Canonical Allele Identifier: CA2586966522

Gene: UROD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45015377_45015378del , CM000663.2:g.45015377_45015378del	GRCh38
NC_000001.10:g.45481049_45481050del , CM000663.1:g.45481049_45481050del	GRCh37
NC_000001.9:g.45253636_45253637del	NCBI36
NG_007122.2:g.8220_8221del
NG_033058.1:g.979_980del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.983_984del MANE Select	ENSP00000246337.4:p.Phe328TrpfsTer16
ENST00000491773.6:c.740_741del	ENSP00000498551.1:p.Phe247TrpfsTer16
ENST00000636293.1:c.845_846del	ENSP00000490710.1:p.Phe282TrpfsTer16
ENST00000636836.1:c.*19_*20del	ENSP00000490594.1:n.*19_*20del
ENST00000651476.1:c.878_879del	ENSP00000498668.1:p.Phe293TrpfsTer16
ENST00000652165.1:c.740_741del	ENSP00000498295.1:p.Phe247TrpfsTer16
ENST00000652287.1:c.920_921del	ENSP00000498413.1:p.Phe307TrpfsTer16
ENST00000652514.1:c.944_945del	ENSP00000498635.1:n.944_945del
ENST00000246337.8:c.983_984del	ENSP00000246337.4:p.Phe328TrpfsTer16
ENST00000465678.1:n.728_729del
ENST00000466193.1:n.509_510del
ENST00000472254.1:n.736_737del
ENST00000494399.5:n.1650_1651del
NM_000374.4:c.983_984del	NP_000365.3:p.Phe328TrpfsTer16
NR_036510.1:n.1166_1167del
XM_005271169.1:c.767_768del	XP_005271226.1:p.Phe256TrpfsTer16
XM_005271170.1:c.767_768del	XP_005271227.1:p.Phe256TrpfsTer16
XM_011542080.1:c.920_921del	XP_011540382.1:p.Phe307TrpfsTer16
XM_011542081.1:c.815_816del	XP_011540383.1:p.Phe272TrpfsTer16
NM_000374.5:c.983_984del MANE Select	NP_000365.3:p.Phe328TrpfsTer16
NR_158184.1:n.1064_1065del
NR_158185.1:n.1014_1015del
NR_036510.2:n.1045_1046del