Canonical Allele Identifier: CA2695233314
Gene: OTC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403648del , CM000685.2:g.38403648del GRCh38
NC_000023.10:g.38262901del , CM000685.1:g.38262901del GRCh37
NC_000023.9:g.38147845del NCBI36
NG_008471.1:g.56166del

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.571del MANE Select ENSP00000039007.4:p.Leu191SerfsTer15
ENST00000643344.1:c.*321del ENSP00000496606.1:n.*321del
ENST00000039007.4:c.571del ENSP00000039007.4:p.Leu191SerfsTer15
ENST00000465127.1:c.172-262473del ENSP00000417050.1:n.172-262473del
ENST00000488812.1:n.608del
NM_000531.5:c.571del NP_000522.3:p.Leu191SerfsTer15
XM_017029556.1:c.571del XP_016885045.1:p.Leu191SerfsTer15
NM_000531.6:c.571del MANE Select NP_000522.3:p.Leu191SerfsTer15
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