Canonical Allele Identifier: CA1813484618

Gene: UTP23

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116772003_116772004delinsCA , CM000670.2:g.116772003_116772004delinsCA	GRCh38
NC_000008.10:g.117784242_117784243delinsCA , CM000670.1:g.117784242_117784243delinsCA	GRCh37
NC_000008.9:g.117853423_117853424delinsCA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.*161_*162delinsCA MANE Select	ENSP00000308332.2:n.*161_*162delinsCA
ENST00000309822.6:c.*161_*162delinsCA	ENSP00000308332.2:n.*161_*162delinsCA
ENST00000517814.1:c.363+1637_363+1638delinsCA	ENSP00000429962.1:n.363+1637_363+1638delinsCA
ENST00000517820.1:c.188+5212_188+5213delinsCA	ENSP00000427767.1:n.188+5212_188+5213delinsCA
ENST00000520733.5:c.45+1637_45+1638delinsCA	ENSP00000429384.1:n.45+1637_45+1638delinsCA
ENST00000521071.1:c.188+5212_188+5213delinsCA	ENSP00000430029.1:n.188+5212_188+5213delinsCA
ENST00000521703.5:c.188+5212_188+5213delinsCA	ENSP00000428455.1:n.188+5212_188+5213delinsCA
ENST00000524128.1:c.45+1637_45+1638delinsCA	ENSP00000430309.1:n.45+1637_45+1638delinsCA
NM_032334.2:c.*161_*162delinsCA	NP_115710.2:n.*161_*162delinsCA
XM_005251080.2:c.363+1637_363+1638delinsCA	XP_005251137.2:n.363+1637_363+1638delinsCA
XR_928356.1:n.411+1637_411+1638delinsCA
XR_928357.1:n.411+1637_411+1638delinsCA
NM_032334.3:c.*161_*162delinsCA MANE Select	NP_115710.2:n.*161_*162delinsCA