Canonical Allele Identifier: CA2695233329
Gene: OTC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408992_38408998del , CM000685.2:g.38408992_38408998del GRCh38
NC_000023.10:g.38268245_38268251del , CM000685.1:g.38268245_38268251del GRCh37
NC_000023.9:g.38153189_38153195del NCBI36
NG_008471.1:g.61510_61516del

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.834_840del MANE Select ENSP00000039007.4:p.Gln279SerfsTer8
ENST00000643344.1:c.*584_*590del ENSP00000496606.1:n.*584_*590del
ENST00000039007.4:c.834_840del ENSP00000039007.4:p.Gln279SerfsTer8
ENST00000465127.1:c.172-257129_172-257123del ENSP00000417050.1:n.172-257129_172-257123del
NM_000531.5:c.834_840del NP_000522.3:p.Gln279SerfsTer8
XM_017029556.1:c.834_840del XP_016885045.1:p.Gln279SerfsTer8
NM_000531.6:c.834_840del MANE Select NP_000522.3:p.Gln279SerfsTer8
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