{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA253472",
  "communityStandardTitle": [
    "NM_001365088.1(SLC12A6):c.2995_3004del (p.Gln999GlyfsTer17)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20371[alleleid]",
        "alleleId": 20371,
        "preferredName": "NM_001365088.1(SLC12A6):c.2995_3004del (p.Gln999fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5332",
        "RCV": [
          "RCV000005658",
          "RCV000790221"
        ],
        "variationId": 5332
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.34528948_34528957del?assembly=hg19",
        "id": "chr15:g.34528948_34528957del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.34236747_34236756del?assembly=hg38",
        "id": "chr15:g.34236747_34236756del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/606231158",
        "rs": 606231158
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 34236758,
          "referenceAllele": "GCATCTGGGA",
          "start": 34236748
        }
      ],
      "hgvs": [
        "NC_000015.10:g.34236749_34236758del",
        "CM000677.2:g.34236749_34236758del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 34528959,
          "referenceAllele": "GCATCTGGGA",
          "start": 34528949
        }
      ],
      "hgvs": [
        "NC_000015.9:g.34528950_34528959del",
        "CM000677.1:g.34528950_34528959del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 32316251,
          "referenceAllele": "GCATCTGGGA",
          "start": 32316241
        }
      ],
      "hgvs": [
        "NC_000015.8:g.32316242_32316251del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 106319,
          "referenceAllele": "ATGCTCCCAG",
          "start": 106309
        }
      ],
      "hgvs": [
        "NG_007951.1:g.106310_106319del",
        "LRG_270:g.106310_106319del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000719"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3526,
          "referenceAllele": "ATGCTCCCAG",
          "start": 3516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000354181.8:c.2995_3004del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346112.3:p.Gln999GlyfsTer17",
        "hgvsWellDefined": "ENSP00000346112.3:p.[Gln999_Leu1006delinsGlyThrCysGlyTyrProLysGln;Lys1008Glu;Asp1012_Arg1021delinsHis;Ser1023_Gly1031delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748536",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354181.8:c.2995_3004del"
          },
          "RefSeq": {
            "hgvs": "NM_001365088.1:c.2995_3004del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346112.3:p.Gln999GlyfsTer17"
          },
          "RefSeq": {
            "hgvs": "NP_001352017.1:p.Gln999GlyfsTer17"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3786,
          "referenceAllele": "ATGCTCCCAG",
          "start": 3776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000676379.1:c.2995_3004del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502539.1:p.Gln999GlyfsTer17",
        "hgvsWellDefined": "ENSP00000502539.1:p.[Gln999_Leu1006delinsGlyThrCysGlyTyrProLysGln;Lys1008Glu;Asp1012_Arg1021delinsHis;Ser1023_Gly1031delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776069"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2952,
          "referenceAllele": "ATGCTCCCAG",
          "start": 2942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000290209.9:c.2842_2851del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290209.5:p.Gln948GlyfsTer17",
        "hgvsWellDefined": "ENSP00000290209.5:p.[Gln948_Leu955delinsGlyThrCysGlyTyrProLysGln;Lys957Glu;Asp961_Arg970delinsHis;Ser972_Gly980delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253627"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3497,
          "referenceAllele": "ATGCTCCCAG",
          "start": 3487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000354181.7:c.2995_3004del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346112.3:p.Gln999GlyfsTer17",
        "hgvsWellDefined": "ENSP00000346112.3:p.[Gln999_Leu1006delinsGlyThrCysGlyTyrProLysGln;Lys1008Glu;Asp1012_Arg1021delinsHis;Ser1023_Gly1031delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263033"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3025,
          "referenceAllele": "ATGCTCCCAG",
          "start": 3015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000397702.6:c.2818_2827del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380814.2:p.Gln940GlyfsTer17",
        "hgvsWellDefined": "ENSP00000380814.2:p.[Gln940_Leu947delinsGlyThrCysGlyTyrProLysGln;Lys949Glu;Asp953_Arg962delinsHis;Ser964_Gly972delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277938"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3123,
          "referenceAllele": "ATGCTCCCAG",
          "start": 3113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000397707.6:c.2950_2959del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380819.2:p.Gln984GlyfsTer17",
        "hgvsWellDefined": "ENSP00000380819.2:p.[Gln984_Leu991delinsGlyThrCysGlyTyrProLysGln;Lys993Glu;Asp997_Arg1006delinsHis;Ser1008_Gly1016delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277940"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3354,
          "referenceAllele": "ATGCTCCCAG",
          "start": 3344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000458406.6:c.2818_2827del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387725.2:p.Gln940GlyfsTer17",
        "hgvsWellDefined": "ENSP00000387725.2:p.[Gln940_Leu947delinsGlyThrCysGlyTyrProLysGln;Lys949Glu;Asp953_Arg962delinsHis;Ser964_Gly972delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304391"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3417,
          "referenceAllele": "ATGCTCCCAG",
          "start": 3407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000558589.5:c.2968_2977del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452776.1:p.Gln990GlyfsTer17",
        "hgvsWellDefined": "ENSP00000452776.1:p.[Gln990_Leu997delinsGlyThrCysGlyTyrProLysGln;Lys999Glu;Asp1003_Arg1012delinsHis;Ser1014_Gly1022delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373919"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3107,
          "referenceAllele": "ATGCTCCCAG",
          "start": 3097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000558667.5:c.2995_3004del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453473.1:p.Gln999GlyfsTer17",
        "hgvsWellDefined": "ENSP00000453473.1:p.[Gln999_Leu1006delinsGlyThrCysGlyTyrProLysGln;Lys1008Glu;Asp1012_Arg1021delinsHis;Ser1023_Gly1031delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373977"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3383,
          "referenceAllele": "ATGCTCCCAG",
          "start": 3373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000559523.5:c.*18_*27del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452904.1:n.*18_*27del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374651"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4040,
          "referenceAllele": "ATGCTCCCAG",
          "start": 4030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000559664.5:c.*204_*213del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453702.1:n.*204_*213del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374763"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2676,
          "referenceAllele": "ATGCTCCCAG",
          "start": 2666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000560164.5:c.2431_2440del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452705.1:p.Gln811GlyfsTer17",
        "hgvsWellDefined": "ENSP00000452705.1:p.[Gln811_Leu818delinsGlyThrCysGlyTyrProLysGln;Lys820Glu;Asp824_Arg833delinsHis;Ser835_Gly843delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375147"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3168,
          "referenceAllele": "ATGCTCCCAG",
          "start": 3158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000560611.5:c.2995_3004del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454168.1:p.Gln999GlyfsTer17",
        "hgvsWellDefined": "ENSP00000454168.1:p.[Gln999_Leu1006delinsGlyThrCysGlyTyrProLysGln;Lys1008Glu;Asp1012_Arg1021delinsHis;Ser1023_Gly1031delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375479"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4340,
          "referenceAllele": "ATGCTCCCAG",
          "start": 4330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000561080.5:c.*233_*242del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454069.1:n.*233_*242del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375838"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3354,
          "referenceAllele": "ATGCTCCCAG",
          "start": 3344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042494.1:c.2818_2827del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035959.1:p.Gln940GlyfsTer17",
        "hgvsWellDefined": "NP_001035959.1:p.[Gln940_Leu947delinsGlyThrCysGlyTyrProLysGln;Lys949Glu;Asp953_Arg962delinsHis;Ser964_Gly972delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009723"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3029,
          "referenceAllele": "ATGCTCCCAG",
          "start": 3019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042495.1:c.2818_2827del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035960.1:p.Gln940GlyfsTer17",
        "hgvsWellDefined": "NP_001035960.1:p.[Gln940_Leu947delinsGlyThrCysGlyTyrProLysGln;Lys949Glu;Asp953_Arg962delinsHis;Ser964_Gly972delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009724"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3420,
          "referenceAllele": "ATGCTCCCAG",
          "start": 3410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042496.1:c.2968_2977del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035961.1:p.Gln990GlyfsTer17",
        "hgvsWellDefined": "NP_001035961.1:p.[Gln990_Leu997delinsGlyThrCysGlyTyrProLysGln;Lys999Glu;Asp1003_Arg1012delinsHis;Ser1014_Gly1022delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009725"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3123,
          "referenceAllele": "ATGCTCCCAG",
          "start": 3113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042497.1:c.2950_2959del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035962.1:p.Gln984GlyfsTer17",
        "hgvsWellDefined": "NP_001035962.1:p.[Gln984_Leu991delinsGlyThrCysGlyTyrProLysGln;Lys993Glu;Asp997_Arg1006delinsHis;Ser1008_Gly1016delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009726"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2993,
          "referenceAllele": "ATGCTCCCAG",
          "start": 2983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_005135.2:c.2842_2851del",
        "LRG_270t1:c.2842_2851del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005126.1:p.Gln948GlyfsTer17",
        "hgvsWellDefined": "NP_005126.1:p.[Gln948_Leu955delinsGlyThrCysGlyTyrProLysGln;Lys957Glu;Asp961_Arg970delinsHis;Ser972_Gly980delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030257"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3168,
          "referenceAllele": "ATGCTCCCAG",
          "start": 3158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_133647.1:c.2995_3004del",
        "LRG_270t2:c.2995_3004del"
      ],
      "proteinEffect": {
        "hgvs": "NP_598408.1:p.Gln999GlyfsTer17",
        "hgvsWellDefined": "NP_598408.1:p.[Gln999_Leu1006delinsGlyThrCysGlyTyrProLysGln;Lys1008Glu;Asp1012_Arg1021delinsHis;Ser1023_Gly1031delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040581"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2863,
          "referenceAllele": "ATGCTCCCAG",
          "start": 2853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_006720793.2:c.2848_2857del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720856.1:p.Gln950GlyfsTer17",
        "hgvsWellDefined": "XP_006720856.1:p.[Gln950_Leu957delinsGlyThrCysGlyTyrProLysGln;Lys959Glu;Asp963_Arg972delinsHis;Ser974_Gly982delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073812"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3484,
          "referenceAllele": "ATGCTCCCAG",
          "start": 3474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_011522267.1:c.2995_3004del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520569.1:p.Gln999GlyfsTer17",
        "hgvsWellDefined": "XP_011520569.1:p.[Gln999_Leu1006delinsGlyThrCysGlyTyrProLysGln;Lys1008Glu;Asp1012_Arg1021delinsHis;Ser1023_Gly1031delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089422"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3173,
          "referenceAllele": "ATGCTCCCAG",
          "start": 3163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_011522268.1:c.2995_3004del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520570.1:p.Gln999GlyfsTer17",
        "hgvsWellDefined": "XP_011520570.1:p.[Gln999_Leu1006delinsGlyThrCysGlyTyrProLysGln;Lys1008Glu;Asp1012_Arg1021delinsHis;Ser1023_Gly1031delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089423"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3010,
          "referenceAllele": "ATGCTCCCAG",
          "start": 3000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_429476.2:n.3001_3010del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118385"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3039,
          "referenceAllele": "ATGCTCCCAG",
          "start": 3029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_931960.1:n.3030_3039del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128014"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3526,
          "referenceAllele": "ATGCTCCCAG",
          "start": 3516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001365088.1:c.2995_3004del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352017.1:p.Gln999GlyfsTer17",
        "hgvsWellDefined": "NP_001352017.1:p.[Gln999_Leu1006delinsGlyThrCysGlyTyrProLysGln;Lys1008Glu;Asp1012_Arg1021delinsHis;Ser1023_Gly1031delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354181.8:c.2995_3004del"
          },
          "RefSeq": {
            "hgvs": "NM_001365088.1:c.2995_3004del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346112.3:p.Gln999GlyfsTer17"
          },
          "RefSeq": {
            "hgvs": "NP_001352017.1:p.Gln999GlyfsTer17"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4104,
          "referenceAllele": "ATGCTCCCAG",
          "start": 4094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_006720793.4:c.2848_2857del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720856.1:p.Gln950GlyfsTer17",
        "hgvsWellDefined": "XP_006720856.1:p.[Gln950_Leu957delinsGlyThrCysGlyTyrProLysGln;Lys959Glu;Asp963_Arg972delinsHis;Ser974_Gly982delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540170"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4283,
          "referenceAllele": "ATGCTCCCAG",
          "start": 4273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_931960.3:n.4274_4283del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610074"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3375,
          "referenceAllele": "ATGCTCCCAG",
          "start": 3365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042494.2:c.2818_2827del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035959.1:p.Gln940GlyfsTer17",
        "hgvsWellDefined": "NP_001035959.1:p.[Gln940_Leu947delinsGlyThrCysGlyTyrProLysGln;Lys949Glu;Asp953_Arg962delinsHis;Ser964_Gly972delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676038"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3022,
          "referenceAllele": "ATGCTCCCAG",
          "start": 3012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042495.2:c.2818_2827del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035960.1:p.Gln940GlyfsTer17",
        "hgvsWellDefined": "NP_001035960.1:p.[Gln940_Leu947delinsGlyThrCysGlyTyrProLysGln;Lys949Glu;Asp953_Arg962delinsHis;Ser964_Gly972delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676039"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3441,
          "referenceAllele": "ATGCTCCCAG",
          "start": 3431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042496.2:c.2968_2977del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035961.1:p.Gln990GlyfsTer17",
        "hgvsWellDefined": "NP_001035961.1:p.[Gln990_Leu997delinsGlyThrCysGlyTyrProLysGln;Lys999Glu;Asp1003_Arg1012delinsHis;Ser1014_Gly1022delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676040"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3295,
          "referenceAllele": "ATGCTCCCAG",
          "start": 3285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042497.2:c.2950_2959del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035962.1:p.Gln984GlyfsTer17",
        "hgvsWellDefined": "NP_001035962.1:p.[Gln984_Leu991delinsGlyThrCysGlyTyrProLysGln;Lys993Glu;Asp997_Arg1006delinsHis;Ser1008_Gly1016delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676041"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3340,
          "referenceAllele": "ATGCTCCCAG",
          "start": 3330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_133647.2:c.2995_3004del"
      ],
      "proteinEffect": {
        "hgvs": "NP_598408.1:p.Gln999GlyfsTer17",
        "hgvsWellDefined": "NP_598408.1:p.[Gln999_Leu1006delinsGlyThrCysGlyTyrProLysGln;Lys1008Glu;Asp1012_Arg1021delinsHis;Ser1023_Gly1031delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729120"
    }
  ],
  "type": "nucleotide"
}