{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA224558",
  "communityStandardTitle": [
    "NM_000531.6(OTC):c.330del (p.Thr112ProfsTer9)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=103062[alleleid]",
        "alleleId": 103062,
        "preferredName": "NM_000531.6(OTC):c.330del (p.Thr112fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/97170",
        "RCV": [
          "RCV000083403"
        ],
        "variationId": 97170
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.38240623del?assembly=hg19",
        "id": "chrX:g.38240623del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.38381370del?assembly=hg38",
        "id": "chrX:g.38381370del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72554353",
        "rs": 72554353
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 38381373,
          "referenceAllele": "T",
          "start": 38381372
        }
      ],
      "hgvs": [
        "NC_000023.11:g.38381373del",
        "CM000685.2:g.38381373del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 38240626,
          "referenceAllele": "T",
          "start": 38240625
        }
      ],
      "hgvs": [
        "NC_000023.10:g.38240626del",
        "CM000685.1:g.38240626del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 38125570,
          "referenceAllele": "T",
          "start": 38125569
        }
      ],
      "hgvs": [
        "NC_000023.9:g.38125570del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 33891,
          "referenceAllele": "T",
          "start": 33890
        }
      ],
      "hgvs": [
        "NG_008471.1:g.33891del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001111"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 423,
          "referenceAllele": "T",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "ENST00000039007.5:c.330del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000039007.4:p.Thr112ProfsTer9",
        "hgvsWellDefined": "ENSP00000039007.4:p.[Thr112_Asp115delinsProHisLys;His117_Gly119delinsPheIleTrp;Asn121_Ala140del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS739982",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000039007.5:c.330del"
          },
          "RefSeq": {
            "hgvs": "NM_000531.6:c.330del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000039007.4:p.Thr112ProfsTer9"
          },
          "RefSeq": {
            "hgvs": "NP_000522.3:p.Thr112ProfsTer9"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 584,
          "referenceAllele": "T",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "ENST00000643344.1:c.*80del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496606.1:n.*80del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767228"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 482,
          "referenceAllele": "T",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "ENST00000039007.4:c.330del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000039007.4:p.Thr112ProfsTer9",
        "hgvsWellDefined": "ENSP00000039007.4:p.[Thr112_Asp115delinsProHisLys;His117_Gly119delinsPheIleTrp;Asn121_Ala140del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247540"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 278,
          "endIntronDirection": "-",
          "endIntronOffset": 284747,
          "referenceAllele": "T",
          "start": 278,
          "startIntronDirection": "-",
          "startIntronOffset": 284748
        }
      ],
      "hgvs": [
        "ENST00000465127.1:c.172-284748del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417050.1:n.172-284748del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308795"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 367,
          "referenceAllele": "T",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "ENST00000488812.1:n.367del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327012"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 544,
          "referenceAllele": "T",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "NM_000531.5:c.330del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000522.3:p.Thr112ProfsTer9",
        "hgvsWellDefined": "NP_000522.3:p.[Thr112_Asp115delinsProHisLys;His117_Gly119delinsPheIleTrp;Asn121_Ala140del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006589"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 499,
          "referenceAllele": "T",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "XM_017029556.1:c.330del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885045.1:p.Thr112ProfsTer9",
        "hgvsWellDefined": "XP_016885045.1:p.[Thr112_Asp115delinsProHisLys;His117_Gly119delinsPheIleTrp;Asn121_Ala140del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579076"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 423,
          "referenceAllele": "T",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "NM_000531.6:c.330del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000522.3:p.Thr112ProfsTer9",
        "hgvsWellDefined": "NP_000522.3:p.[Thr112_Asp115delinsProHisLys;His117_Gly119delinsPheIleTrp;Asn121_Ala140del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662475",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000039007.5:c.330del"
          },
          "RefSeq": {
            "hgvs": "NM_000531.6:c.330del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000039007.4:p.Thr112ProfsTer9"
          },
          "RefSeq": {
            "hgvs": "NP_000522.3:p.Thr112ProfsTer9"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}