Canonical Allele Identifier: CA2579584719
Gene: OTC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367380del , CM000685.2:g.38367380del GRCh38
NC_000023.10:g.38226633del , CM000685.1:g.38226633del GRCh37
NC_000023.9:g.38111577del NCBI36
NG_008471.1:g.19898del

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.167del MANE Select ENSP00000039007.4:p.Met56SerfsTer8
ENST00000643344.1:c.167del ENSP00000496606.1:p.Met56SerfsTer8
ENST00000039007.4:c.167del ENSP00000039007.4:p.Met56SerfsTer8
ENST00000465127.1:c.172-298741del ENSP00000417050.1:n.172-298741del
ENST00000488812.1:n.259del
NM_000531.5:c.167del NP_000522.3:p.Met56SerfsTer8
XM_017029556.1:c.167del XP_016885045.1:p.Met56SerfsTer8
NM_000531.6:c.167del MANE Select NP_000522.3:p.Met56SerfsTer8
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