Canonical Allele Identifier: CA1813484345

Gene: UTP23

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771755_116771769delinsTTCTGAAAAGAAAAG , CM000670.2:g.116771755_116771769delinsTTCTGAAAAGAAAAG	GRCh38
NC_000008.10:g.117783994_117784008delinsTTCTGAAAAGAAAAG , CM000670.1:g.117783994_117784008delinsTTCTGAAAAGAAAAG	GRCh37
NC_000008.9:g.117853175_117853189delinsTTCTGAAAAGAAAAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.663_677delinsTTCTGAAAAGAAAAG MANE Select	ENSP00000308332.2:p.Ala221=
ENST00000309822.6:c.663_677delinsTTCTGAAAAGAAAAG	ENSP00000308332.2:p.Ala221=
ENST00000517814.1:c.363+1389_363+1403delinsTTCTGAAAAGAAAAG	ENSP00000429962.1:n.363+1389_363+1403delinsTTCTGAAAAGAAAAG
ENST00000517820.1:c.188+4964_188+4978delinsTTCTGAAAAGAAAAG	ENSP00000427767.1:n.188+4964_188+4978delinsTTCTGAAAAGAAAAG
ENST00000520733.5:c.45+1389_45+1403delinsTTCTGAAAAGAAAAG	ENSP00000429384.1:n.45+1389_45+1403delinsTTCTGAAAAGAAAAG
ENST00000521071.1:c.188+4964_188+4978delinsTTCTGAAAAGAAAAG	ENSP00000430029.1:n.188+4964_188+4978delinsTTCTGAAAAGAAAAG
ENST00000521703.5:c.188+4964_188+4978delinsTTCTGAAAAGAAAAG	ENSP00000428455.1:n.188+4964_188+4978delinsTTCTGAAAAGAAAAG
ENST00000521974.1:n.569_583delinsTTCTGAAAAGAAAAG
ENST00000524128.1:c.45+1389_45+1403delinsTTCTGAAAAGAAAAG	ENSP00000430309.1:n.45+1389_45+1403delinsTTCTGAAAAGAAAAG
NM_032334.2:c.663_677delinsTTCTGAAAAGAAAAG	NP_115710.2:p.Ala221=
XM_005251080.2:c.363+1389_363+1403delinsTTCTGAAAAGAAAAG	XP_005251137.2:n.363+1389_363+1403delinsTTCTGAAAAGAAAAG
XR_928356.1:n.411+1389_411+1403delinsTTCTGAAAAGAAAAG
XR_928357.1:n.411+1389_411+1403delinsTTCTGAAAAGAAAAG
NM_032334.3:c.663_677delinsTTCTGAAAAGAAAAG MANE Select	NP_115710.2:p.Ala221=