Canonical Allele Identifier: CA1139667392
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 965756
ClinVar RCV Id: RCV001240275
dbSNP Id: rs2068529696
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408938_38408939delinsG , CM000685.2:g.38408938_38408939delinsG GRCh38
NC_000023.10:g.38268191_38268192delinsG , CM000685.1:g.38268191_38268192delinsG GRCh37
NC_000023.9:g.38153135_38153136delinsG NCBI36
NG_008471.1:g.61456_61457delinsG

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.780_781delinsG MANE Select ENSP00000039007.4:p.Ile261LeufsTer6
ENST00000643344.1:c.*530_*531delinsG ENSP00000496606.1:n.*530_*531delinsG
ENST00000039007.4:c.780_781delinsG ENSP00000039007.4:p.Ile261LeufsTer6
ENST00000465127.1:c.172-257183_172-257182delinsG ENSP00000417050.1:n.172-257183_172-257182delinsG
NM_000531.5:c.780_781delinsG NP_000522.3:p.Ile261LeufsTer6
XM_017029556.1:c.780_781delinsG XP_016885045.1:p.Ile261LeufsTer6
NM_000531.6:c.780_781delinsG MANE Select NP_000522.3:p.Ile261LeufsTer6
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