Canonical Allele Identifier: CA224805
Gene: OTC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408975_38408977del , CM000685.2:g.38408975_38408977del GRCh38
NC_000023.10:g.38268228_38268230del , CM000685.1:g.38268228_38268230del GRCh37
NC_000023.9:g.38153172_38153174del NCBI36
NG_008471.1:g.61493_61495del

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.817_819del MANE Select ENSP00000039007.4:p.Glu273del
ENST00000643344.1:c.*567_*569del ENSP00000496606.1:n.*567_*569del
ENST00000039007.4:c.817_819del ENSP00000039007.4:p.Glu273del
ENST00000465127.1:c.172-257146_172-257144del ENSP00000417050.1:n.172-257146_172-257144del
NM_000531.5:c.817_819del NP_000522.3:p.Glu273del
XM_017029556.1:c.817_819del XP_016885045.1:p.Glu273del
NM_000531.6:c.817_819del MANE Select NP_000522.3:p.Glu273del
Search 100 bp 5'
Search 100 bp 3'