Canonical Allele Identifier: CA2693443242
Gene: OTC HGNC NCBI

Linked Data

gnomAD v4: X-38409099-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38409102del , CM000685.2:g.38409102del GRCh38
NC_000023.10:g.38268355del , CM000685.1:g.38268355del GRCh37
NC_000023.9:g.38153299del NCBI36
NG_008471.1:g.61620del

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.867+77del MANE Select ENSP00000039007.4:n.867+77del
ENST00000643344.1:c.*617+77del ENSP00000496606.1:n.*617+77del
ENST00000039007.4:c.867+77del ENSP00000039007.4:n.867+77del
ENST00000465127.1:c.172-257019del ENSP00000417050.1:n.172-257019del
NM_000531.5:c.867+77del NP_000522.3:n.867+77del
XM_017029556.1:c.867+77del XP_016885045.1:n.867+77del
NM_000531.6:c.867+77del MANE Select NP_000522.3:n.867+77del
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