Canonical Allele Identifier: CA2695233322
Gene: OTC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408931_38408948del , CM000685.2:g.38408931_38408948del GRCh38
NC_000023.10:g.38268184_38268201del , CM000685.1:g.38268184_38268201del GRCh37
NC_000023.9:g.38153128_38153145del NCBI36
NG_008471.1:g.61449_61466del

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.773_790del MANE Select ENSP00000039007.4:p.Asn258_Asp263del
ENST00000643344.1:c.*523_*540del ENSP00000496606.1:n.*523_*540del
ENST00000039007.4:c.773_790del ENSP00000039007.4:p.Asn258_Asp263del
ENST00000465127.1:c.172-257190_172-257173del ENSP00000417050.1:n.172-257190_172-257173del
NM_000531.5:c.773_790del NP_000522.3:p.Asn258_Asp263del
XM_017029556.1:c.773_790del XP_016885045.1:p.Asn258_Asp263del
NM_000531.6:c.773_790del MANE Select NP_000522.3:p.Asn258_Asp263del
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