Canonical Allele Identifier: CA2688330222

Gene: UTP23

Linked Data

• gnomAD v4: 8-116772020-TAAAATACA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116772026_116772033del , CM000670.2:g.116772026_116772033del	GRCh38
NC_000008.10:g.117784265_117784272del , CM000670.1:g.117784265_117784272del	GRCh37
NC_000008.9:g.117853446_117853453del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.*184_*191del MANE Select	ENSP00000308332.2:n.*184_*191del
ENST00000309822.6:c.*184_*191del	ENSP00000308332.2:n.*184_*191del
ENST00000517814.1:c.363+1660_363+1667del	ENSP00000429962.1:n.363+1660_363+1667del
ENST00000517820.1:c.188+5235_188+5242del	ENSP00000427767.1:n.188+5235_188+5242del
ENST00000520733.5:c.45+1660_45+1667del	ENSP00000429384.1:n.45+1660_45+1667del
ENST00000521071.1:c.188+5235_188+5242del	ENSP00000430029.1:n.188+5235_188+5242del
ENST00000521703.5:c.188+5235_188+5242del	ENSP00000428455.1:n.188+5235_188+5242del
ENST00000524128.1:c.45+1660_45+1667del	ENSP00000430309.1:n.45+1660_45+1667del
NM_032334.2:c.*184_*191del	NP_115710.2:n.*184_*191del
XM_005251080.2:c.363+1660_363+1667del	XP_005251137.2:n.363+1660_363+1667del
XR_928356.1:n.411+1660_411+1667del
XR_928357.1:n.411+1660_411+1667del
NM_032334.3:c.*184_*191del MANE Select	NP_115710.2:n.*184_*191del