Canonical Allele Identifier: CA2688330218

Gene: UTP23

Linked Data

• gnomAD v4: 8-116772019-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116772019_116772020insA , CM000670.2:g.116772019_116772020insA	GRCh38
NC_000008.10:g.117784258_117784259insA , CM000670.1:g.117784258_117784259insA	GRCh37
NC_000008.9:g.117853439_117853440insA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.*177_*178insA MANE Select	ENSP00000308332.2:n.*177_*178insA
ENST00000309822.6:c.*177_*178insA	ENSP00000308332.2:n.*177_*178insA
ENST00000517814.1:c.363+1653_363+1654insA	ENSP00000429962.1:n.363+1653_363+1654insA
ENST00000517820.1:c.188+5228_188+5229insA	ENSP00000427767.1:n.188+5228_188+5229insA
ENST00000520733.5:c.45+1653_45+1654insA	ENSP00000429384.1:n.45+1653_45+1654insA
ENST00000521071.1:c.188+5228_188+5229insA	ENSP00000430029.1:n.188+5228_188+5229insA
ENST00000521703.5:c.188+5228_188+5229insA	ENSP00000428455.1:n.188+5228_188+5229insA
ENST00000524128.1:c.45+1653_45+1654insA	ENSP00000430309.1:n.45+1653_45+1654insA
NM_032334.2:c.*177_*178insA	NP_115710.2:n.*177_*178insA
XM_005251080.2:c.363+1653_363+1654insA	XP_005251137.2:n.363+1653_363+1654insA
XR_928356.1:n.411+1653_411+1654insA
XR_928357.1:n.411+1653_411+1654insA
NM_032334.3:c.*177_*178insA MANE Select	NP_115710.2:n.*177_*178insA