Canonical Allele Identifier: CA327924913
Gene: OTC HGNC NCBI
gnomAD v2:
X:38226438 AAAAG / A
gnomAD v3:
X:38367185 AAAAG / A
gnomAD v4:
chrX-38367185-AAAAG-A
Joint Max Group AF 0.01587861 (AFR)
Genomes Max Group AF 0.01780463 (AFR)
Exomes Max Group AF 0.01053815 (AFR)
ClinVar RCV:
RCV001587041
ClinVar Variation:
1216660
dbSNP:
771404957
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367189_38367192del , CM000685.2:g.38367189_38367192del GRCh38
NC_000023.10:g.38226442_38226445del , CM000685.1:g.38226442_38226445del GRCh37
NC_000023.9:g.38111386_38111389del NCBI36
NG_008471.1:g.19707_19710del

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.78-102_78-99del MANE Select ENSP00000039007.4:n.78-102_78-99del
ENST00000643344.1:c.78-102_78-99del ENSP00000496606.1:n.78-102_78-99del
ENST00000039007.4:c.78-102_78-99del ENSP00000039007.4:n.78-102_78-99del
ENST00000465127.1:c.172-298932_172-298929del ENSP00000417050.1:n.172-298932_172-298929del
ENST00000488812.1:n.170-102_170-99del
NM_000531.5:c.78-102_78-99del NP_000522.3:n.78-102_78-99del
XM_017029556.1:c.78-102_78-99del XP_016885045.1:n.78-102_78-99del
NM_000531.6:c.78-102_78-99del MANE Select NP_000522.3:n.78-102_78-99del
Search 100 bp 5'
Search 100 bp 3'