Canonical Allele Identifier: CA2688330199

Gene: UTP23

Linked Data

• gnomAD v4: 8-116772004-A-ATG

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116772004_116772005insTG , CM000670.2:g.116772004_116772005insTG	GRCh38
NC_000008.10:g.117784243_117784244insTG , CM000670.1:g.117784243_117784244insTG	GRCh37
NC_000008.9:g.117853424_117853425insTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.*162_*163insTG MANE Select	ENSP00000308332.2:n.*162_*163insTG
ENST00000309822.6:c.*162_*163insTG	ENSP00000308332.2:n.*162_*163insTG
ENST00000517814.1:c.363+1638_363+1639insTG	ENSP00000429962.1:n.363+1638_363+1639insTG
ENST00000517820.1:c.188+5213_188+5214insTG	ENSP00000427767.1:n.188+5213_188+5214insTG
ENST00000520733.5:c.45+1638_45+1639insTG	ENSP00000429384.1:n.45+1638_45+1639insTG
ENST00000521071.1:c.188+5213_188+5214insTG	ENSP00000430029.1:n.188+5213_188+5214insTG
ENST00000521703.5:c.188+5213_188+5214insTG	ENSP00000428455.1:n.188+5213_188+5214insTG
ENST00000524128.1:c.45+1638_45+1639insTG	ENSP00000430309.1:n.45+1638_45+1639insTG
NM_032334.2:c.*162_*163insTG	NP_115710.2:n.*162_*163insTG
XM_005251080.2:c.363+1638_363+1639insTG	XP_005251137.2:n.363+1638_363+1639insTG
XR_928356.1:n.411+1638_411+1639insTG
XR_928357.1:n.411+1638_411+1639insTG
NM_032334.3:c.*162_*163insTG MANE Select	NP_115710.2:n.*162_*163insTG