Canonical Allele Identifier: CA2645373208

Gene: UROD

Linked Data

• gnomAD v4: 1-45015289-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45015292del , CM000663.2:g.45015292del	GRCh38
NC_000001.10:g.45480964del , CM000663.1:g.45480964del	GRCh37
NC_000001.9:g.45253551del	NCBI36
NG_007122.2:g.8135del
NG_033058.1:g.1066del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.943-45del MANE Select	ENSP00000246337.4:n.943-45del
ENST00000491773.6:c.700-45del	ENSP00000498551.1:n.700-45del
ENST00000636293.1:c.805-45del	ENSP00000490710.1:n.805-45del
ENST00000636836.1:c.876-45del	ENSP00000490594.1:n.876-45del
ENST00000651476.1:c.838-45del	ENSP00000498668.1:n.838-45del
ENST00000652165.1:c.700-45del	ENSP00000498295.1:n.700-45del
ENST00000652287.1:c.880-45del	ENSP00000498413.1:n.880-45del
ENST00000652514.1:c.904-45del	ENSP00000498635.1:n.904-45del
ENST00000246337.8:c.943-45del	ENSP00000246337.4:n.943-45del
ENST00000465678.1:n.643del
ENST00000466193.1:n.469-45del
ENST00000472254.1:n.696-45del
ENST00000494399.5:n.1610-45del
NM_000374.4:c.943-45del	NP_000365.3:n.943-45del
NR_036510.1:n.1126-45del
XM_005271169.1:c.727-45del	XP_005271226.1:n.727-45del
XM_005271170.1:c.727-45del	XP_005271227.1:n.727-45del
XM_011542080.1:c.880-45del	XP_011540382.1:n.880-45del
XM_011542081.1:c.775-45del	XP_011540383.1:n.775-45del
NM_000374.5:c.943-45del MANE Select	NP_000365.3:n.943-45del
NR_158184.1:n.1024-45del
NR_158185.1:n.974-45del
NR_036510.2:n.1005-45del