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        "hgvsWellDefined": "NP_001230208.1:p.[Phe573delinsSerThrPro;His574_Pro575insAsp;Pro575_Ser576insAlaAspTrpAspCysGly;Ser576_Ter577insGlyGlyGluGlnGlnThrSerProSerHisArgGluProArgGlyProVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680213",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000614302.5:c.1718del"
          },
          "RefSeq": {
            "hgvs": "NM_001243279.3:c.1718del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000479130.1:p.Phe573SerfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_001230208.1:p.Phe573SerfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1193,
          "referenceAllele": "T",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_001284316.2:c.923del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271245.1:p.Phe308SerfsTer?",
        "hgvsWellDefined": "NP_001271245.1:p.[Phe308delinsSerThrPro;His309_Pro310insAsp;Pro310_Ser311insAlaAspTrpAspCysGly;Ser311_Ter312insGlyGlyGluGlnGlnThrSerProSerHisArgGluProArgGlyProVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682055"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2052,
          "referenceAllele": "T",
          "start": 2051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_174917.5:c.1718del"
      ],
      "proteinEffect": {
        "hgvs": "NP_777577.2:p.Phe573SerfsTer?",
        "hgvsWellDefined": "NP_777577.2:p.[Phe573delinsSerThrPro;His574_Pro575insAsp;Pro575_Ser576insAlaAspTrpAspCysGly;Ser576_Ter577insGlyGlyGluGlnGlnThrSerProSerHisArgGluProArgGlyProVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700677"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2109,
          "referenceAllele": "T",
          "start": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_104293.2:n.2109del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702984"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2153,
          "referenceAllele": "T",
          "start": 2152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_147928.2:n.2153del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704609"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1907,
          "referenceAllele": "T",
          "start": 1906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_147929.2:n.1907del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704610"
    }
  ],
  "type": "nucleotide"
}