Canonical Allele Identifier: CA2688329641

Gene: UTP23

Linked Data

• gnomAD v4: 8-116771369-C-CAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771369_116771370insAGA , CM000670.2:g.116771369_116771370insAGA	GRCh38
NC_000008.10:g.117783608_117783609insAGA , CM000670.1:g.117783608_117783609insAGA	GRCh37
NC_000008.9:g.117852789_117852790insAGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.364-87_364-86insAGA MANE Select	ENSP00000308332.2:n.364-87_364-86insAGA
ENST00000309822.6:c.364-87_364-86insAGA	ENSP00000308332.2:n.364-87_364-86insAGA
ENST00000517814.1:c.363+1003_363+1004insAGA	ENSP00000429962.1:n.363+1003_363+1004insAGA
ENST00000517820.1:c.188+4578_188+4579insAGA	ENSP00000427767.1:n.188+4578_188+4579insAGA
ENST00000520733.5:c.45+1003_45+1004insAGA	ENSP00000429384.1:n.45+1003_45+1004insAGA
ENST00000521071.1:c.188+4578_188+4579insAGA	ENSP00000430029.1:n.188+4578_188+4579insAGA
ENST00000521703.5:c.188+4578_188+4579insAGA	ENSP00000428455.1:n.188+4578_188+4579insAGA
ENST00000521974.1:n.270-87_270-86insAGA
ENST00000524128.1:c.45+1003_45+1004insAGA	ENSP00000430309.1:n.45+1003_45+1004insAGA
NM_032334.2:c.364-87_364-86insAGA	NP_115710.2:n.364-87_364-86insAGA
XM_005251080.2:c.363+1003_363+1004insAGA	XP_005251137.2:n.363+1003_363+1004insAGA
XR_928356.1:n.411+1003_411+1004insAGA
XR_928357.1:n.411+1003_411+1004insAGA
NM_032334.3:c.364-87_364-86insAGA MANE Select	NP_115710.2:n.364-87_364-86insAGA