Canonical Allele Identifier: CA640863204
Gene: OTC HGNC NCBI
gnomAD v2:
X:38226443 AAAAG / A
gnomAD v3:
X:38367190 AAAAG / A
gnomAD v4:
chrX-38367190-AAAAG-A
Joint Max Group AF 0.00007179 (NFE)
Genomes Max Group AF 0.00004874 (NFE)
Exomes Max Group AF 0.00006869 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367194_38367197del , CM000685.2:g.38367194_38367197del GRCh38
NC_000023.10:g.38226447_38226450del , CM000685.1:g.38226447_38226450del GRCh37
NC_000023.9:g.38111391_38111394del NCBI36
NG_008471.1:g.19712_19715del

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.78-97_78-94del MANE Select ENSP00000039007.4:n.78-97_78-94del
ENST00000643344.1:c.78-97_78-94del ENSP00000496606.1:n.78-97_78-94del
ENST00000039007.4:c.78-97_78-94del ENSP00000039007.4:n.78-97_78-94del
ENST00000465127.1:c.172-298927_172-298924del ENSP00000417050.1:n.172-298927_172-298924del
ENST00000488812.1:n.170-97_170-94del
NM_000531.5:c.78-97_78-94del NP_000522.3:n.78-97_78-94del
XM_017029556.1:c.78-97_78-94del XP_016885045.1:n.78-97_78-94del
NM_000531.6:c.78-97_78-94del MANE Select NP_000522.3:n.78-97_78-94del
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