Canonical Allele Identifier: CA2759522140
Gene: OTC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38409020_38409021insCA , CM000685.2:g.38409020_38409021insCA GRCh38
NC_000023.10:g.38268273_38268274insCA , CM000685.1:g.38268273_38268274insCA GRCh37
NC_000023.9:g.38153217_38153218insCA NCBI36
NG_008471.1:g.61538_61539insCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.862_863insCA MANE Select ENSP00000039007.4:p.Met288ThrfsTer2
ENST00000643344.1:c.*612_*613insCA ENSP00000496606.1:n.*612_*613insCA
ENST00000039007.4:c.862_863insCA ENSP00000039007.4:p.Met288ThrfsTer2
ENST00000465127.1:c.172-257101_172-257100insCA ENSP00000417050.1:n.172-257101_172-257100insCA
NM_000531.5:c.862_863insCA NP_000522.3:p.Met288ThrfsTer2
XM_017029556.1:c.862_863insCA XP_016885045.1:p.Met288ThrfsTer2
NM_000531.6:c.862_863insCA MANE Select NP_000522.3:p.Met288ThrfsTer2
Search 100 bp 5'
Search 100 bp 3'