Canonical Allele Identifier: CA1001202230

Gene: UROD

Linked Data

• dbSNP Id: rs1644843602
• gnomAD v3: 1-45015395-TTGCC-T
• gnomAD v4: 1-45015395-TTGCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45015396_45015399del , CM000663.2:g.45015396_45015399del	GRCh38
NC_000001.10:g.45481068_45481071del , CM000663.1:g.45481068_45481071del	GRCh37
NC_000001.9:g.45253655_45253658del	NCBI36
NG_007122.2:g.8239_8242del
NG_033058.1:g.957_960del

Transcript Alleles

HGVS	Amino-acid change
ENST00000246337.9:c.1002_1005del MANE Select	ENSP00000246337.4:p.Ala335ThrfsTer?
ENST00000491773.6:c.759_762del	ENSP00000498551.1:p.Ala254ThrfsTer?
ENST00000636293.1:c.864_867del	ENSP00000490710.1:p.Ala289ThrfsTer?
ENST00000636836.1:c.*38_*41del	ENSP00000490594.1:n.*38_*41del
ENST00000651476.1:c.897_900del	ENSP00000498668.1:p.Ala300ThrfsTer?
ENST00000652165.1:c.759_762del	ENSP00000498295.1:p.Ala254ThrfsTer?
ENST00000652287.1:c.939_942del	ENSP00000498413.1:p.Ala314ThrfsTer?
ENST00000652514.1:c.963_966del	ENSP00000498635.1:n.963_966del
ENST00000246337.8:c.1002_1005del	ENSP00000246337.4:p.Ala335ThrfsTer?
ENST00000465678.1:n.747_750del
ENST00000472254.1:n.755_758del
ENST00000494399.5:n.1669_1672del
NM_000374.4:c.1002_1005del	NP_000365.3:p.Ala335ThrfsTer?
NR_036510.1:n.1185_1188del
XM_005271169.1:c.786_789del	XP_005271226.1:p.Ala263ThrfsTer?
XM_005271170.1:c.786_789del	XP_005271227.1:p.Ala263ThrfsTer?
XM_011542080.1:c.939_942del	XP_011540382.1:p.Ala314ThrfsTer?
XM_011542081.1:c.834_837del	XP_011540383.1:p.Ala279ThrfsTer?
NM_000374.5:c.1002_1005del MANE Select	NP_000365.3:p.Ala335ThrfsTer?
NR_158184.1:n.1083_1086del
NR_158185.1:n.1033_1036del
NR_036510.2:n.1064_1067del