{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA392317970",
  "communityStandardTitle": [
    "NM_000338.3(SLC12A1):c.2741G>A (p.Trp914Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1935116[alleleid]",
        "alleleId": 1935116,
        "preferredName": "NM_000338.3(SLC12A1):c.2741G>A (p.Trp914Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1878351",
        "RCV": [
          "RCV002510404",
          "RCV003689021"
        ],
        "variationId": 1878351
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48580351G>A?assembly=hg19",
        "id": "chr15:g.48580351G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48288154G>A?assembly=hg38",
        "id": "chr15:g.48288154G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2042079691",
        "rs": 2042079691
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 48288154,
          "referenceAllele": "G",
          "start": 48288153
        }
      ],
      "hgvs": [
        "NC_000015.10:g.48288154G>A",
        "CM000677.2:g.48288154G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 48580351,
          "referenceAllele": "G",
          "start": 48580350
        }
      ],
      "hgvs": [
        "NC_000015.9:g.48580351G>A",
        "CM000677.1:g.48580351G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 46367643,
          "referenceAllele": "G",
          "start": 46367642
        }
      ],
      "hgvs": [
        "NC_000015.8:g.46367643G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 86854,
          "referenceAllele": "G",
          "start": 86853
        }
      ],
      "hgvs": [
        "NG_021301.1:g.86854G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003546"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2956,
          "referenceAllele": "G",
          "start": 2955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "ENST00000686073.1:c.2741G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508901.1:p.Trp914Ter",
        "hgvsWellDefined": "ENSP00000508901.1:p.Trp915_Ser1099delinsLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2956,
          "referenceAllele": "G",
          "start": 2955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "ENST00000380993.8:c.2741G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370381.3:p.Trp914Ter",
        "hgvsWellDefined": "ENSP00000370381.3:p.Trp915_Ser1099delinsLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752470",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380993.8:c.2741G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000338.3:c.2741G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370381.3:p.Trp914Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000329.2:p.Trp914Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3271,
          "referenceAllele": "G",
          "start": 3270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "ENST00000646012.1:c.2879G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495813.1:p.Trp960Ter",
        "hgvsWellDefined": "ENSP00000495813.1:p.Trp961_Ser1145delinsLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768651"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3250,
          "referenceAllele": "G",
          "start": 3249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "ENST00000647232.1:c.2741G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493875.1:p.Trp914Ter",
        "hgvsWellDefined": "ENSP00000493875.1:p.Trp915_Ser1099delinsLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769300"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3099,
          "referenceAllele": "G",
          "start": 3098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "ENST00000647546.1:c.2741G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495332.1:p.Trp914Ter",
        "hgvsWellDefined": "ENSP00000495332.1:p.Trp915_Ser1099delinsLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769476"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2957,
          "referenceAllele": "G",
          "start": 2956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "ENST00000380993.7:c.2741G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370381.3:p.Trp914Ter",
        "hgvsWellDefined": "ENSP00000370381.3:p.Trp915_Ser1099delinsLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273173"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2956,
          "referenceAllele": "G",
          "start": 2955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "ENST00000396577.7:c.2741G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379822.3:p.Trp914Ter",
        "hgvsWellDefined": "ENSP00000379822.3:p.Trp915_Ser1099delinsLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277336"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6864,
          "referenceAllele": "G",
          "start": 6863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "ENST00000558252.5:n.6864G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373663"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2755,
          "referenceAllele": "G",
          "start": 2754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "ENST00000558405.5:c.2741G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453409.1:p.Trp914Ter",
        "hgvsWellDefined": "ENSP00000453409.1:p.Trp915_Ser1099delinsLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373773"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6880,
          "referenceAllele": "G",
          "start": 6879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "ENST00000560692.5:n.6880G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375541"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825142680",
      "coordinates": [
        {
          "allele": "A",
          "end": 2957,
          "referenceAllele": "G",
          "start": 2956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "NM_000338.2:c.2741G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000329.2:p.Trp914Ter",
        "hgvsWellDefined": "NP_000329.2:p.Trp915_Ser1099delinsLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826147771",
      "coordinates": [
        {
          "allele": "A",
          "end": 2957,
          "referenceAllele": "G",
          "start": 2956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "NM_001184832.1:c.2741G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171761.1:p.Trp914Ter",
        "hgvsWellDefined": "NP_001171761.1:p.Trp915_Ser1099delinsLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3053,
          "referenceAllele": "G",
          "start": 3052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "XM_005254605.1:c.2837G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254662.1:p.Trp946Ter",
        "hgvsWellDefined": "XP_005254662.1:p.Trp947_Ser1131delinsLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060682"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2957,
          "referenceAllele": "G",
          "start": 2956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "XM_005254606.1:c.2741G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254663.1:p.Trp914Ter",
        "hgvsWellDefined": "XP_005254663.1:p.Trp915_Ser1099delinsLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060683"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3053,
          "referenceAllele": "G",
          "start": 3052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "XM_006720656.1:c.2837G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720719.1:p.Trp946Ter",
        "hgvsWellDefined": "XP_006720719.1:p.Trp947_Pro1097delinsLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuLeuArgGlyCysGlnSerGlnCysTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073748"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3054,
          "referenceAllele": "G",
          "start": 3053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "XR_931896.1:n.3054G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127969"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2956,
          "referenceAllele": "G",
          "start": 2955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "XM_005254606.2:c.2741G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254663.1:p.Trp914Ter",
        "hgvsWellDefined": "XP_005254663.1:p.Trp915_Ser1099delinsLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534145"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1001,
          "endIntronDirection": "+",
          "endIntronOffset": 1624,
          "referenceAllele": "C",
          "start": 1001,
          "startIntronDirection": "+",
          "startIntronOffset": 1623
        }
      ],
      "hgvs": [
        "XR_001751523.1:n.1001+1624C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825142680",
      "coordinates": [
        {
          "allele": "A",
          "end": 2956,
          "referenceAllele": "G",
          "start": 2955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "NM_000338.3:c.2741G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000329.2:p.Trp914Ter",
        "hgvsWellDefined": "NP_000329.2:p.Trp915_Ser1099delinsLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674796",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380993.8:c.2741G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000338.3:c.2741G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370381.3:p.Trp914Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000329.2:p.Trp914Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826147771",
      "coordinates": [
        {
          "allele": "A",
          "end": 2956,
          "referenceAllele": "G",
          "start": 2955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "NM_001184832.2:c.2741G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171761.1:p.Trp914Ter",
        "hgvsWellDefined": "NP_001171761.1:p.Trp915_Ser1099delinsLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580239828",
      "coordinates": [
        {
          "allele": "A",
          "end": 2956,
          "referenceAllele": "G",
          "start": 2955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "NM_001384136.1:c.2741G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371065.1:p.Trp914Ter",
        "hgvsWellDefined": "NP_001371065.1:p.Trp915_Ser1099delinsLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722663"
    }
  ],
  "type": "nucleotide"
}