Canonical Allele Identifier: CA2499943586
Gene: UROS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.125788735_125788736del , CM000672.2:g.125788735_125788736del GRCh38
NC_000010.10:g.127477304_127477305del , CM000672.1:g.127477304_127477305del GRCh37
NC_000010.9:g.127467294_127467295del NCBI36
NG_011557.1:g.39534_39535del
NG_011557.2:g.39534_39535del

Transcript Alleles

HGVS Amino-acid Change
ENST00000713579.1:c.*133_*134del ENSP00000518871.1:n.*133_*134del
ENST00000368797.10:c.*133_*134del MANE Select ENSP00000357787.4:n.*133_*134del
ENST00000465577.6:c.951_952del
ENST00000648427.1:c.*929_*930del ENSP00000497909.1:n.*929_*930del
ENST00000649536.1:c.*133_*134del ENSP00000497817.1:n.*133_*134del
ENST00000650472.1:n.3317_3318del
ENST00000650524.1:c.844_845del ENSP00000498108.1:n.844_845del
ENST00000650587.1:c.*133_*134del ENSP00000497366.1:n.*133_*134del
ENST00000368786.5:c.*133_*134del ENSP00000357775.1:n.*133_*134del
ENST00000368797.8:c.*133_*134del ENSP00000357787.4:n.*133_*134del
ENST00000464267.1:n.1028_1029del
ENST00000465577.5:n.573_574del
ENST00000470483.1:n.619_620del
ENST00000484541.5:n.704_705del
ENST00000616800.4:c.161-3475_161-3474del
ENST00000622016.4:c.241-2896_241-2895del ENSP00000483041.1:n.241-2896_241-2895del
NM_000375.2:c.*133_*134del NP_000366.1:n.*133_*134del
XM_005270137.2:c.*133_*134del XP_005270194.1:n.*133_*134del
XM_005270138.2:c.*133_*134del XP_005270195.1:n.*133_*134del
XM_005270139.2:c.661-2896_661-2895del XP_005270196.1:n.661-2896_661-2895del
XM_006717960.2:c.*133_*134del XP_006718023.1:n.*133_*134del
XM_011540127.1:c.661-3475_661-3474del XP_011538429.1:n.661-3475_661-3474del
XR_246103.2:n.1111_1112del
XR_945810.1:n.1341_1342del
NM_000375.3:c.*133_*134del MANE Select NP_000366.1:n.*133_*134del
NM_001324036.1:c.*133_*134del NP_001310965.1:n.*133_*134del
NM_001324037.1:c.*133_*134del NP_001310966.1:n.*133_*134del
NM_001324038.1:c.*133_*134del NP_001310967.1:n.*133_*134del
NR_136675.1:n.1016_1017del
NR_136676.1:n.1443_1444del
NR_136677.1:n.927-2896_927-2895del
NR_136678.1:n.927_928del
XM_011540127.2:c.661-3475_661-3474del XP_011538429.1:n.661-3475_661-3474del
XM_017016611.2:c.*133_*134del XP_016872100.2:n.*133_*134del
XM_017016612.2:c.661-2896_661-2895del XP_016872101.1:n.661-2896_661-2895del
XM_024448154.1:c.*133_*134del XP_024303922.1:n.*133_*134del
XR_002957010.1:n.2270_2271del
XR_246103.3:n.1126_1127del
XR_945810.2:n.1356_1357del
NM_001324036.2:c.*133_*134del NP_001310965.1:n.*133_*134del
NM_001324037.2:c.*133_*134del NP_001310966.1:n.*133_*134del
NM_001324038.2:c.*133_*134del NP_001310967.1:n.*133_*134del
NR_136675.2:n.1006_1007del
NR_136676.2:n.1433_1434del
NR_136678.2:n.917_918del
NR_136677.2:n.917-2896_917-2895del