Canonical Allele Identifier: CA2603864826

Gene: UTP23

Linked Data

• gnomAD v3: 8-116771758-TGAAAA-T
• gnomAD v4: 8-116771758-TGAAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771769_116771773del , CM000670.2:g.116771769_116771773del	GRCh38
NC_000008.10:g.117784008_117784012del , CM000670.1:g.117784008_117784012del	GRCh37
NC_000008.9:g.117853189_117853193del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.677_681del MANE Select	ENSP00000308332.2:p.Arg226LysfsTer9
ENST00000309822.6:c.677_681del	ENSP00000308332.2:p.Arg226LysfsTer9
ENST00000517814.1:c.363+1403_363+1407del	ENSP00000429962.1:n.363+1403_363+1407del
ENST00000517820.1:c.188+4978_188+4982del	ENSP00000427767.1:n.188+4978_188+4982del
ENST00000520733.5:c.45+1403_45+1407del	ENSP00000429384.1:n.45+1403_45+1407del
ENST00000521071.1:c.188+4978_188+4982del	ENSP00000430029.1:n.188+4978_188+4982del
ENST00000521703.5:c.188+4978_188+4982del	ENSP00000428455.1:n.188+4978_188+4982del
ENST00000521974.1:n.583_587del
ENST00000524128.1:c.45+1403_45+1407del	ENSP00000430309.1:n.45+1403_45+1407del
NM_032334.2:c.677_681del	NP_115710.2:p.Arg226LysfsTer9
XM_005251080.2:c.363+1403_363+1407del	XP_005251137.2:n.363+1403_363+1407del
XR_928356.1:n.411+1403_411+1407del
XR_928357.1:n.411+1403_411+1407del
NM_032334.3:c.677_681del MANE Select	NP_115710.2:p.Arg226LysfsTer9