Canonical Allele Identifier: CA522809951

Gene: UROD

Linked Data

• dbSNP Id: rs1226736061
• gnomAD v2: 1-45479537-GGTCA-G
• gnomAD v4: 1-45013865-GGTCA-G
• MyVariant Identifiers: chr1:g.45479538_45479541del (hg19) ; chr1:g.45013866_45013869del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45013869_45013872del , CM000663.2:g.45013869_45013872del	GRCh38
NC_000001.10:g.45479541_45479544del , CM000663.1:g.45479541_45479544del	GRCh37
NC_000001.9:g.45252128_45252131del	NCBI36
NG_007122.2:g.6712_6715del
NG_033058.1:g.2487_2490del

Transcript Alleles

HGVS	Amino-acid change
ENST00000246337.9:c.475-40_475-37del MANE Select	ENSP00000246337.4:n.475-40_475-37del
ENST00000434478.6:c.529-40_529-37del	ENSP00000404489.2:n.529-40_529-37del
ENST00000491773.6:c.370-40_370-37del	ENSP00000498551.1:n.370-40_370-37del
ENST00000636293.1:c.475-40_475-37del	ENSP00000490710.1:n.475-40_475-37del
ENST00000636836.1:c.475-40_475-37del	ENSP00000490594.1:n.475-40_475-37del
ENST00000651476.1:c.370-40_370-37del	ENSP00000498668.1:n.370-40_370-37del
ENST00000652165.1:c.370-40_370-37del	ENSP00000498295.1:n.370-40_370-37del
ENST00000652287.1:c.412-40_412-37del	ENSP00000498413.1:n.412-40_412-37del
ENST00000652514.1:c.436-40_436-37del	ENSP00000498635.1:n.436-40_436-37del
ENST00000246337.8:c.475-40_475-37del	ENSP00000246337.4:n.475-40_475-37del
ENST00000428106.1:c.454+78_454+81del
ENST00000434478.5:c.412-40_412-37del	ENSP00000404489.1:n.412-40_412-37del
ENST00000460334.5:n.502-40_502-37del
ENST00000460906.5:n.569_572del
ENST00000462688.5:n.602-40_602-37del
ENST00000463092.5:n.948_951del
ENST00000469548.5:n.671-40_671-37del
ENST00000473012.1:n.522-40_522-37del
ENST00000478467.5:n.478-40_478-37del
ENST00000486699.5:n.595-40_595-37del
ENST00000490385.5:n.549-40_549-37del
ENST00000491300.5:n.594-40_594-37del
ENST00000491773.5:n.629-40_629-37del
ENST00000494399.5:n.615-40_615-37del
ENST00000496439.1:n.531_534del
NM_000374.4:c.475-40_475-37del	NP_000365.3:n.475-40_475-37del
NR_036510.1:n.658-40_658-37del
XM_005271169.1:c.259-40_259-37del	XP_005271226.1:n.259-40_259-37del
XM_005271170.1:c.259-40_259-37del	XP_005271227.1:n.259-40_259-37del
XM_011542080.1:c.412-40_412-37del	XP_011540382.1:n.412-40_412-37del
XM_011542081.1:c.307-40_307-37del	XP_011540383.1:n.307-40_307-37del
NM_000374.5:c.475-40_475-37del MANE Select	NP_000365.3:n.475-40_475-37del
NR_158184.1:n.556-40_556-37del
NR_158185.1:n.506-40_506-37del
NR_036510.2:n.537-40_537-37del