Canonical Allele Identifier: CA2693443233
Gene: OTC HGNC NCBI

Linked Data

gnomAD v4: X-38409077-GA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38409079del , CM000685.2:g.38409079del GRCh38
NC_000023.10:g.38268332del , CM000685.1:g.38268332del GRCh37
NC_000023.9:g.38153276del NCBI36
NG_008471.1:g.61597del

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.867+54del MANE Select ENSP00000039007.4:n.867+54del
ENST00000643344.1:c.*617+54del ENSP00000496606.1:n.*617+54del
ENST00000039007.4:c.867+54del ENSP00000039007.4:n.867+54del
ENST00000465127.1:c.172-257042del ENSP00000417050.1:n.172-257042del
NM_000531.5:c.867+54del NP_000522.3:n.867+54del
XM_017029556.1:c.867+54del XP_016885045.1:n.867+54del
NM_000531.6:c.867+54del MANE Select NP_000522.3:n.867+54del
Search 100 bp 5'
Search 100 bp 3'