Canonical Allele Identifier: CA1943001223
Gene: UROS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.125788916_125788973delinsGGCTTGTGGCGTGGGGCTCTCTGCAGTGCAGCTTACAGGAAGGCCCTGGGCGGCCAGC , CM000672.2:g.125788916_125788973delinsGGCTTGTGGCGTGGGGCTCTCTGCAGTGCAGCTTACAGGAAGGCCCTGGGCGGCCAGC GRCh38
NC_000010.10:g.127477485_127477542delinsGGCTTGTGGCGTGGGGCTCTCTGCAGTGCAGCTTACAGGAAGGCCCTGGGCGGCCAGC , CM000672.1:g.127477485_127477542delinsGGCTTGTGGCGTGGGGCTCTCTGCAGTGCAGCTTACAGGAAGGCCCTGGGCGGCCAGC GRCh37
NC_000010.9:g.127467475_127467532delinsGGCTTGTGGCGTGGGGCTCTCTGCAGTGCAGCTTACAGGAAGGCCCTGGGCGGCCAGC NCBI36
NG_011557.1:g.39296_39353delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC
NG_011557.2:g.39296_39353delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000713579.1:c.693_750delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC ENSP00000518871.1:p.Ala231=
ENST00000368797.10:c.693_750delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC MANE Select ENSP00000357787.4:p.Ala231=
ENST00000465577.6:c.713_770delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC
ENST00000648427.1:c.*691_*748delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC ENSP00000497909.1:n.*691_*748delinsGCTGGCCGCCCAGGGCCTTCCTGTAA...
ENST00000649536.1:c.693_750delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC ENSP00000497817.1:p.Ala231=
ENST00000650185.1:c.843_900delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC
ENST00000650472.1:n.3079_3136delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC
ENST00000650524.1:c.606_663delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC ENSP00000498108.1:n.606_663delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGC...
ENST00000650587.1:c.774_831delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC ENSP00000497366.1:p.Ala258=
ENST00000368786.5:c.693_750delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC ENSP00000357775.1:p.Ala231=
ENST00000368797.8:c.693_750delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC ENSP00000357787.4:p.Ala231=
ENST00000464267.1:n.790_847delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC
ENST00000465577.5:n.335_392delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC
ENST00000470483.1:n.381_438delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC
ENST00000484541.5:n.466_523delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC
ENST00000616800.4:c.161-3713_161-3656delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC
ENST00000622016.4:c.241-3134_241-3077delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC ENSP00000483041.1:n.241-3134_241-3077delinsGCTGGCCGCCCAGGGCCT...
NM_000375.2:c.693_750delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC NP_000366.1:p.Ala231=
XM_005270137.2:c.774_831delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC XP_005270194.1:p.Ala258=
XM_005270138.2:c.693_750delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC XP_005270195.1:p.Ala231=
XM_005270139.2:c.661-3134_661-3077delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC XP_005270196.1:n.661-3134_661-3077delinsGCTGGCCGCCCAGGGCCTTCC...
XM_006717960.2:c.774_831delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC XP_006718023.1:p.Ala258=
XM_011540127.1:c.661-3713_661-3656delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC XP_011538429.1:n.661-3713_661-3656delinsGCTGGCCGCCCAGGGCCTTCC...
XR_246103.2:n.873_930delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC
XR_945810.1:n.1103_1160delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC
NM_000375.3:c.693_750delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC MANE Select NP_000366.1:p.Ala231=
NM_001324036.1:c.774_831delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC NP_001310965.1:p.Ala258=
NM_001324037.1:c.693_750delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC NP_001310966.1:p.Ala231=
NM_001324038.1:c.612_669delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC NP_001310967.1:p.Ala204=
NR_136675.1:n.778_835delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC
NR_136676.1:n.1205_1262delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC
NR_136677.1:n.927-3134_927-3077delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC
NR_136678.1:n.689_746delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC
XM_011540127.2:c.661-3713_661-3656delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC XP_011538429.1:n.661-3713_661-3656delinsGCTGGCCGCCCAGGGCCTTCC...
XM_017016611.2:c.774_831delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC XP_016872100.2:p.Ala258=
XM_017016612.2:c.661-3134_661-3077delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC XP_016872101.1:n.661-3134_661-3077delinsGCTGGCCGCCCAGGGCCTTCC...
XM_024448154.1:c.693_750delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC XP_024303922.1:p.Ala231=
XR_002957010.1:n.2032_2089delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC
XR_246103.3:n.888_945delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC
XR_945810.2:n.1118_1175delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC
NM_001324036.2:c.774_831delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC NP_001310965.1:p.Ala258=
NM_001324037.2:c.693_750delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC NP_001310966.1:p.Ala231=
NM_001324038.2:c.612_669delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC NP_001310967.1:p.Ala204=
NR_136675.2:n.768_825delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC
NR_136676.2:n.1195_1252delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC
NR_136678.2:n.679_736delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC
NR_136677.2:n.917-3134_917-3077delinsGCTGGCCGCCCAGGGCCTTCCTGTAAGCTGCACTGCAGAGAGCCCCACGCCACAAGCC