Canonical Allele Identifier: CA327925586
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs757152442
gnomAD v2: X-38226759-GA-G
gnomAD v3: X-38367506-GA-G
gnomAD v4: X-38367506-GA-G
MyVariant Identifiers: chrX:g.38226760del (hg19) chrX:g.38367507del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367513del , CM000685.2:g.38367513del GRCh38
NC_000023.10:g.38226766del , CM000685.1:g.38226766del GRCh37
NC_000023.9:g.38111710del NCBI36
NG_008471.1:g.20031del

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.216+84del MANE Select ENSP00000039007.4:n.216+84del
ENST00000643344.1:c.216+84del ENSP00000496606.1:n.216+84del
ENST00000039007.4:c.216+84del ENSP00000039007.4:n.216+84del
ENST00000465127.1:c.172-298608del ENSP00000417050.1:n.172-298608del
ENST00000488812.1:n.308+84del
NM_000531.5:c.216+84del NP_000522.3:n.216+84del
XM_017029556.1:c.216+84del XP_016885045.1:n.216+84del
NM_000531.6:c.216+84del MANE Select NP_000522.3:n.216+84del
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