{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1768219115",
  "communityStandardTitle": [
    "NM_000015.3(NAT2):c.711del (p.Phe237LeufsTer?)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1800777588",
        "rs": 1800777588
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 18400714,
          "referenceAllele": "C",
          "start": 18400713
        }
      ],
      "hgvs": [
        "NC_000008.11:g.18400714del",
        "CM000670.2:g.18400714del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 18258224,
          "referenceAllele": "C",
          "start": 18258223
        }
      ],
      "hgvs": [
        "NC_000008.10:g.18258224del",
        "CM000670.1:g.18258224del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 18302504,
          "referenceAllele": "C",
          "start": 18302503
        }
      ],
      "hgvs": [
        "NC_000008.9:g.18302504del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 14470,
          "referenceAllele": "C",
          "start": 14469
        }
      ],
      "hgvs": [
        "NG_012246.1:g.14470del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002314"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 781,
          "referenceAllele": "C",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "ENST00000286479.4:c.711del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286479.3:p.Phe237LeufsTer?",
        "hgvsWellDefined": "ENSP00000286479.3:p.[Phe237_Tyr246delinsLeuSerSerProIleGluAsnSerIleIle;Asp248_Phe255delinsThrIleGlnIleTrpSerSerLeu;Thr257del;Thr259_Leu267delinsSerLeuArgLysArgLeuLysLysCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743851",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000286479.4:c.711del"
          },
          "RefSeq": {
            "hgvs": "NM_000015.3:c.711del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000286479.3:p.Phe237LeufsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000006.2:p.Phe237LeufsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 818,
          "referenceAllele": "C",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "ENST00000286479.3:c.711del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286479.3:p.Phe237LeufsTer?",
        "hgvsWellDefined": "ENSP00000286479.3:p.[Phe237_Tyr246delinsLeuSerSerProIleGluAsnSerIleIle;Asp248_Phe255delinsThrIleGlnIleTrpSerSerLeu;Thr257del;Thr259_Leu267delinsSerLeuArgLysArgLeuLysLysCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253369"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 437,
          "referenceAllele": "C",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "ENST00000520116.1:c.321del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428416.1:p.Phe107LeufsTer?",
        "hgvsWellDefined": "ENSP00000428416.1:p.[Phe107_Tyr116delinsLeuSerSerProIleGluAsnSerIleIle;Asp118_Phe125delinsThrIleGlnIleTrpSerSerLeu;Thr127del;Thr129_Leu137delinsSerLeuArgLysArgLeuLysLysCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347221"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 818,
          "referenceAllele": "C",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "NM_000015.2:c.711del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000006.2:p.Phe237LeufsTer?",
        "hgvsWellDefined": "NP_000006.2:p.[Phe237_Tyr246delinsLeuSerSerProIleGluAsnSerIleIle;Asp248_Phe255delinsThrIleGlnIleTrpSerSerLeu;Thr257del;Thr259_Leu267delinsSerLeuArgLysArgLeuLysLysCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006080"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 812,
          "referenceAllele": "C",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "XM_011544358.1:c.711del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542660.1:p.Phe237LeufsTer?",
        "hgvsWellDefined": "XP_011542660.1:p.[Phe237_Tyr246delinsLeuSerSerProIleGluAsnSerIleIle;Asp248_Phe255delinsThrIleGlnIleTrpSerSerLeu;Thr257del;Thr259_Leu267delinsSerLeuArgLysArgLeuLysLysCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111269"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1169,
          "referenceAllele": "C",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "XM_017012938.1:c.711del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868427.1:p.Phe237LeufsTer?",
        "hgvsWellDefined": "XP_016868427.1:p.[Phe237_Tyr246delinsLeuSerSerProIleGluAsnSerIleIle;Asp248_Phe255delinsThrIleGlnIleTrpSerSerLeu;Thr257del;Thr259_Leu267delinsSerLeuArgLysArgLeuLysLysCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566383"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 781,
          "referenceAllele": "C",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "NM_000015.3:c.711del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000006.2:p.Phe237LeufsTer?",
        "hgvsWellDefined": "NP_000006.2:p.[Phe237_Tyr246delinsLeuSerSerProIleGluAsnSerIleIle;Asp248_Phe255delinsThrIleGlnIleTrpSerSerLeu;Thr257del;Thr259_Leu267delinsSerLeuArgLysArgLeuLysLysCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662282",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000286479.4:c.711del"
          },
          "RefSeq": {
            "hgvs": "NM_000015.3:c.711del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000286479.3:p.Phe237LeufsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000006.2:p.Phe237LeufsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}