Canonical Allele Identifier: CA2424882706
Gene: OTC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403659_38403660delinsCG , CM000685.2:g.38403659_38403660delinsCG GRCh38
NC_000023.10:g.38262912_38262913delinsCG , CM000685.1:g.38262912_38262913delinsCG GRCh37
NC_000023.9:g.38147856_38147857delinsCG NCBI36
NG_008471.1:g.56177_56178delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.582_583delinsCG MANE Select ENSP00000039007.4:p.Ile194=
ENST00000643344.1:c.*332_*333delinsCG ENSP00000496606.1:n.*332_*333delinsCG
ENST00000039007.4:c.582_583delinsCG ENSP00000039007.4:p.Ile194=
ENST00000465127.1:c.172-262462_172-262461delinsCG ENSP00000417050.1:n.172-262462_172-262461delinsCG
ENST00000488812.1:n.619_620delinsCG
NM_000531.5:c.582_583delinsCG NP_000522.3:p.Ile194=
XM_017029556.1:c.582_583delinsCG XP_016885045.1:p.Ile194=
NM_000531.6:c.582_583delinsCG MANE Select NP_000522.3:p.Ile194=
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