Canonical Allele Identifier: CA2473585854

Gene: UROD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45015395_45015399delinsTTGCC , CM000663.2:g.45015395_45015399delinsTTGCC	GRCh38
NC_000001.10:g.45481067_45481071delinsTTGCC , CM000663.1:g.45481067_45481071delinsTTGCC	GRCh37
NC_000001.9:g.45253654_45253658delinsTTGCC	NCBI36
NG_007122.2:g.8238_8242delinsTTGCC
NG_033058.1:g.957_961delinsGGCAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000246337.9:c.1001_1005delinsTTGCC MANE Select	ENSP00000246337.4:p.Ile334=
ENST00000491773.6:c.758_762delinsTTGCC	ENSP00000498551.1:p.Ile253=
ENST00000636293.1:c.863_867delinsTTGCC	ENSP00000490710.1:p.Ile288=
ENST00000636836.1:c.*37_*41delinsTTGCC	ENSP00000490594.1:n.*37_*41delinsTTGCC
ENST00000651476.1:c.896_900delinsTTGCC	ENSP00000498668.1:p.Ile299=
ENST00000652165.1:c.758_762delinsTTGCC	ENSP00000498295.1:p.Ile253=
ENST00000652287.1:c.938_942delinsTTGCC	ENSP00000498413.1:p.Ile313=
ENST00000652514.1:c.962_966delinsTTGCC	ENSP00000498635.1:n.962_966delinsTTGCC
ENST00000246337.8:c.1001_1005delinsTTGCC	ENSP00000246337.4:p.Ile334=
ENST00000465678.1:n.746_750delinsTTGCC
ENST00000472254.1:n.754_758delinsTTGCC
ENST00000494399.5:n.1668_1672delinsTTGCC
NM_000374.4:c.1001_1005delinsTTGCC	NP_000365.3:p.Ile334=
NR_036510.1:n.1184_1188delinsTTGCC
XM_005271169.1:c.785_789delinsTTGCC	XP_005271226.1:p.Ile262=
XM_005271170.1:c.785_789delinsTTGCC	XP_005271227.1:p.Ile262=
XM_011542080.1:c.938_942delinsTTGCC	XP_011540382.1:p.Ile313=
XM_011542081.1:c.833_837delinsTTGCC	XP_011540383.1:p.Ile278=
NM_000374.5:c.1001_1005delinsTTGCC MANE Select	NP_000365.3:p.Ile334=
NR_158184.1:n.1082_1086delinsTTGCC
NR_158185.1:n.1032_1036delinsTTGCC
NR_036510.2:n.1063_1067delinsTTGCC