Canonical Allele Identifier: CA1813484399

Gene: UTP23

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771775_116771778delinsGAAA , CM000670.2:g.116771775_116771778delinsGAAA	GRCh38
NC_000008.10:g.117784014_117784017delinsGAAA , CM000670.1:g.117784014_117784017delinsGAAA	GRCh37
NC_000008.9:g.117853195_117853198delinsGAAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.683_686delinsGAAA MANE Select	ENSP00000308332.2:p.Arg228=
ENST00000309822.6:c.683_686delinsGAAA	ENSP00000308332.2:p.Arg228=
ENST00000517814.1:c.363+1409_363+1412delinsGAAA	ENSP00000429962.1:n.363+1409_363+1412delinsGAAA
ENST00000517820.1:c.188+4984_188+4987delinsGAAA	ENSP00000427767.1:n.188+4984_188+4987delinsGAAA
ENST00000520733.5:c.45+1409_45+1412delinsGAAA	ENSP00000429384.1:n.45+1409_45+1412delinsGAAA
ENST00000521071.1:c.188+4984_188+4987delinsGAAA	ENSP00000430029.1:n.188+4984_188+4987delinsGAAA
ENST00000521703.5:c.188+4984_188+4987delinsGAAA	ENSP00000428455.1:n.188+4984_188+4987delinsGAAA
ENST00000521974.1:n.589_592delinsGAAA
ENST00000524128.1:c.45+1409_45+1412delinsGAAA	ENSP00000430309.1:n.45+1409_45+1412delinsGAAA
NM_032334.2:c.683_686delinsGAAA	NP_115710.2:p.Arg228=
XM_005251080.2:c.363+1409_363+1412delinsGAAA	XP_005251137.2:n.363+1409_363+1412delinsGAAA
XR_928356.1:n.411+1409_411+1412delinsGAAA
XR_928357.1:n.411+1409_411+1412delinsGAAA
NM_032334.3:c.683_686delinsGAAA MANE Select	NP_115710.2:p.Arg228=