Canonical Allele Identifier: CA2645372107

Gene: UROD

Linked Data

• gnomAD v4: 1-45013855-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013859del , CM000663.2:g.45013859del	GRCh38
NC_000001.10:g.45479531del , CM000663.1:g.45479531del	GRCh37
NC_000001.9:g.45252118del	NCBI36
NG_007122.2:g.6702del
NG_033058.1:g.2500del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.475-50del MANE Select	ENSP00000246337.4:n.475-50del
ENST00000434478.6:c.529-50del	ENSP00000404489.2:n.529-50del
ENST00000491773.6:c.370-50del	ENSP00000498551.1:n.370-50del
ENST00000636293.1:c.475-50del	ENSP00000490710.1:n.475-50del
ENST00000636836.1:c.475-50del	ENSP00000490594.1:n.475-50del
ENST00000651476.1:c.370-50del	ENSP00000498668.1:n.370-50del
ENST00000652165.1:c.370-50del	ENSP00000498295.1:n.370-50del
ENST00000652287.1:c.412-50del	ENSP00000498413.1:n.412-50del
ENST00000652514.1:c.436-50del	ENSP00000498635.1:n.436-50del
ENST00000246337.8:c.475-50del	ENSP00000246337.4:n.475-50del
ENST00000428106.1:c.454+68del
ENST00000434478.5:c.412-50del	ENSP00000404489.1:n.412-50del
ENST00000460334.5:n.502-50del
ENST00000460906.5:n.559del
ENST00000462688.5:n.602-50del
ENST00000463092.5:n.938del
ENST00000469548.5:n.671-50del
ENST00000473012.1:n.522-50del
ENST00000478467.5:n.478-50del
ENST00000486699.5:n.595-50del
ENST00000490385.5:n.549-50del
ENST00000491300.5:n.594-50del
ENST00000491773.5:n.629-50del
ENST00000494399.5:n.615-50del
ENST00000496439.1:n.521del
NM_000374.4:c.475-50del	NP_000365.3:n.475-50del
NR_036510.1:n.658-50del
XM_005271169.1:c.259-50del	XP_005271226.1:n.259-50del
XM_005271170.1:c.259-50del	XP_005271227.1:n.259-50del
XM_011542080.1:c.412-50del	XP_011540382.1:n.412-50del
XM_011542081.1:c.307-50del	XP_011540383.1:n.307-50del
NM_000374.5:c.475-50del MANE Select	NP_000365.3:n.475-50del
NR_158184.1:n.556-50del
NR_158185.1:n.506-50del
NR_036510.2:n.537-50del