Canonical Allele Identifier: CA2695233333
Gene: OTC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411983_38411984del , CM000685.2:g.38411983_38411984del GRCh38
NC_000023.10:g.38271236_38271237del , CM000685.1:g.38271236_38271237del GRCh37
NC_000023.9:g.38156180_38156181del NCBI36
NG_008471.1:g.64501_64502del

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.989_990del MANE Select ENSP00000039007.4:p.Arg330LysfsTer23
ENST00000643344.1:c.*739_*740del ENSP00000496606.1:n.*739_*740del
ENST00000039007.4:c.989_990del ENSP00000039007.4:p.Arg330LysfsTer23
ENST00000465127.1:c.172-254138_172-254137del ENSP00000417050.1:n.172-254138_172-254137del
NM_000531.5:c.989_990del NP_000522.3:p.Arg330LysfsTer23
NM_000531.6:c.989_990del MANE Select NP_000522.3:p.Arg330LysfsTer23
Search 100 bp 5'
Search 100 bp 3'