Canonical Allele Identifier: CA2424871796
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs2068316817

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38370175_38370176insGA , CM000685.2:g.38370175_38370176insGA GRCh38
NC_000023.10:g.38229428_38229429insGA , CM000685.1:g.38229428_38229429insGA GRCh37
NC_000023.9:g.38114372_38114373insGA NCBI36
NG_008471.1:g.22693_22694insGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.298+298_298+299insGA MANE Select ENSP00000039007.4:n.298+298_298+299insGA
ENST00000643344.1:c.298+298_298+299insGA ENSP00000496606.1:n.298+298_298+299insGA
ENST00000039007.4:c.298+298_298+299insGA ENSP00000039007.4:n.298+298_298+299insGA
ENST00000465127.1:c.172-295946_172-295945insGA ENSP00000417050.1:n.172-295946_172-295945insGA
ENST00000488812.1:n.353+335_353+336insGA
NM_000531.5:c.298+298_298+299insGA NP_000522.3:n.298+298_298+299insGA
XM_017029556.1:c.298+298_298+299insGA XP_016885045.1:n.298+298_298+299insGA
NM_000531.6:c.298+298_298+299insGA MANE Select NP_000522.3:n.298+298_298+299insGA