Canonical Allele Identifier: CA875144967
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs1198320145
gnomAD v3: X-38369985-GA-G
gnomAD v4: X-38369985-GA-G
MyVariant Identifiers: chrX:g.38229239del (hg19) chrX:g.38369986del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369991del , CM000685.2:g.38369991del GRCh38
NC_000023.10:g.38229244del , CM000685.1:g.38229244del GRCh37
NC_000023.9:g.38114188del NCBI36
NG_008471.1:g.22509del

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.298+114del MANE Select ENSP00000039007.4:n.298+114del
ENST00000643344.1:c.298+114del ENSP00000496606.1:n.298+114del
ENST00000039007.4:c.298+114del ENSP00000039007.4:n.298+114del
ENST00000465127.1:c.172-296130del ENSP00000417050.1:n.172-296130del
ENST00000488812.1:n.353+151del
NM_000531.5:c.298+114del NP_000522.3:n.298+114del
XM_017029556.1:c.298+114del XP_016885045.1:n.298+114del
NM_000531.6:c.298+114del MANE Select NP_000522.3:n.298+114del
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