinsGTTCC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.403_407delinsGTTCC MANE Select	ENSP00000308332.2:p.Val135=
ENST00000309822.6:c.403_407delinsGTTCC	ENSP00000308332.2:p.Val135=
ENST00000517814.1:c.363+1129_363+1133delinsGTTCC	ENSP00000429962.1:n.363+1129_363+1133delinsGTTCC
ENST00000517820.1:c.188+4704_188+4708delinsGTTCC	ENSP00000427767.1:n.188+4704_188+4708delinsGTTCC
ENST00000520733.5:c.45+1129_45+1133delinsGTTCC	ENSP00000429384.1:n.45+1129_45+1133delinsGTTCC
ENST00000521071.1:c.188+4704_188+4708delinsGTTCC	ENSP00000430029.1:n.188+4704_188+4708delinsGTTCC
ENST00000521703.5:c.188+4704_188+4708delinsGTTCC	ENSP00000428455.1:n.188+4704_188+4708delinsGTTCC
ENST00000521974.1:n.309_313delinsGTTCC
ENST00000524128.1:c.45+1129_45+1133delinsGTTCC	ENSP00000430309.1:n.45+1129_45+1133delinsGTTCC
NM_032334.2:c.403_407delinsGTTCC	NP_115710.2:p.Val135=
XM_005251080.2:c.363+1129_363+1133delinsGTTCC	XP_005251137.2:n.363+1129_363+1133delinsGTTCC
XR_928356.1:n.411+1129_411+1133delinsGTTCC
XR_928357.1:n.411+1129_411+1133delinsGTTCC
NM_032334.3:c.403_407delinsGTTCC MANE Select	NP_115710.2:p.Val135=