Canonical Allele Identifier: CA2695233331
Gene: OTC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411896del , CM000685.2:g.38411896del GRCh38
NC_000023.10:g.38271149del , CM000685.1:g.38271149del GRCh37
NC_000023.9:g.38156093del NCBI36
NG_008471.1:g.64414del

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.902del MANE Select ENSP00000039007.4:p.Leu301TyrfsTer22
ENST00000643344.1:c.*652del ENSP00000496606.1:n.*652del
ENST00000039007.4:c.902del ENSP00000039007.4:p.Leu301TyrfsTer22
ENST00000465127.1:c.172-254225del ENSP00000417050.1:n.172-254225del
NM_000531.5:c.902del NP_000522.3:p.Leu301TyrfsTer22
NM_000531.6:c.902del MANE Select NP_000522.3:p.Leu301TyrfsTer22
Search 100 bp 5'
Search 100 bp 3'