Canonical Allele Identifier: CA640863203
Gene: OTC HGNC NCBI
gnomAD v2:
X:38226439 AAAG / A
gnomAD v3:
X:38367186 AAAG / A
gnomAD v4:
chrX-38367186-AAAG-A
Joint Max Group AF 0.00044415 (AFR)
Genomes Max Group AF 0.00042453 (AFR)
Exomes Max Group AF 0.00029403 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367189_38367191del , CM000685.2:g.38367189_38367191del GRCh38
NC_000023.10:g.38226442_38226444del , CM000685.1:g.38226442_38226444del GRCh37
NC_000023.9:g.38111386_38111388del NCBI36
NG_008471.1:g.19707_19709del

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.78-102_78-100del MANE Select ENSP00000039007.4:n.78-102_78-100del
ENST00000643344.1:c.78-102_78-100del ENSP00000496606.1:n.78-102_78-100del
ENST00000039007.4:c.78-102_78-100del ENSP00000039007.4:n.78-102_78-100del
ENST00000465127.1:c.172-298932_172-298930del ENSP00000417050.1:n.172-298932_172-298930del
ENST00000488812.1:n.170-102_170-100del
NM_000531.5:c.78-102_78-100del NP_000522.3:n.78-102_78-100del
XM_017029556.1:c.78-102_78-100del XP_016885045.1:n.78-102_78-100del
NM_000531.6:c.78-102_78-100del MANE Select NP_000522.3:n.78-102_78-100del
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