Canonical Allele Identifier: CA2611362175
Gene: UROS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.125788954del , CM000672.2:g.125788954del GRCh38
NC_000010.10:g.127477523del , CM000672.1:g.127477523del GRCh37
NC_000010.9:g.127467513del NCBI36
NG_011557.1:g.39316del
NG_011557.2:g.39316del

Transcript Alleles

HGVS Amino-acid Change
ENST00000713579.1:c.713del ENSP00000518871.1:p.Pro238LeufsTer2
ENST00000368797.10:c.713del MANE Select ENSP00000357787.4:p.Pro238LeufsTer2
ENST00000465577.6:c.733del
ENST00000648427.1:c.*711del ENSP00000497909.1:n.*711del
ENST00000649536.1:c.713del ENSP00000497817.1:p.Pro238LeufsTer2
ENST00000650185.1:c.863del
ENST00000650472.1:n.3099del
ENST00000650524.1:c.626del ENSP00000498108.1:n.626del
ENST00000650587.1:c.794del ENSP00000497366.1:p.Pro265LeufsTer2
ENST00000368786.5:c.713del ENSP00000357775.1:p.Pro238LeufsTer2
ENST00000368797.8:c.713del ENSP00000357787.4:p.Pro238LeufsTer2
ENST00000464267.1:n.810del
ENST00000465577.5:n.355del
ENST00000470483.1:n.401del
ENST00000484541.5:n.486del
ENST00000616800.4:c.161-3693del
ENST00000622016.4:c.241-3114del ENSP00000483041.1:n.241-3114del
NM_000375.2:c.713del NP_000366.1:p.Pro238LeufsTer2
XM_005270137.2:c.794del XP_005270194.1:p.Pro265LeufsTer2
XM_005270138.2:c.713del XP_005270195.1:p.Pro238LeufsTer2
XM_005270139.2:c.661-3114del XP_005270196.1:n.661-3114del
XM_006717960.2:c.794del XP_006718023.1:p.Pro265LeufsTer2
XM_011540127.1:c.661-3693del XP_011538429.1:n.661-3693del
XR_246103.2:n.893del
XR_945810.1:n.1123del
NM_000375.3:c.713del MANE Select NP_000366.1:p.Pro238LeufsTer2
NM_001324036.1:c.794del NP_001310965.1:p.Pro265LeufsTer2
NM_001324037.1:c.713del NP_001310966.1:p.Pro238LeufsTer2
NM_001324038.1:c.632del NP_001310967.1:p.Pro211LeufsTer2
NR_136675.1:n.798del
NR_136676.1:n.1225del
NR_136677.1:n.927-3114del
NR_136678.1:n.709del
XM_011540127.2:c.661-3693del XP_011538429.1:n.661-3693del
XM_017016611.2:c.794del XP_016872100.2:p.Pro265LeufsTer2
XM_017016612.2:c.661-3114del XP_016872101.1:n.661-3114del
XM_024448154.1:c.713del XP_024303922.1:p.Pro238LeufsTer2
XR_002957010.1:n.2052del
XR_246103.3:n.908del
XR_945810.2:n.1138del
NM_001324036.2:c.794del NP_001310965.1:p.Pro265LeufsTer2
NM_001324037.2:c.713del NP_001310966.1:p.Pro238LeufsTer2
NM_001324038.2:c.632del NP_001310967.1:p.Pro211LeufsTer2
NR_136675.2:n.788del
NR_136676.2:n.1215del
NR_136678.2:n.699del
NR_136677.2:n.917-3114del