Canonical Allele Identifier: CA1943001251
Gene: UROS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.125788971_125788973delinsAGC , CM000672.2:g.125788971_125788973delinsAGC GRCh38
NC_000010.10:g.127477540_127477542delinsAGC , CM000672.1:g.127477540_127477542delinsAGC GRCh37
NC_000010.9:g.127467530_127467532delinsAGC NCBI36
NG_011557.1:g.39296_39298delinsGCT
NG_011557.2:g.39296_39298delinsGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000713579.1:c.693_695delinsGCT ENSP00000518871.1:p.Ala231=
ENST00000368797.10:c.693_695delinsGCT MANE Select ENSP00000357787.4:p.Ala231=
ENST00000465577.6:c.713_715delinsGCT
ENST00000648427.1:c.*691_*693delinsGCT ENSP00000497909.1:n.*691_*693delinsGCT
ENST00000649536.1:c.693_695delinsGCT ENSP00000497817.1:p.Ala231=
ENST00000650185.1:c.843_845delinsGCT
ENST00000650472.1:n.3079_3081delinsGCT
ENST00000650524.1:c.606_608delinsGCT ENSP00000498108.1:n.606_608delinsGCT
ENST00000650587.1:c.774_776delinsGCT ENSP00000497366.1:p.Ala258=
ENST00000368786.5:c.693_695delinsGCT ENSP00000357775.1:p.Ala231=
ENST00000368797.8:c.693_695delinsGCT ENSP00000357787.4:p.Ala231=
ENST00000464267.1:n.790_792delinsGCT
ENST00000465577.5:n.335_337delinsGCT
ENST00000470483.1:n.381_383delinsGCT
ENST00000484541.5:n.466_468delinsGCT
ENST00000616800.4:c.161-3713_161-3711delinsGCT
ENST00000622016.4:c.241-3134_241-3132delinsGCT ENSP00000483041.1:n.241-3134_241-3132delinsGCT
NM_000375.2:c.693_695delinsGCT NP_000366.1:p.Ala231=
XM_005270137.2:c.774_776delinsGCT XP_005270194.1:p.Ala258=
XM_005270138.2:c.693_695delinsGCT XP_005270195.1:p.Ala231=
XM_005270139.2:c.661-3134_661-3132delinsGCT XP_005270196.1:n.661-3134_661-3132delinsGCT
XM_006717960.2:c.774_776delinsGCT XP_006718023.1:p.Ala258=
XM_011540127.1:c.661-3713_661-3711delinsGCT XP_011538429.1:n.661-3713_661-3711delinsGCT
XR_246103.2:n.873_875delinsGCT
XR_945810.1:n.1103_1105delinsGCT
NM_000375.3:c.693_695delinsGCT MANE Select NP_000366.1:p.Ala231=
NM_001324036.1:c.774_776delinsGCT NP_001310965.1:p.Ala258=
NM_001324037.1:c.693_695delinsGCT NP_001310966.1:p.Ala231=
NM_001324038.1:c.612_614delinsGCT NP_001310967.1:p.Ala204=
NR_136675.1:n.778_780delinsGCT
NR_136676.1:n.1205_1207delinsGCT
NR_136677.1:n.927-3134_927-3132delinsGCT
NR_136678.1:n.689_691delinsGCT
XM_011540127.2:c.661-3713_661-3711delinsGCT XP_011538429.1:n.661-3713_661-3711delinsGCT
XM_017016611.2:c.774_776delinsGCT XP_016872100.2:p.Ala258=
XM_017016612.2:c.661-3134_661-3132delinsGCT XP_016872101.1:n.661-3134_661-3132delinsGCT
XM_024448154.1:c.693_695delinsGCT XP_024303922.1:p.Ala231=
XR_002957010.1:n.2032_2034delinsGCT
XR_246103.3:n.888_890delinsGCT
XR_945810.2:n.1118_1120delinsGCT
NM_001324036.2:c.774_776delinsGCT NP_001310965.1:p.Ala258=
NM_001324037.2:c.693_695delinsGCT NP_001310966.1:p.Ala231=
NM_001324038.2:c.612_614delinsGCT NP_001310967.1:p.Ala204=
NR_136675.2:n.768_770delinsGCT
NR_136676.2:n.1195_1197delinsGCT
NR_136678.2:n.679_681delinsGCT
NR_136677.2:n.917-3134_917-3132delinsGCT