Canonical Allele Identifier: CA4852618
Gene: UTP23 HGNC NCBI

Linked Data

dbSNP Id: rs753995332

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.116771707del , CM000670.2:g.116771707del GRCh38
NC_000008.10:g.117783946del , CM000670.1:g.117783946del GRCh37
NC_000008.9:g.117853127del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000309822.7:c.615del MANE Select ENSP00000308332.2:p.Ser206ValfsTer3
ENST00000309822.6:c.615del ENSP00000308332.2:p.Ser206ValfsTer3
ENST00000517814.1:c.363+1341del ENSP00000429962.1:n.363+1341del
ENST00000517820.1:c.188+4916del ENSP00000427767.1:n.188+4916del
ENST00000520733.5:c.45+1341del ENSP00000429384.1:n.45+1341del
ENST00000521071.1:c.188+4916del ENSP00000430029.1:n.188+4916del
ENST00000521703.5:c.188+4916del ENSP00000428455.1:n.188+4916del
ENST00000521974.1:n.521del
ENST00000524128.1:c.45+1341del ENSP00000430309.1:n.45+1341del
NM_032334.2:c.615del NP_115710.2:p.Ser206ValfsTer3
XM_005251080.2:c.363+1341del XP_005251137.2:n.363+1341del
XR_928356.1:n.411+1341del
XR_928357.1:n.411+1341del
NM_032334.3:c.615del MANE Select NP_115710.2:p.Ser206ValfsTer3