Canonical Allele Identifier: CA327944352
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 1179823
ClinVar RCV Id: RCV001536887
dbSNP Id: rs3047852
gnomAD v2: X-38262698-G-GATT
gnomAD v3: X-38403445-G-GATT
gnomAD v4: X-38403445-G-GATT
COSMIC: COSN18748474
MyVariant Identifiers: chrX:g.38262701_38262702insATT (hg19) chrX:g.38262698_38262699insATT (hg19) chrX:g.38403448_38403449insATT (hg38) chrX:g.38403445_38403446insATT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403446_38403448dup , CM000685.2:g.38403446_38403448dup GRCh38
NC_000023.10:g.38262699_38262701dup , CM000685.1:g.38262699_38262701dup GRCh37
NC_000023.9:g.38147643_38147645dup NCBI36
NG_008471.1:g.55964_55966dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.541-172_541-170dup MANE Select ENSP00000039007.4:n.541-172_541-170dup
ENST00000643344.1:c.*291-172_*291-170dup ENSP00000496606.1:n.*291-172_*291-170dup
ENST00000039007.4:c.541-172_541-170dup ENSP00000039007.4:n.541-172_541-170dup
ENST00000465127.1:c.172-262675_172-262673dup ENSP00000417050.1:n.172-262675_172-262673dup
ENST00000488812.1:n.578-172_578-170dup
NM_000531.5:c.541-172_541-170dup NP_000522.3:n.541-172_541-170dup
XM_017029556.1:c.541-172_541-170dup XP_016885045.1:n.541-172_541-170dup
NM_000531.6:c.541-172_541-170dup MANE Select NP_000522.3:n.541-172_541-170dup
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