{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA253466",
  "communityStandardTitle": [
    "NM_001365088.1(SLC12A6):c.901del (p.Ile301SerfsTer15)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20369[alleleid]",
        "alleleId": 20369,
        "preferredName": "NM_001365088.1(SLC12A6):c.901del (p.Ile301fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5330",
        "RCV": [
          "RCV000005656",
          "RCV000790224"
        ],
        "variationId": 5330
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.34546766del?assembly=hg19",
        "id": "chr15:g.34546766del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.34254565del?assembly=hg38",
        "id": "chr15:g.34254565del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/606231157",
        "rs": 606231157
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 34254565,
          "referenceAllele": "T",
          "start": 34254564
        }
      ],
      "hgvs": [
        "NC_000015.10:g.34254565del",
        "CM000677.2:g.34254565del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 34546766,
          "referenceAllele": "T",
          "start": 34546765
        }
      ],
      "hgvs": [
        "NC_000015.9:g.34546766del",
        "CM000677.1:g.34546766del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 32334058,
          "referenceAllele": "T",
          "start": 32334057
        }
      ],
      "hgvs": [
        "NC_000015.8:g.32334058del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 88500,
          "referenceAllele": "A",
          "start": 88499
        }
      ],
      "hgvs": [
        "NG_007951.1:g.88500del",
        "LRG_270:g.88500del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000719"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1423,
          "referenceAllele": "A",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000354181.8:c.901del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346112.3:p.Ile301SerfsTer15",
        "hgvsWellDefined": "ENSP00000346112.3:p.[Ile301Ser;His303_Glu310delinsThrValMetThrHis;Ala312_Leu315delinsArg;Asn317_Val330delinsGlnGlnProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748536",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354181.8:c.901del"
          },
          "RefSeq": {
            "hgvs": "NM_001365088.1:c.901del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346112.3:p.Ile301SerfsTer15"
          },
          "RefSeq": {
            "hgvs": "NP_001352017.1:p.Ile301SerfsTer15"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1683,
          "referenceAllele": "A",
          "start": 1682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000675289.1:n.1683del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775128"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1683,
          "referenceAllele": "A",
          "start": 1682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000676379.1:c.901del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502539.1:p.Ile301SerfsTer15",
        "hgvsWellDefined": "ENSP00000502539.1:p.[Ile301Ser;His303_Glu310delinsThrValMetThrHis;Ala312_Leu315delinsArg;Asn317_Val330delinsGlnGlnProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776069"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 849,
          "referenceAllele": "A",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000290209.9:c.748del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290209.5:p.Ile250SerfsTer15",
        "hgvsWellDefined": "ENSP00000290209.5:p.[Ile250Ser;His252_Glu259delinsThrValMetThrHis;Ala261_Leu264delinsArg;Asn266_Val279delinsGlnGlnProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253627"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1394,
          "referenceAllele": "A",
          "start": 1393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000354181.7:c.901del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346112.3:p.Ile301SerfsTer15",
        "hgvsWellDefined": "ENSP00000346112.3:p.[Ile301Ser;His303_Glu310delinsThrValMetThrHis;Ala312_Leu315delinsArg;Asn317_Val330delinsGlnGlnProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263033"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 922,
          "referenceAllele": "A",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000397702.6:c.724del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380814.2:p.Ile242SerfsTer15",
        "hgvsWellDefined": "ENSP00000380814.2:p.[Ile242Ser;His244_Glu251delinsThrValMetThrHis;Ala253_Leu256delinsArg;Asn258_Val271delinsGlnGlnProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277938"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1020,
          "referenceAllele": "A",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000397707.6:c.856del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380819.2:p.Ile286SerfsTer15",
        "hgvsWellDefined": "ENSP00000380819.2:p.[Ile286Ser;His288_Glu295delinsThrValMetThrHis;Ala297_Leu300delinsArg;Asn302_Val315delinsGlnGlnProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277940"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1251,
          "referenceAllele": "A",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000458406.6:c.724del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387725.2:p.Ile242SerfsTer15",
        "hgvsWellDefined": "ENSP00000387725.2:p.[Ile242Ser;His244_Glu251delinsThrValMetThrHis;Ala253_Leu256delinsArg;Asn258_Val271delinsGlnGlnProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304391"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1314,
          "referenceAllele": "A",
          "start": 1313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000558589.5:c.874del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452776.1:p.Ile292SerfsTer15",
        "hgvsWellDefined": "ENSP00000452776.1:p.[Ile292Ser;His294_Glu301delinsThrValMetThrHis;Ala303_Leu306delinsArg;Asn308_Val321delinsGlnGlnProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373919"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1004,
          "referenceAllele": "A",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000558667.5:c.901del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453473.1:p.Ile301SerfsTer15",
        "hgvsWellDefined": "ENSP00000453473.1:p.[Ile301Ser;His303_Glu310delinsThrValMetThrHis;Ala312_Leu315delinsArg;Asn317_Val330delinsGlnGlnProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373977"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1251,
          "referenceAllele": "A",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000559523.5:c.724del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452904.1:p.Ile242SerfsTer15",
        "hgvsWellDefined": "ENSP00000452904.1:p.[Ile242Ser;His244_Glu251delinsThrValMetThrHis;Ala253_Leu256delinsArg;Asn258_Val271delinsGlnGlnProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374651"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2007,
          "referenceAllele": "A",
          "start": 2006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000559664.5:c.901del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453702.1:p.Ile301SerfsTer15",
        "hgvsWellDefined": "ENSP00000453702.1:p.[Ile301Ser;His303_Glu310delinsThrValMetThrHis;Ala312_Leu315delinsArg;Asn317_Val330delinsGlnGlnProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374763"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 573,
          "referenceAllele": "A",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000560164.5:c.337del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452705.1:p.Ile113SerfsTer15",
        "hgvsWellDefined": "ENSP00000452705.1:p.[Ile113Ser;His115_Glu122delinsThrValMetThrHis;Ala124_Leu127delinsArg;Asn129_Val142delinsGlnGlnProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375147"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1065,
          "referenceAllele": "A",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000560611.5:c.901del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454168.1:p.Ile301SerfsTer15",
        "hgvsWellDefined": "ENSP00000454168.1:p.[Ile301Ser;His303_Glu310delinsThrValMetThrHis;Ala312_Leu315delinsArg;Asn317_Val330delinsGlnGlnProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375479"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2278,
          "referenceAllele": "A",
          "start": 2277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000561080.5:c.901del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454069.1:p.Ile301SerfsTer15",
        "hgvsWellDefined": "ENSP00000454069.1:p.[Ile301Ser;His303_Glu310delinsThrValMetThrHis;Ala312_Leu315delinsArg;Asn317_Val330delinsGlnGlnProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375838"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1251,
          "referenceAllele": "A",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042494.1:c.724del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035959.1:p.Ile242SerfsTer15",
        "hgvsWellDefined": "NP_001035959.1:p.[Ile242Ser;His244_Glu251delinsThrValMetThrHis;Ala253_Leu256delinsArg;Asn258_Val271delinsGlnGlnProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009723"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 926,
          "referenceAllele": "A",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042495.1:c.724del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035960.1:p.Ile242SerfsTer15",
        "hgvsWellDefined": "NP_001035960.1:p.[Ile242Ser;His244_Glu251delinsThrValMetThrHis;Ala253_Leu256delinsArg;Asn258_Val271delinsGlnGlnProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009724"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1317,
          "referenceAllele": "A",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042496.1:c.874del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035961.1:p.Ile292SerfsTer15",
        "hgvsWellDefined": "NP_001035961.1:p.[Ile292Ser;His294_Glu301delinsThrValMetThrHis;Ala303_Leu306delinsArg;Asn308_Val321delinsGlnGlnProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009725"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1020,
          "referenceAllele": "A",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042497.1:c.856del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035962.1:p.Ile286SerfsTer15",
        "hgvsWellDefined": "NP_001035962.1:p.[Ile286Ser;His288_Glu295delinsThrValMetThrHis;Ala297_Leu300delinsArg;Asn302_Val315delinsGlnGlnProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009726"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 890,
          "referenceAllele": "A",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_005135.2:c.748del",
        "LRG_270t1:c.748del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005126.1:p.Ile250SerfsTer15",
        "hgvsWellDefined": "NP_005126.1:p.[Ile250Ser;His252_Glu259delinsThrValMetThrHis;Ala261_Leu264delinsArg;Asn266_Val279delinsGlnGlnProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030257"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1065,
          "referenceAllele": "A",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_133647.1:c.901del",
        "LRG_270t2:c.901del"
      ],
      "proteinEffect": {
        "hgvs": "NP_598408.1:p.Ile301SerfsTer15",
        "hgvsWellDefined": "NP_598408.1:p.[Ile301Ser;His303_Glu310delinsThrValMetThrHis;Ala312_Leu315delinsArg;Asn317_Val330delinsGlnGlnProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040581"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 760,
          "referenceAllele": "A",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_006720793.2:c.754del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720856.1:p.Ile252SerfsTer15",
        "hgvsWellDefined": "XP_006720856.1:p.[Ile252Ser;His254_Glu261delinsThrValMetThrHis;Ala263_Leu266delinsArg;Asn268_Val281delinsGlnGlnProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073812"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1381,
          "referenceAllele": "A",
          "start": 1380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_011522267.1:c.901del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520569.1:p.Ile301SerfsTer15",
        "hgvsWellDefined": "XP_011520569.1:p.[Ile301Ser;His303_Glu310delinsThrValMetThrHis;Ala312_Leu315delinsArg;Asn317_Val330delinsGlnGlnProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089422"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1070,
          "referenceAllele": "A",
          "start": 1069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_011522268.1:c.901del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520570.1:p.Ile301SerfsTer15",
        "hgvsWellDefined": "XP_011520570.1:p.[Ile301Ser;His303_Glu310delinsThrValMetThrHis;Ala312_Leu315delinsArg;Asn317_Val330delinsGlnGlnProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089423"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 907,
          "referenceAllele": "A",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_011522269.1:c.901del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520571.1:p.Ile301SerfsTer15",
        "hgvsWellDefined": "XP_011520571.1:p.[Ile301Ser;His303_Glu310delinsThrValMetThrHis;Ala312_Leu315delinsArg;Asn317_Val330delinsGlnGlnProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089424"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 907,
          "referenceAllele": "A",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_429476.2:n.907del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118385"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 907,
          "referenceAllele": "A",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_931960.1:n.907del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128014"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 907,
          "referenceAllele": "A",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_931961.1:n.907del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128015"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1423,
          "referenceAllele": "A",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001365088.1:c.901del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352017.1:p.Ile301SerfsTer15",
        "hgvsWellDefined": "NP_001352017.1:p.[Ile301Ser;His303_Glu310delinsThrValMetThrHis;Ala312_Leu315delinsArg;Asn317_Val330delinsGlnGlnProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354181.8:c.901del"
          },
          "RefSeq": {
            "hgvs": "NM_001365088.1:c.901del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346112.3:p.Ile301SerfsTer15"
          },
          "RefSeq": {
            "hgvs": "NP_001352017.1:p.Ile301SerfsTer15"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2001,
          "referenceAllele": "A",
          "start": 2000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_006720793.4:c.754del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720856.1:p.Ile252SerfsTer15",
        "hgvsWellDefined": "XP_006720856.1:p.[Ile252Ser;His254_Glu261delinsThrValMetThrHis;Ala263_Leu266delinsArg;Asn268_Val281delinsGlnGlnProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540170"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2152,
          "referenceAllele": "A",
          "start": 2151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_011522269.3:c.901del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520571.1:p.Ile301SerfsTer15",
        "hgvsWellDefined": "XP_011520571.1:p.[Ile301Ser;His303_Glu310delinsThrValMetThrHis;Ala312_Leu315delinsArg;Asn317_Val330delinsGlnGlnProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546547"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2151,
          "referenceAllele": "A",
          "start": 2150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_931960.3:n.2151del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610074"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1272,
          "referenceAllele": "A",
          "start": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042494.2:c.724del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035959.1:p.Ile242SerfsTer15",
        "hgvsWellDefined": "NP_001035959.1:p.[Ile242Ser;His244_Glu251delinsThrValMetThrHis;Ala253_Leu256delinsArg;Asn258_Val271delinsGlnGlnProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676038"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 919,
          "referenceAllele": "A",
          "start": 918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042495.2:c.724del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035960.1:p.Ile242SerfsTer15",
        "hgvsWellDefined": "NP_001035960.1:p.[Ile242Ser;His244_Glu251delinsThrValMetThrHis;Ala253_Leu256delinsArg;Asn258_Val271delinsGlnGlnProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676039"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1338,
          "referenceAllele": "A",
          "start": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042496.2:c.874del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035961.1:p.Ile292SerfsTer15",
        "hgvsWellDefined": "NP_001035961.1:p.[Ile292Ser;His294_Glu301delinsThrValMetThrHis;Ala303_Leu306delinsArg;Asn308_Val321delinsGlnGlnProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676040"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1192,
          "referenceAllele": "A",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042497.2:c.856del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035962.1:p.Ile286SerfsTer15",
        "hgvsWellDefined": "NP_001035962.1:p.[Ile286Ser;His288_Glu295delinsThrValMetThrHis;Ala297_Leu300delinsArg;Asn302_Val315delinsGlnGlnProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676041"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1237,
          "referenceAllele": "A",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_133647.2:c.901del"
      ],
      "proteinEffect": {
        "hgvs": "NP_598408.1:p.Ile301SerfsTer15",
        "hgvsWellDefined": "NP_598408.1:p.[Ile301Ser;His303_Glu310delinsThrValMetThrHis;Ala312_Leu315delinsArg;Asn317_Val330delinsGlnGlnProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729120"
    }
  ],
  "type": "nucleotide"
}