Canonical Allele Identifier: CA2693442234
Gene: OTC HGNC NCBI

Linked Data

gnomAD v4: X-38367270-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367274del , CM000685.2:g.38367274del GRCh38
NC_000023.10:g.38226527del , CM000685.1:g.38226527del GRCh37
NC_000023.9:g.38111471del NCBI36
NG_008471.1:g.19792del

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.78-17del MANE Select ENSP00000039007.4:n.78-17del
ENST00000643344.1:c.78-17del ENSP00000496606.1:n.78-17del
ENST00000039007.4:c.78-17del ENSP00000039007.4:n.78-17del
ENST00000465127.1:c.172-298847del ENSP00000417050.1:n.172-298847del
ENST00000488812.1:n.170-17del
NM_000531.5:c.78-17del NP_000522.3:n.78-17del
XM_017029556.1:c.78-17del XP_016885045.1:n.78-17del
NM_000531.6:c.78-17del MANE Select NP_000522.3:n.78-17del
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