Canonical Allele Identifier: CA1943001271
Gene: UROS HGNC NCBI

Linked Data

dbSNP Id: rs1850732203

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.125789005del , CM000672.2:g.125789005del GRCh38
NC_000010.10:g.127477574del , CM000672.1:g.127477574del GRCh37
NC_000010.9:g.127467564del NCBI36
NG_011557.1:g.39266del
NG_011557.2:g.39266del

Transcript Alleles

HGVS Amino-acid Change
ENST00000713579.1:c.663del ENSP00000518871.1:p.Phe221LeufsTer19
ENST00000368797.10:c.663del MANE Select ENSP00000357787.4:p.Phe221LeufsTer19
ENST00000465577.6:c.683del
ENST00000648427.1:c.*661del ENSP00000497909.1:n.*661del
ENST00000649536.1:c.663del ENSP00000497817.1:p.Phe221LeufsTer19
ENST00000650185.1:c.813del
ENST00000650472.1:n.3049del
ENST00000650524.1:c.576del ENSP00000498108.1:n.576del
ENST00000650587.1:c.744del ENSP00000497366.1:p.Phe248LeufsTer19
ENST00000368786.5:c.663del ENSP00000357775.1:p.Phe221LeufsTer19
ENST00000368797.8:c.663del ENSP00000357787.4:p.Phe221LeufsTer19
ENST00000464267.1:n.760del
ENST00000465577.5:n.305del
ENST00000470483.1:n.351del
ENST00000484541.5:n.436del
ENST00000616800.4:c.161-3743del
ENST00000622016.4:c.241-3164del ENSP00000483041.1:n.241-3164del
NM_000375.2:c.663del NP_000366.1:p.Phe221LeufsTer19
XM_005270137.2:c.744del XP_005270194.1:p.Phe248LeufsTer19
XM_005270138.2:c.663del XP_005270195.1:p.Phe221LeufsTer19
XM_005270139.2:c.661-3164del XP_005270196.1:n.661-3164del
XM_006717960.2:c.744del XP_006718023.1:p.Phe248LeufsTer19
XM_011540127.1:c.661-3743del XP_011538429.1:n.661-3743del
XR_246103.2:n.843del
XR_945810.1:n.1073del
NM_000375.3:c.663del MANE Select NP_000366.1:p.Phe221LeufsTer19
NM_001324036.1:c.744del NP_001310965.1:p.Phe248LeufsTer19
NM_001324037.1:c.663del NP_001310966.1:p.Phe221LeufsTer19
NM_001324038.1:c.582del NP_001310967.1:p.Phe194LeufsTer19
NR_136675.1:n.748del
NR_136676.1:n.1175del
NR_136677.1:n.927-3164del
NR_136678.1:n.659del
XM_011540127.2:c.661-3743del XP_011538429.1:n.661-3743del
XM_017016611.2:c.744del XP_016872100.2:p.Phe248LeufsTer19
XM_017016612.2:c.661-3164del XP_016872101.1:n.661-3164del
XM_024448154.1:c.663del XP_024303922.1:p.Phe221LeufsTer19
XR_002957010.1:n.2002del
XR_246103.3:n.858del
XR_945810.2:n.1088del
NM_001324036.2:c.744del NP_001310965.1:p.Phe248LeufsTer19
NM_001324037.2:c.663del NP_001310966.1:p.Phe221LeufsTer19
NM_001324038.2:c.582del NP_001310967.1:p.Phe194LeufsTer19
NR_136675.2:n.738del
NR_136676.2:n.1165del
NR_136678.2:n.649del
NR_136677.2:n.917-3164del