Canonical Allele Identifier: CA846142951

Gene: UTP23

Linked Data

• dbSNP Id: rs1382862714
• gnomAD v4: 8-116771984-AC-A
• MyVariant Identifiers: chr8:g.117784224del (hg19) ; chr8:g.116771985del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771986del , CM000670.2:g.116771986del	GRCh38
NC_000008.10:g.117784225del , CM000670.1:g.117784225del	GRCh37
NC_000008.9:g.117853406del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.*144del MANE Select	ENSP00000308332.2:n.*144del
ENST00000309822.6:c.*144del	ENSP00000308332.2:n.*144del
ENST00000517814.1:c.363+1620del	ENSP00000429962.1:n.363+1620del
ENST00000517820.1:c.188+5195del	ENSP00000427767.1:n.188+5195del
ENST00000520733.5:c.45+1620del	ENSP00000429384.1:n.45+1620del
ENST00000521071.1:c.188+5195del	ENSP00000430029.1:n.188+5195del
ENST00000521703.5:c.188+5195del	ENSP00000428455.1:n.188+5195del
ENST00000524128.1:c.45+1620del	ENSP00000430309.1:n.45+1620del
NM_032334.2:c.*144del	NP_115710.2:n.*144del
XM_005251080.2:c.363+1620del	XP_005251137.2:n.363+1620del
XR_928356.1:n.411+1620del
XR_928357.1:n.411+1620del
NM_032334.3:c.*144del MANE Select	NP_115710.2:n.*144del