Canonical Allele Identifier: CA2838278281

Gene: UTP23

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771768_116771769insTTGTTTT , CM000670.2:g.116771768_116771769insTTGTTTT	GRCh38
NC_000008.10:g.117784007_117784008insTTGTTTT , CM000670.1:g.117784007_117784008insTTGTTTT	GRCh37
NC_000008.9:g.117853188_117853189insTTGTTTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.676_677insTTGTTTT MANE Select	ENSP00000308332.2:p.Arg226IlefsTer13
ENST00000309822.6:c.676_677insTTGTTTT	ENSP00000308332.2:p.Arg226IlefsTer13
ENST00000517814.1:c.363+1402_363+1403insTTGTTTT	ENSP00000429962.1:n.363+1402_363+1403insTTGTTTT
ENST00000517820.1:c.188+4977_188+4978insTTGTTTT	ENSP00000427767.1:n.188+4977_188+4978insTTGTTTT
ENST00000520733.5:c.45+1402_45+1403insTTGTTTT	ENSP00000429384.1:n.45+1402_45+1403insTTGTTTT
ENST00000521071.1:c.188+4977_188+4978insTTGTTTT	ENSP00000430029.1:n.188+4977_188+4978insTTGTTTT
ENST00000521703.5:c.188+4977_188+4978insTTGTTTT	ENSP00000428455.1:n.188+4977_188+4978insTTGTTTT
ENST00000521974.1:n.582_583insTTGTTTT
ENST00000524128.1:c.45+1402_45+1403insTTGTTTT	ENSP00000430309.1:n.45+1402_45+1403insTTGTTTT
NM_032334.2:c.676_677insTTGTTTT	NP_115710.2:p.Arg226IlefsTer13
XM_005251080.2:c.363+1402_363+1403insTTGTTTT	XP_005251137.2:n.363+1402_363+1403insTTGTTTT
XR_928356.1:n.411+1402_411+1403insTTGTTTT
XR_928357.1:n.411+1402_411+1403insTTGTTTT
NM_032334.3:c.676_677insTTGTTTT MANE Select	NP_115710.2:p.Arg226IlefsTer13