Canonical Allele Identifier: CA2645372109

Gene: UROD

Linked Data

• gnomAD v4: 1-45013857-AAAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013862_45013865del , CM000663.2:g.45013862_45013865del	GRCh38
NC_000001.10:g.45479534_45479537del , CM000663.1:g.45479534_45479537del	GRCh37
NC_000001.9:g.45252121_45252124del	NCBI36
NG_007122.2:g.6705_6708del
NG_033058.1:g.2495_2498del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246337.9:c.475-47_475-44del MANE Select	ENSP00000246337.4:n.475-47_475-44del
ENST00000434478.6:c.529-47_529-44del	ENSP00000404489.2:n.529-47_529-44del
ENST00000491773.6:c.370-47_370-44del	ENSP00000498551.1:n.370-47_370-44del
ENST00000636293.1:c.475-47_475-44del	ENSP00000490710.1:n.475-47_475-44del
ENST00000636836.1:c.475-47_475-44del	ENSP00000490594.1:n.475-47_475-44del
ENST00000651476.1:c.370-47_370-44del	ENSP00000498668.1:n.370-47_370-44del
ENST00000652165.1:c.370-47_370-44del	ENSP00000498295.1:n.370-47_370-44del
ENST00000652287.1:c.412-47_412-44del	ENSP00000498413.1:n.412-47_412-44del
ENST00000652514.1:c.436-47_436-44del	ENSP00000498635.1:n.436-47_436-44del
ENST00000246337.8:c.475-47_475-44del	ENSP00000246337.4:n.475-47_475-44del
ENST00000428106.1:c.454+71_454+74del
ENST00000434478.5:c.412-47_412-44del	ENSP00000404489.1:n.412-47_412-44del
ENST00000460334.5:n.502-47_502-44del
ENST00000460906.5:n.562_565del
ENST00000462688.5:n.602-47_602-44del
ENST00000463092.5:n.941_944del
ENST00000469548.5:n.671-47_671-44del
ENST00000473012.1:n.522-47_522-44del
ENST00000478467.5:n.478-47_478-44del
ENST00000486699.5:n.595-47_595-44del
ENST00000490385.5:n.549-47_549-44del
ENST00000491300.5:n.594-47_594-44del
ENST00000491773.5:n.629-47_629-44del
ENST00000494399.5:n.615-47_615-44del
ENST00000496439.1:n.524_527del
NM_000374.4:c.475-47_475-44del	NP_000365.3:n.475-47_475-44del
NR_036510.1:n.658-47_658-44del
XM_005271169.1:c.259-47_259-44del	XP_005271226.1:n.259-47_259-44del
XM_005271170.1:c.259-47_259-44del	XP_005271227.1:n.259-47_259-44del
XM_011542080.1:c.412-47_412-44del	XP_011540382.1:n.412-47_412-44del
XM_011542081.1:c.307-47_307-44del	XP_011540383.1:n.307-47_307-44del
NM_000374.5:c.475-47_475-44del MANE Select	NP_000365.3:n.475-47_475-44del
NR_158184.1:n.556-47_556-44del
NR_158185.1:n.506-47_506-44del
NR_036510.2:n.537-47_537-44del