Canonical Allele Identifier: CA825232
Gene: UROD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45013715_45013716del , CM000663.2:g.45013715_45013716del GRCh38
NC_000001.10:g.45479387_45479388del , CM000663.1:g.45479387_45479388del GRCh37
NC_000001.9:g.45251974_45251975del NCBI36
NG_007122.2:g.6558_6559del
NG_033058.1:g.2641_2642del

Transcript Alleles

HGVS Amino-acid Change
ENST00000246337.9:c.398_399del MANE Select ENSP00000246337.4:p.Tyr133CysfsTer?
ENST00000434478.6:c.452_453del ENSP00000404489.2:p.Tyr151CysfsTer?
ENST00000491773.6:c.293_294del ENSP00000498551.1:p.Tyr98CysfsTer?
ENST00000636293.1:c.398_399del ENSP00000490710.1:p.Tyr133CysfsTer?
ENST00000636836.1:c.398_399del ENSP00000490594.1:p.Tyr133CysfsTer?
ENST00000651476.1:c.293_294del ENSP00000498668.1:p.Tyr98CysfsTer?
ENST00000652165.1:c.293_294del ENSP00000498295.1:p.Tyr98CysfsTer?
ENST00000652287.1:c.335_336del ENSP00000498413.1:p.Tyr112CysfsTer?
ENST00000652514.1:c.359_360del ENSP00000498635.1:n.359_360del
ENST00000246337.8:c.398_399del ENSP00000246337.4:p.Tyr133CysfsTer?
ENST00000428106.1:c.378_379del
ENST00000434478.5:c.335_336del ENSP00000404489.1:p.Tyr112CysfsTer?
ENST00000460334.5:n.425_426del
ENST00000460906.5:n.415_416del
ENST00000462688.5:n.525_526del
ENST00000463092.5:n.794_795del
ENST00000469548.5:n.594_595del
ENST00000473012.1:n.445_446del
ENST00000478467.5:n.401_402del
ENST00000486699.5:n.518_519del
ENST00000490385.5:n.472_473del
ENST00000491300.5:n.517_518del
ENST00000491773.5:n.552_553del
ENST00000494399.5:n.538_539del
ENST00000496439.1:n.377_378del
NM_000374.4:c.398_399del NP_000365.3:p.Tyr133CysfsTer?
NR_036510.1:n.581_582del
XM_005271169.1:c.182_183del XP_005271226.1:p.Tyr61CysfsTer?
XM_005271170.1:c.182_183del XP_005271227.1:p.Tyr61CysfsTer?
XM_011542080.1:c.335_336del XP_011540382.1:p.Tyr112CysfsTer?
XM_011542081.1:c.230_231del XP_011540383.1:p.Tyr77CysfsTer?
NM_000374.5:c.398_399del MANE Select NP_000365.3:p.Tyr133CysfsTer?
NR_158184.1:n.479_480del
NR_158185.1:n.429_430del
NR_036510.2:n.460_461del