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      "referenceSequence": "http://reg.genome.network/refseq/RS525148",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648915.2:c.453_454del"
          },
          "RefSeq": {
            "hgvs": "NM_003907.3:c.453_454del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497160.1:p.Tyr152TrpfsTer14"
          },
          "RefSeq": {
            "hgvs": "NP_003898.2:p.Tyr152TrpfsTer14"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 465,
          "referenceAllele": "GT",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "XM_011513266.3:c.-449_-448del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511568.1:n.-449_-448del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542842"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 817,
          "referenceAllele": "GT",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "XR_001740352.2:n.816_817del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590548"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 817,
          "referenceAllele": "GT",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "XR_001740353.2:n.816_817del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590549"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 817,
          "referenceAllele": "GT",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003261",
      "geneNCBI_id": 8893,
      "geneSymbol": "EIF2B5",
      "hgvs": [
        "XR_924208.2:n.816_817del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607645"
    }
  ],
  "type": "nucleotide"
}