Canonical Allele Identifier: CA2500505702

Gene: UTP23

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116772042_116772043insTTTT , CM000670.2:g.116772042_116772043insTTTT	GRCh38
NC_000008.10:g.117784281_117784282insTTTT , CM000670.1:g.117784281_117784282insTTTT	GRCh37
NC_000008.9:g.117853462_117853463insTTTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.*200_*201insTTTT MANE Select	ENSP00000308332.2:n.*200_*201insTTTT
ENST00000309822.6:c.*200_*201insTTTT	ENSP00000308332.2:n.*200_*201insTTTT
ENST00000517814.1:c.363+1676_363+1677insTTTT	ENSP00000429962.1:n.363+1676_363+1677insTTTT
ENST00000517820.1:c.188+5251_188+5252insTTTT	ENSP00000427767.1:n.188+5251_188+5252insTTTT
ENST00000520733.5:c.45+1676_45+1677insTTTT	ENSP00000429384.1:n.45+1676_45+1677insTTTT
ENST00000521071.1:c.188+5251_188+5252insTTTT	ENSP00000430029.1:n.188+5251_188+5252insTTTT
ENST00000521703.5:c.188+5251_188+5252insTTTT	ENSP00000428455.1:n.188+5251_188+5252insTTTT
ENST00000524128.1:c.45+1676_45+1677insTTTT	ENSP00000430309.1:n.45+1676_45+1677insTTTT
NM_032334.2:c.*200_*201insTTTT	NP_115710.2:n.*200_*201insTTTT
XM_005251080.2:c.363+1676_363+1677insTTTT	XP_005251137.2:n.363+1676_363+1677insTTTT
XR_928356.1:n.411+1676_411+1677insTTTT
XR_928357.1:n.411+1676_411+1677insTTTT
NM_032334.3:c.*200_*201insTTTT MANE Select	NP_115710.2:n.*200_*201insTTTT