Canonical Allele Identifier: CA1813484294

Gene: UTP23

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771725_116771726delinsGA , CM000670.2:g.116771725_116771726delinsGA	GRCh38
NC_000008.10:g.117783964_117783965delinsGA , CM000670.1:g.117783964_117783965delinsGA	GRCh37
NC_000008.9:g.117853145_117853146delinsGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.633_634delinsGA MANE Select	ENSP00000308332.2:p.Lys211=
ENST00000309822.6:c.633_634delinsGA	ENSP00000308332.2:p.Lys211=
ENST00000517814.1:c.363+1359_363+1360delinsGA	ENSP00000429962.1:n.363+1359_363+1360delinsGA
ENST00000517820.1:c.188+4934_188+4935delinsGA	ENSP00000427767.1:n.188+4934_188+4935delinsGA
ENST00000520733.5:c.45+1359_45+1360delinsGA	ENSP00000429384.1:n.45+1359_45+1360delinsGA
ENST00000521071.1:c.188+4934_188+4935delinsGA	ENSP00000430029.1:n.188+4934_188+4935delinsGA
ENST00000521703.5:c.188+4934_188+4935delinsGA	ENSP00000428455.1:n.188+4934_188+4935delinsGA
ENST00000521974.1:n.539_540delinsGA
ENST00000524128.1:c.45+1359_45+1360delinsGA	ENSP00000430309.1:n.45+1359_45+1360delinsGA
NM_032334.2:c.633_634delinsGA	NP_115710.2:p.Lys211=
XM_005251080.2:c.363+1359_363+1360delinsGA	XP_005251137.2:n.363+1359_363+1360delinsGA
XR_928356.1:n.411+1359_411+1360delinsGA
XR_928357.1:n.411+1359_411+1360delinsGA
NM_032334.3:c.633_634delinsGA MANE Select	NP_115710.2:p.Lys211=