Canonical Allele Identifier: CA1813484387

Gene: UTP23

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771771_116771775delinsAAAAG , CM000670.2:g.116771771_116771775delinsAAAAG	GRCh38
NC_000008.10:g.117784010_117784014delinsAAAAG , CM000670.1:g.117784010_117784014delinsAAAAG	GRCh37
NC_000008.9:g.117853191_117853195delinsAAAAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.679_683delinsAAAAG MANE Select	ENSP00000308332.2:p.Lys227=
ENST00000309822.6:c.679_683delinsAAAAG	ENSP00000308332.2:p.Lys227=
ENST00000517814.1:c.363+1405_363+1409delinsAAAAG	ENSP00000429962.1:n.363+1405_363+1409delinsAAAAG
ENST00000517820.1:c.188+4980_188+4984delinsAAAAG	ENSP00000427767.1:n.188+4980_188+4984delinsAAAAG
ENST00000520733.5:c.45+1405_45+1409delinsAAAAG	ENSP00000429384.1:n.45+1405_45+1409delinsAAAAG
ENST00000521071.1:c.188+4980_188+4984delinsAAAAG	ENSP00000430029.1:n.188+4980_188+4984delinsAAAAG
ENST00000521703.5:c.188+4980_188+4984delinsAAAAG	ENSP00000428455.1:n.188+4980_188+4984delinsAAAAG
ENST00000521974.1:n.585_589delinsAAAAG
ENST00000524128.1:c.45+1405_45+1409delinsAAAAG	ENSP00000430309.1:n.45+1405_45+1409delinsAAAAG
NM_032334.2:c.679_683delinsAAAAG	NP_115710.2:p.Lys227=
XM_005251080.2:c.363+1405_363+1409delinsAAAAG	XP_005251137.2:n.363+1405_363+1409delinsAAAAG
XR_928356.1:n.411+1405_411+1409delinsAAAAG
XR_928357.1:n.411+1405_411+1409delinsAAAAG
NM_032334.3:c.679_683delinsAAAAG MANE Select	NP_115710.2:p.Lys227=