Canonical Allele Identifier: CA2473585859

Gene: UROD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45015400_45015404delinsAACCT , CM000663.2:g.45015400_45015404delinsAACCT	GRCh38
NC_000001.10:g.45481072_45481076delinsAACCT , CM000663.1:g.45481072_45481076delinsAACCT	GRCh37
NC_000001.9:g.45253659_45253663delinsAACCT	NCBI36
NG_007122.2:g.8243_8247delinsAACCT
NG_033058.1:g.952_956delinsAGGTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000246337.9:c.1006_1010delinsAACCT MANE Select	ENSP00000246337.4:p.Asn336=
ENST00000491773.6:c.763_767delinsAACCT	ENSP00000498551.1:p.Asn255=
ENST00000636293.1:c.868_872delinsAACCT	ENSP00000490710.1:p.Asn290=
ENST00000636836.1:c.*42_*46delinsAACCT	ENSP00000490594.1:n.*42_*46delinsAACCT
ENST00000651476.1:c.901_905delinsAACCT	ENSP00000498668.1:p.Asn301=
ENST00000652165.1:c.763_767delinsAACCT	ENSP00000498295.1:p.Asn255=
ENST00000652287.1:c.943_947delinsAACCT	ENSP00000498413.1:p.Asn315=
ENST00000652514.1:c.967_971delinsAACCT	ENSP00000498635.1:n.967_971delinsAACCT
ENST00000246337.8:c.1006_1010delinsAACCT	ENSP00000246337.4:p.Asn336=
ENST00000465678.1:n.751_755delinsAACCT
ENST00000472254.1:n.759_763delinsAACCT
ENST00000494399.5:n.1673_1677delinsAACCT
NM_000374.4:c.1006_1010delinsAACCT	NP_000365.3:p.Asn336=
NR_036510.1:n.1189_1193delinsAACCT
XM_005271169.1:c.790_794delinsAACCT	XP_005271226.1:p.Asn264=
XM_005271170.1:c.790_794delinsAACCT	XP_005271227.1:p.Asn264=
XM_011542080.1:c.943_947delinsAACCT	XP_011540382.1:p.Asn315=
XM_011542081.1:c.838_842delinsAACCT	XP_011540383.1:p.Asn280=
NM_000374.5:c.1006_1010delinsAACCT MANE Select	NP_000365.3:p.Asn336=
NR_158184.1:n.1087_1091delinsAACCT
NR_158185.1:n.1037_1041delinsAACCT
NR_036510.2:n.1068_1072delinsAACCT