Canonical Allele Identifier: CA1943001270
Gene: UROS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.125789002_125789003delinsCA , CM000672.2:g.125789002_125789003delinsCA GRCh38
NC_000010.10:g.127477571_127477572delinsCA , CM000672.1:g.127477571_127477572delinsCA GRCh37
NC_000010.9:g.127467561_127467562delinsCA NCBI36
NG_011557.1:g.39266_39267delinsTG
NG_011557.2:g.39266_39267delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000713579.1:c.663_664delinsTG ENSP00000518871.1:p.Phe221=
ENST00000368797.10:c.663_664delinsTG MANE Select ENSP00000357787.4:p.Phe221=
ENST00000465577.6:c.683_684delinsTG
ENST00000648427.1:c.*661_*662delinsTG ENSP00000497909.1:n.*661_*662delinsTG
ENST00000649536.1:c.663_664delinsTG ENSP00000497817.1:p.Phe221=
ENST00000650185.1:c.813_814delinsTG
ENST00000650472.1:n.3049_3050delinsTG
ENST00000650524.1:c.576_577delinsTG ENSP00000498108.1:n.576_577delinsTG
ENST00000650587.1:c.744_745delinsTG ENSP00000497366.1:p.Phe248=
ENST00000368786.5:c.663_664delinsTG ENSP00000357775.1:p.Phe221=
ENST00000368797.8:c.663_664delinsTG ENSP00000357787.4:p.Phe221=
ENST00000464267.1:n.760_761delinsTG
ENST00000465577.5:n.305_306delinsTG
ENST00000470483.1:n.351_352delinsTG
ENST00000484541.5:n.436_437delinsTG
ENST00000616800.4:c.161-3743_161-3742delinsTG
ENST00000622016.4:c.241-3164_241-3163delinsTG ENSP00000483041.1:n.241-3164_241-3163delinsTG
NM_000375.2:c.663_664delinsTG NP_000366.1:p.Phe221=
XM_005270137.2:c.744_745delinsTG XP_005270194.1:p.Phe248=
XM_005270138.2:c.663_664delinsTG XP_005270195.1:p.Phe221=
XM_005270139.2:c.661-3164_661-3163delinsTG XP_005270196.1:n.661-3164_661-3163delinsTG
XM_006717960.2:c.744_745delinsTG XP_006718023.1:p.Phe248=
XM_011540127.1:c.661-3743_661-3742delinsTG XP_011538429.1:n.661-3743_661-3742delinsTG
XR_246103.2:n.843_844delinsTG
XR_945810.1:n.1073_1074delinsTG
NM_000375.3:c.663_664delinsTG MANE Select NP_000366.1:p.Phe221=
NM_001324036.1:c.744_745delinsTG NP_001310965.1:p.Phe248=
NM_001324037.1:c.663_664delinsTG NP_001310966.1:p.Phe221=
NM_001324038.1:c.582_583delinsTG NP_001310967.1:p.Phe194=
NR_136675.1:n.748_749delinsTG
NR_136676.1:n.1175_1176delinsTG
NR_136677.1:n.927-3164_927-3163delinsTG
NR_136678.1:n.659_660delinsTG
XM_011540127.2:c.661-3743_661-3742delinsTG XP_011538429.1:n.661-3743_661-3742delinsTG
XM_017016611.2:c.744_745delinsTG XP_016872100.2:p.Phe248=
XM_017016612.2:c.661-3164_661-3163delinsTG XP_016872101.1:n.661-3164_661-3163delinsTG
XM_024448154.1:c.663_664delinsTG XP_024303922.1:p.Phe221=
XR_002957010.1:n.2002_2003delinsTG
XR_246103.3:n.858_859delinsTG
XR_945810.2:n.1088_1089delinsTG
NM_001324036.2:c.744_745delinsTG NP_001310965.1:p.Phe248=
NM_001324037.2:c.663_664delinsTG NP_001310966.1:p.Phe221=
NM_001324038.2:c.582_583delinsTG NP_001310967.1:p.Phe194=
NR_136675.2:n.738_739delinsTG
NR_136676.2:n.1165_1166delinsTG
NR_136678.2:n.649_650delinsTG
NR_136677.2:n.917-3164_917-3163delinsTG