Canonical Allele Identifier: CA2781877040
Gene: UTP23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.116771292_116771295del , CM000670.2:g.116771292_116771295del GRCh38
NC_000008.10:g.117783531_117783534del , CM000670.1:g.117783531_117783534del GRCh37
NC_000008.9:g.117852712_117852715del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000309822.7:c.364-164_364-161del MANE Select ENSP00000308332.2:n.364-164_364-161del
ENST00000309822.6:c.364-164_364-161del ENSP00000308332.2:n.364-164_364-161del
ENST00000517814.1:c.363+926_363+929del ENSP00000429962.1:n.363+926_363+929del
ENST00000517820.1:c.188+4501_188+4504del ENSP00000427767.1:n.188+4501_188+4504del
ENST00000520733.5:c.45+926_45+929del ENSP00000429384.1:n.45+926_45+929del
ENST00000521071.1:c.188+4501_188+4504del ENSP00000430029.1:n.188+4501_188+4504del
ENST00000521703.5:c.188+4501_188+4504del ENSP00000428455.1:n.188+4501_188+4504del
ENST00000521974.1:n.270-164_270-161del
ENST00000524128.1:c.45+926_45+929del ENSP00000430309.1:n.45+926_45+929del
NM_032334.2:c.364-164_364-161del NP_115710.2:n.364-164_364-161del
XM_005251080.2:c.363+926_363+929del XP_005251137.2:n.363+926_363+929del
XR_928356.1:n.411+926_411+929del
XR_928357.1:n.411+926_411+929del
NM_032334.3:c.364-164_364-161del MANE Select NP_115710.2:n.364-164_364-161del