Canonical Allele Identifier: CA2424870745
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs2068300011

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367156_38367157del , CM000685.2:g.38367156_38367157del GRCh38
NC_000023.10:g.38226409_38226410del , CM000685.1:g.38226409_38226410del GRCh37
NC_000023.9:g.38111353_38111354del NCBI36
NG_008471.1:g.19674_19675del

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.78-135_78-134del MANE Select ENSP00000039007.4:n.78-135_78-134del
ENST00000643344.1:c.78-135_78-134del ENSP00000496606.1:n.78-135_78-134del
ENST00000039007.4:c.78-135_78-134del ENSP00000039007.4:n.78-135_78-134del
ENST00000465127.1:c.172-298965_172-298964del ENSP00000417050.1:n.172-298965_172-298964...
ENST00000488812.1:n.170-135_170-134del
NM_000531.5:c.78-135_78-134del NP_000522.3:n.78-135_78-134del
XM_017029556.1:c.78-135_78-134del XP_016885045.1:n.78-135_78-134del
NM_000531.6:c.78-135_78-134del MANE Select NP_000522.3:n.78-135_78-134del