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        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001365088.1:c.3304_3308del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352017.1:p.Lys1102GlyfsTer13",
        "hgvsWellDefined": "NP_001352017.1:p.[Lys1102_Pro1109del;Pro1111_Pro1115delinsPheIle;Gly1117_Asn1120del;Met1122_Leu1128delinsAlaArgAla;Glu1130_Leu1132delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354181.8:c.3304_3308del"
          },
          "RefSeq": {
            "hgvs": "NM_001365088.1:c.3304_3308del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346112.3:p.Lys1102GlyfsTer13"
          },
          "RefSeq": {
            "hgvs": "NP_001352017.1:p.Lys1102GlyfsTer13"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4408,
          "referenceAllele": "AAGCT",
          "start": 4403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_006720793.4:c.3157_3161del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720856.1:p.Lys1053GlyfsTer13",
        "hgvsWellDefined": "XP_006720856.1:p.[Lys1053_Pro1060del;Pro1062_Pro1066delinsPheIle;Gly1068_Asn1071del;Met1073_Leu1079delinsAlaArgAla;Glu1081_Leu1083delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540170"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4587,
          "referenceAllele": "AAGCT",
          "start": 4582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_931960.3:n.4583_4587del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610074"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3679,
          "referenceAllele": "AAGCT",
          "start": 3674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042494.2:c.3127_3131del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035959.1:p.Lys1043GlyfsTer13",
        "hgvsWellDefined": "NP_001035959.1:p.[Lys1043_Pro1050del;Pro1052_Pro1056delinsPheIle;Gly1058_Asn1061del;Met1063_Leu1069delinsAlaArgAla;Glu1071_Leu1073delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676038"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3326,
          "referenceAllele": "AAGCT",
          "start": 3321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042495.2:c.3127_3131del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035960.1:p.Lys1043GlyfsTer13",
        "hgvsWellDefined": "NP_001035960.1:p.[Lys1043_Pro1050del;Pro1052_Pro1056delinsPheIle;Gly1058_Asn1061del;Met1063_Leu1069delinsAlaArgAla;Glu1071_Leu1073delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676039"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3745,
          "referenceAllele": "AAGCT",
          "start": 3740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042496.2:c.3277_3281del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035961.1:p.Lys1093GlyfsTer13",
        "hgvsWellDefined": "NP_001035961.1:p.[Lys1093_Pro1100del;Pro1102_Pro1106delinsPheIle;Gly1108_Asn1111del;Met1113_Leu1119delinsAlaArgAla;Glu1121_Leu1123delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676040"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3599,
          "referenceAllele": "AAGCT",
          "start": 3594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042497.2:c.3259_3263del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035962.1:p.Lys1087GlyfsTer13",
        "hgvsWellDefined": "NP_001035962.1:p.[Lys1087_Pro1094del;Pro1096_Pro1100delinsPheIle;Gly1102_Asn1105del;Met1107_Leu1113delinsAlaArgAla;Glu1115_Leu1117delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676041"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3644,
          "referenceAllele": "AAGCT",
          "start": 3639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_133647.2:c.3304_3308del"
      ],
      "proteinEffect": {
        "hgvs": "NP_598408.1:p.Lys1102GlyfsTer13",
        "hgvsWellDefined": "NP_598408.1:p.[Lys1102_Pro1109del;Pro1111_Pro1115delinsPheIle;Gly1117_Asn1120del;Met1122_Leu1128delinsAlaArgAla;Glu1130_Leu1132delinsProLysPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729120"
    }
  ],
  "type": "nucleotide"
}