Canonical Allele Identifier: CA2579584897
Gene: OTC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411888del , CM000685.2:g.38411888del GRCh38
NC_000023.10:g.38271141del , CM000685.1:g.38271141del GRCh37
NC_000023.9:g.38156085del NCBI36
NG_008471.1:g.64406del

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.894del MANE Select ENSP00000039007.4:p.Trp298Ter
ENST00000643344.1:c.*644del ENSP00000496606.1:n.*644del
ENST00000039007.4:c.894del ENSP00000039007.4:p.Trp298Ter
ENST00000465127.1:c.172-254233del ENSP00000417050.1:n.172-254233del
NM_000531.5:c.894del NP_000522.3:p.Trp298Ter
NM_000531.6:c.894del MANE Select NP_000522.3:p.Trp298Ter
Search 100 bp 5'
Search 100 bp 3'