Canonical Allele Identifier: CA933571198
Gene: UROS HGNC NCBI

Linked Data

dbSNP Id: rs1850728776

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.125788977_125788978del , CM000672.2:g.125788977_125788978del GRCh38
NC_000010.10:g.127477546_127477547del , CM000672.1:g.127477546_127477547del GRCh37
NC_000010.9:g.127467536_127467537del NCBI36
NG_011557.1:g.39296_39297del
NG_011557.2:g.39296_39297del

Transcript Alleles

HGVS Amino-acid Change
ENST00000713579.1:c.693_694del ENSP00000518871.1:p.Leu232GlyfsTer?
ENST00000368797.10:c.693_694del MANE Select ENSP00000357787.4:p.Leu232GlyfsTer?
ENST00000465577.6:c.713_714del
ENST00000648427.1:c.*691_*692del ENSP00000497909.1:n.*691_*692del
ENST00000649536.1:c.693_694del ENSP00000497817.1:p.Leu232GlyfsTer?
ENST00000650185.1:c.843_844del
ENST00000650472.1:n.3079_3080del
ENST00000650524.1:c.606_607del ENSP00000498108.1:n.606_607del
ENST00000650587.1:c.774_775del ENSP00000497366.1:p.Leu259GlyfsTer?
ENST00000368786.5:c.693_694del ENSP00000357775.1:p.Leu232GlyfsTer?
ENST00000368797.8:c.693_694del ENSP00000357787.4:p.Leu232GlyfsTer?
ENST00000464267.1:n.790_791del
ENST00000465577.5:n.335_336del
ENST00000470483.1:n.381_382del
ENST00000484541.5:n.466_467del
ENST00000616800.4:c.161-3713_161-3712del
ENST00000622016.4:c.241-3134_241-3133del ENSP00000483041.1:n.241-3134_241-3133del
NM_000375.2:c.693_694del NP_000366.1:p.Leu232GlyfsTer?
XM_005270137.2:c.774_775del XP_005270194.1:p.Leu259GlyfsTer?
XM_005270138.2:c.693_694del XP_005270195.1:p.Leu232GlyfsTer?
XM_005270139.2:c.661-3134_661-3133del XP_005270196.1:n.661-3134_661-3133del
XM_006717960.2:c.774_775del XP_006718023.1:p.Leu259GlyfsTer?
XM_011540127.1:c.661-3713_661-3712del XP_011538429.1:n.661-3713_661-3712del
XR_246103.2:n.873_874del
XR_945810.1:n.1103_1104del
NM_000375.3:c.693_694del MANE Select NP_000366.1:p.Leu232GlyfsTer?
NM_001324036.1:c.774_775del NP_001310965.1:p.Leu259GlyfsTer?
NM_001324037.1:c.693_694del NP_001310966.1:p.Leu232GlyfsTer?
NM_001324038.1:c.612_613del NP_001310967.1:p.Leu205GlyfsTer?
NR_136675.1:n.778_779del
NR_136676.1:n.1205_1206del
NR_136677.1:n.927-3134_927-3133del
NR_136678.1:n.689_690del
XM_011540127.2:c.661-3713_661-3712del XP_011538429.1:n.661-3713_661-3712del
XM_017016611.2:c.774_775del XP_016872100.2:p.Leu259GlyfsTer?
XM_017016612.2:c.661-3134_661-3133del XP_016872101.1:n.661-3134_661-3133del
XM_024448154.1:c.693_694del XP_024303922.1:p.Leu232GlyfsTer?
XR_002957010.1:n.2032_2033del
XR_246103.3:n.888_889del
XR_945810.2:n.1118_1119del
NM_001324036.2:c.774_775del NP_001310965.1:p.Leu259GlyfsTer?
NM_001324037.2:c.693_694del NP_001310966.1:p.Leu232GlyfsTer?
NM_001324038.2:c.612_613del NP_001310967.1:p.Leu205GlyfsTer?
NR_136675.2:n.768_769del
NR_136676.2:n.1195_1196del
NR_136678.2:n.679_680del
NR_136677.2:n.917-3134_917-3133del