Canonical Allele Identifier: CA2695233319
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408742_38408745delinsAC , CM000685.2:g.38408742_38408745delinsAC GRCh38
NC_000023.10:g.38267995_38267998delinsAC , CM000685.1:g.38267995_38267998delinsAC GRCh37
NC_000023.9:g.38152939_38152942delinsAC NCBI36
NG_008471.1:g.61260_61263delinsAC

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.664_667delinsAC MANE Select ENSP00000039007.4:p.Gly222ThrfsTer2
ENST00000643344.1:c.*414_*417delinsAC ENSP00000496606.1:n.*414_*417delinsAC
ENST00000039007.4:c.664_667delinsAC ENSP00000039007.4:p.Gly222ThrfsTer2
ENST00000465127.1:c.172-257379_172-257376delinsAC ENSP00000417050.1:n.172-257379_172-257376...
NM_000531.5:c.664_667delinsAC NP_000522.3:p.Gly222ThrfsTer2
XM_017029556.1:c.664_667delinsAC XP_016885045.1:p.Gly222ThrfsTer2
NM_000531.6:c.664_667delinsAC MANE Select NP_000522.3:p.Gly222ThrfsTer2