Canonical Allele Identifier: CA2688330221

Gene: UTP23

Linked Data

• gnomAD v4: 8-116772020-T-TAA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116772023_116772024dup , CM000670.2:g.116772023_116772024dup	GRCh38
NC_000008.10:g.117784262_117784263dup , CM000670.1:g.117784262_117784263dup	GRCh37
NC_000008.9:g.117853443_117853444dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.*181_*182dup MANE Select	ENSP00000308332.2:n.*181_*182dup
ENST00000309822.6:c.*181_*182dup	ENSP00000308332.2:n.*181_*182dup
ENST00000517814.1:c.363+1657_363+1658dup	ENSP00000429962.1:n.363+1657_363+1658dup
ENST00000517820.1:c.188+5232_188+5233dup	ENSP00000427767.1:n.188+5232_188+5233dup
ENST00000520733.5:c.45+1657_45+1658dup	ENSP00000429384.1:n.45+1657_45+1658dup
ENST00000521071.1:c.188+5232_188+5233dup	ENSP00000430029.1:n.188+5232_188+5233dup
ENST00000521703.5:c.188+5232_188+5233dup	ENSP00000428455.1:n.188+5232_188+5233dup
ENST00000524128.1:c.45+1657_45+1658dup	ENSP00000430309.1:n.45+1657_45+1658dup
NM_032334.2:c.*181_*182dup	NP_115710.2:n.*181_*182dup
XM_005251080.2:c.363+1657_363+1658dup	XP_005251137.2:n.363+1657_363+1658dup
XR_928356.1:n.411+1657_411+1658dup
XR_928357.1:n.411+1657_411+1658dup
NM_032334.3:c.*181_*182dup MANE Select	NP_115710.2:n.*181_*182dup