Canonical Allele Identifier: CA2518248245
Gene: UTP23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.116772036_116772037insT , CM000670.2:g.116772036_116772037insT GRCh38
NC_000008.10:g.117784275_117784276insT , CM000670.1:g.117784275_117784276insT GRCh37
NC_000008.9:g.117853456_117853457insT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000309822.7:c.*194_*195insT MANE Select ENSP00000308332.2:n.*194_*195insT
ENST00000309822.6:c.*194_*195insT ENSP00000308332.2:n.*194_*195insT
ENST00000517814.1:c.363+1670_363+1671insT ENSP00000429962.1:n.363+1670_363+1671insT
ENST00000517820.1:c.188+5245_188+5246insT ENSP00000427767.1:n.188+5245_188+5246insT
ENST00000520733.5:c.45+1670_45+1671insT ENSP00000429384.1:n.45+1670_45+1671insT
ENST00000521071.1:c.188+5245_188+5246insT ENSP00000430029.1:n.188+5245_188+5246insT
ENST00000521703.5:c.188+5245_188+5246insT ENSP00000428455.1:n.188+5245_188+5246insT
ENST00000524128.1:c.45+1670_45+1671insT ENSP00000430309.1:n.45+1670_45+1671insT
NM_032334.2:c.*194_*195insT NP_115710.2:n.*194_*195insT
XM_005251080.2:c.363+1670_363+1671insT XP_005251137.2:n.363+1670_363+1671insT
XR_928356.1:n.411+1670_411+1671insT
XR_928357.1:n.411+1670_411+1671insT
NM_032334.3:c.*194_*195insT MANE Select NP_115710.2:n.*194_*195insT