Canonical Allele Identifier: CA2695233320
Gene: OTC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408752_38408753delinsAA , CM000685.2:g.38408752_38408753delinsAA GRCh38
NC_000023.10:g.38268005_38268006delinsAA , CM000685.1:g.38268005_38268006delinsAA GRCh37
NC_000023.9:g.38152949_38152950delinsAA NCBI36
NG_008471.1:g.61270_61271delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.674_675delinsAA MANE Select ENSP00000039007.4:p.Pro225Gln
ENST00000643344.1:c.*424_*425delinsAA ENSP00000496606.1:n.*424_*425delinsAA
ENST00000039007.4:c.674_675delinsAA ENSP00000039007.4:p.Pro225Gln
ENST00000465127.1:c.172-257369_172-257368delinsAA ENSP00000417050.1:n.172-257369_172-257368delinsAA
NM_000531.5:c.674_675delinsAA NP_000522.3:p.Pro225Gln
XM_017029556.1:c.674_675delinsAA XP_016885045.1:p.Pro225Gln
NM_000531.6:c.674_675delinsAA MANE Select NP_000522.3:p.Pro225Gln
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