Canonical Allele Identifier: CA2695233330
Gene: OTC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38409011del , CM000685.2:g.38409011del GRCh38
NC_000023.10:g.38268264del , CM000685.1:g.38268264del GRCh37
NC_000023.9:g.38153208del NCBI36
NG_008471.1:g.61529del

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.853del MANE Select ENSP00000039007.4:p.Gln285ArgfsTer4
ENST00000643344.1:c.*603del ENSP00000496606.1:n.*603del
ENST00000039007.4:c.853del ENSP00000039007.4:p.Gln285ArgfsTer4
ENST00000465127.1:c.172-257110del ENSP00000417050.1:n.172-257110del
NM_000531.5:c.853del NP_000522.3:p.Gln285ArgfsTer4
XM_017029556.1:c.853del XP_016885045.1:p.Gln285ArgfsTer4
NM_000531.6:c.853del MANE Select NP_000522.3:p.Gln285ArgfsTer4
Search 100 bp 5'
Search 100 bp 3'