Canonical Allele Identifier: CA1813484466

Gene: UTP23

Linked Data

• dbSNP Id: rs1815660298

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771815_116771816insTTTTCTTTTCTTTT , CM000670.2:g.116771815_116771816insTTTTCTTTTCTTTT	GRCh38
NC_000008.10:g.117784054_117784055insTTTTCTTTTCTTTT , CM000670.1:g.117784054_117784055insTTTTCTTTTCTTTT	GRCh37
NC_000008.9:g.117853235_117853236insTTTTCTTTTCTTTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.723_724insTTTTCTTTTCTTTT MANE Select	ENSP00000308332.2:p.Glu242PhefsTer?
ENST00000309822.6:c.723_724insTTTTCTTTTCTTTT	ENSP00000308332.2:p.Glu242PhefsTer?
ENST00000517814.1:c.363+1449_363+1450insTTTTCTTTTCTTTT	ENSP00000429962.1:n.363+1449_363+1450insTTTTCTTTTCTTTT
ENST00000517820.1:c.188+5024_188+5025insTTTTCTTTTCTTTT	ENSP00000427767.1:n.188+5024_188+5025insTTTTCTTTTCTTTT
ENST00000520733.5:c.45+1449_45+1450insTTTTCTTTTCTTTT	ENSP00000429384.1:n.45+1449_45+1450insTTTTCTTTTCTTTT
ENST00000521071.1:c.188+5024_188+5025insTTTTCTTTTCTTTT	ENSP00000430029.1:n.188+5024_188+5025insTTTTCTTTTCTTTT
ENST00000521703.5:c.188+5024_188+5025insTTTTCTTTTCTTTT	ENSP00000428455.1:n.188+5024_188+5025insTTTTCTTTTCTTTT
ENST00000524128.1:c.45+1449_45+1450insTTTTCTTTTCTTTT	ENSP00000430309.1:n.45+1449_45+1450insTTTTCTTTTCTTTT
NM_032334.2:c.723_724insTTTTCTTTTCTTTT	NP_115710.2:p.Glu242PhefsTer?
XM_005251080.2:c.363+1449_363+1450insTTTTCTTTTCTTTT	XP_005251137.2:n.363+1449_363+1450insTTTTCTTTTCTTTT
XR_928356.1:n.411+1449_411+1450insTTTTCTTTTCTTTT
XR_928357.1:n.411+1449_411+1450insTTTTCTTTTCTTTT
NM_032334.3:c.723_724insTTTTCTTTTCTTTT MANE Select	NP_115710.2:p.Glu242PhefsTer?