Canonical Allele Identifier: CA2424871675
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 957857
ClinVar RCV Id: RCV001230918
dbSNP Id: rs2068315148
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369846_38369848del , CM000685.2:g.38369846_38369848del GRCh38
NC_000023.10:g.38229099_38229101del , CM000685.1:g.38229099_38229101del GRCh37
NC_000023.9:g.38114043_38114045del NCBI36
NG_008471.1:g.22364_22366del

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.267_269del MANE Select ENSP00000039007.4:p.Arg89del
ENST00000643344.1:c.267_269del ENSP00000496606.1:p.Arg89del
ENST00000039007.4:c.267_269del ENSP00000039007.4:p.Arg89del
ENST00000465127.1:c.172-296275_172-296273del ENSP00000417050.1:n.172-296275_172-296273del
ENST00000488812.1:n.353+6_353+8del
NM_000531.5:c.267_269del NP_000522.3:p.Arg89del
XM_017029556.1:c.267_269del XP_016885045.1:p.Arg89del
NM_000531.6:c.267_269del MANE Select NP_000522.3:p.Arg89del
Search 100 bp 5'
Search 100 bp 3'