Canonical Allele Identifier: CA2473585444

Gene: UROD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013891_45013892delinsCT , CM000663.2:g.45013891_45013892delinsCT	GRCh38
NC_000001.10:g.45479563_45479564delinsCT , CM000663.1:g.45479563_45479564delinsCT	GRCh37
NC_000001.9:g.45252150_45252151delinsCT	NCBI36
NG_007122.2:g.6734_6735delinsCT
NG_033058.1:g.2464_2465delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.475-18_475-17delinsCT MANE Select	ENSP00000246337.4:n.475-18_475-17delinsCT
ENST00000434478.6:c.529-18_529-17delinsCT	ENSP00000404489.2:n.529-18_529-17delinsCT
ENST00000491773.6:c.370-18_370-17delinsCT	ENSP00000498551.1:n.370-18_370-17delinsCT
ENST00000636293.1:c.475-18_475-17delinsCT	ENSP00000490710.1:n.475-18_475-17delinsCT
ENST00000636836.1:c.475-18_475-17delinsCT	ENSP00000490594.1:n.475-18_475-17delinsCT
ENST00000651476.1:c.370-18_370-17delinsCT	ENSP00000498668.1:n.370-18_370-17delinsCT
ENST00000652165.1:c.370-18_370-17delinsCT	ENSP00000498295.1:n.370-18_370-17delinsCT
ENST00000652287.1:c.412-18_412-17delinsCT	ENSP00000498413.1:n.412-18_412-17delinsCT
ENST00000652514.1:c.436-18_436-17delinsCT	ENSP00000498635.1:n.436-18_436-17delinsCT
ENST00000246337.8:c.475-18_475-17delinsCT	ENSP00000246337.4:n.475-18_475-17delinsCT
ENST00000428106.1:c.454+100_454+101delinsCT
ENST00000434478.5:c.412-18_412-17delinsCT	ENSP00000404489.1:n.412-18_412-17delinsCT
ENST00000460334.5:n.502-18_502-17delinsCT
ENST00000460906.5:n.591_592delinsCT
ENST00000462688.5:n.602-18_602-17delinsCT
ENST00000469548.5:n.671-18_671-17delinsCT
ENST00000473012.1:n.522-18_522-17delinsCT
ENST00000478467.5:n.478-18_478-17delinsCT
ENST00000486699.5:n.595-18_595-17delinsCT
ENST00000490385.5:n.549-18_549-17delinsCT
ENST00000491300.5:n.594-18_594-17delinsCT
ENST00000491773.5:n.629-18_629-17delinsCT
ENST00000494399.5:n.615-18_615-17delinsCT
ENST00000496439.1:n.553_554delinsCT
NM_000374.4:c.475-18_475-17delinsCT	NP_000365.3:n.475-18_475-17delinsCT
NR_036510.1:n.658-18_658-17delinsCT
XM_005271169.1:c.259-18_259-17delinsCT	XP_005271226.1:n.259-18_259-17delinsCT
XM_005271170.1:c.259-18_259-17delinsCT	XP_005271227.1:n.259-18_259-17delinsCT
XM_011542080.1:c.412-18_412-17delinsCT	XP_011540382.1:n.412-18_412-17delinsCT
XM_011542081.1:c.307-18_307-17delinsCT	XP_011540383.1:n.307-18_307-17delinsCT
NM_000374.5:c.475-18_475-17delinsCT MANE Select	NP_000365.3:n.475-18_475-17delinsCT
NR_158184.1:n.556-18_556-17delinsCT
NR_158185.1:n.506-18_506-17delinsCT
NR_036510.2:n.537-18_537-17delinsCT