Canonical Allele Identifier: CA2473585856

Gene: UROD

Linked Data

• dbSNP Id: rs1644843623

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45015398_45015405del , CM000663.2:g.45015398_45015405del	GRCh38
NC_000001.10:g.45481070_45481077del , CM000663.1:g.45481070_45481077del	GRCh37
NC_000001.9:g.45253657_45253664del	NCBI36
NG_007122.2:g.8241_8248del
NG_033058.1:g.953_960del

Transcript Alleles

HGVS	Amino-acid change
ENST00000246337.9:c.1004_1011del MANE Select	ENSP00000246337.4:p.Ala335GlyfsTer7
ENST00000491773.6:c.761_768del	ENSP00000498551.1:p.Ala254GlyfsTer7
ENST00000636293.1:c.866_873del	ENSP00000490710.1:p.Ala289GlyfsTer7
ENST00000636836.1:c.*40_*47del	ENSP00000490594.1:n.*40_*47del
ENST00000651476.1:c.899_906del	ENSP00000498668.1:p.Ala300GlyfsTer7
ENST00000652165.1:c.761_768del	ENSP00000498295.1:p.Ala254GlyfsTer7
ENST00000652287.1:c.941_948del	ENSP00000498413.1:p.Ala314GlyfsTer7
ENST00000652514.1:c.965_972del	ENSP00000498635.1:n.965_972del
ENST00000246337.8:c.1004_1011del	ENSP00000246337.4:p.Ala335GlyfsTer7
ENST00000465678.1:n.749_756del
ENST00000472254.1:n.757_764del
ENST00000494399.5:n.1671_1678del
NM_000374.4:c.1004_1011del	NP_000365.3:p.Ala335GlyfsTer7
NR_036510.1:n.1187_1194del
XM_005271169.1:c.788_795del	XP_005271226.1:p.Ala263GlyfsTer7
XM_005271170.1:c.788_795del	XP_005271227.1:p.Ala263GlyfsTer7
XM_011542080.1:c.941_948del	XP_011540382.1:p.Ala314GlyfsTer7
XM_011542081.1:c.836_843del	XP_011540383.1:p.Ala279GlyfsTer7
NM_000374.5:c.1004_1011del MANE Select	NP_000365.3:p.Ala335GlyfsTer7
NR_158184.1:n.1085_1092del
NR_158185.1:n.1035_1042del
NR_036510.2:n.1066_1073del