Canonical Allele Identifier: CA2424884252
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408658_38408659delinsGA , CM000685.2:g.38408658_38408659delinsGA GRCh38
NC_000023.10:g.38267911_38267912delinsGA , CM000685.1:g.38267911_38267912delinsGA GRCh37
NC_000023.9:g.38152855_38152856delinsGA NCBI36
NG_008471.1:g.61176_61177delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.664-84_664-83delinsGA MANE Select ENSP00000039007.4:n.664-84_664-83delinsGA
ENST00000643344.1:c.*414-84_*414-83delinsGA ENSP00000496606.1:n.*414-84_*414-83delinsGA
ENST00000039007.4:c.664-84_664-83delinsGA ENSP00000039007.4:n.664-84_664-83delinsGA
ENST00000465127.1:c.172-257463_172-257462delinsGA ENSP00000417050.1:n.172-257463_172-257462delinsGA
NM_000531.5:c.664-84_664-83delinsGA NP_000522.3:n.664-84_664-83delinsGA
XM_017029556.1:c.664-84_664-83delinsGA XP_016885045.1:n.664-84_664-83delinsGA
NM_000531.6:c.664-84_664-83delinsGA MANE Select NP_000522.3:n.664-84_664-83delinsGA