{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA617179601",
  "communityStandardTitle": [
    "NM_001365088.1(SLC12A6):c.550del (p.Gln184LysfsTer19)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5108033",
        "active": true,
        "id": "COSM5108033"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3707816[alleleid]",
        "alleleId": 3707816,
        "preferredName": "NM_001365088.1(SLC12A6):c.550del (p.Gln184fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3577073",
        "RCV": [
          "RCV005009537"
        ],
        "variationId": 3577073
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.34549983del?assembly=hg19",
        "id": "chr15:g.34549983del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.34257782del?assembly=hg38",
        "id": "chr15:g.34257782del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057517109",
        "rs": 1057517109
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-34549982-TG-T?dataset=gnomad_r2_1",
        "id": "15-34549982-TG-T",
        "variant": "15:34549982 TG / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-34257781-TG-T?dataset=gnomad_r3",
        "id": "15-34257781-TG-T",
        "variant": "15:34257781 TG / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-34257781-TG-T?dataset=gnomad_r4",
        "id": "15-34257781-TG-T",
        "variant": "15:34257781 TG / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 34257787,
          "referenceAllele": "G",
          "start": 34257786
        }
      ],
      "hgvs": [
        "NC_000015.10:g.34257787del",
        "CM000677.2:g.34257787del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 34549988,
          "referenceAllele": "G",
          "start": 34549987
        }
      ],
      "hgvs": [
        "NC_000015.9:g.34549988del",
        "CM000677.1:g.34549988del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 32337280,
          "referenceAllele": "G",
          "start": 32337279
        }
      ],
      "hgvs": [
        "NC_000015.8:g.32337280del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 85283,
          "referenceAllele": "C",
          "start": 85282
        }
      ],
      "hgvs": [
        "NG_007951.1:g.85283del",
        "LRG_270:g.85283del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000719"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1072,
          "referenceAllele": "C",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000354181.8:c.550del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346112.3:p.Gln184LysfsTer19",
        "hgvsWellDefined": "ENSP00000346112.3:p.[Gln184_Gly190delinsLysTrpValProSerTrp;Tyr192_Asn198delinsSerThrSerHisValTyrLys;Gly201_Ile203del;Phe205_Gly213delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748536",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354181.8:c.550del"
          },
          "RefSeq": {
            "hgvs": "NM_001365088.1:c.550del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346112.3:p.Gln184LysfsTer19"
          },
          "RefSeq": {
            "hgvs": "NP_001352017.1:p.Gln184LysfsTer19"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1332,
          "referenceAllele": "C",
          "start": 1331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000675289.1:n.1332del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775128"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1332,
          "referenceAllele": "C",
          "start": 1331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000676379.1:c.550del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502539.1:p.Gln184LysfsTer19",
        "hgvsWellDefined": "ENSP00000502539.1:p.[Gln184_Gly190delinsLysTrpValProSerTrp;Tyr192_Asn198delinsSerThrSerHisValTyrLys;Gly201_Ile203del;Phe205_Gly213delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776069"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 498,
          "referenceAllele": "C",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000290209.9:c.397del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290209.5:p.Gln133LysfsTer19",
        "hgvsWellDefined": "ENSP00000290209.5:p.[Gln133_Gly139delinsLysTrpValProSerTrp;Tyr141_Asn147delinsSerThrSerHisValTyrLys;Gly150_Ile152del;Phe154_Gly162delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253627"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1043,
          "referenceAllele": "C",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000354181.7:c.550del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346112.3:p.Gln184LysfsTer19",
        "hgvsWellDefined": "ENSP00000346112.3:p.[Gln184_Gly190delinsLysTrpValProSerTrp;Tyr192_Asn198delinsSerThrSerHisValTyrLys;Gly201_Ile203del;Phe205_Gly213delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263033"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000397702.6:c.373del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380814.2:p.Gln125LysfsTer19",
        "hgvsWellDefined": "ENSP00000380814.2:p.[Gln125_Gly131delinsLysTrpValProSerTrp;Tyr133_Asn139delinsSerThrSerHisValTyrLys;Gly142_Ile144del;Phe146_Gly154delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277938"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 669,
          "referenceAllele": "C",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000397707.6:c.505del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380819.2:p.Gln169LysfsTer19",
        "hgvsWellDefined": "ENSP00000380819.2:p.[Gln169_Gly175delinsLysTrpValProSerTrp;Tyr177_Asn183delinsSerThrSerHisValTyrLys;Gly186_Ile188del;Phe190_Gly198delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277940"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 900,
          "referenceAllele": "C",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000458406.6:c.373del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387725.2:p.Gln125LysfsTer19",
        "hgvsWellDefined": "ENSP00000387725.2:p.[Gln125_Gly131delinsLysTrpValProSerTrp;Tyr133_Asn139delinsSerThrSerHisValTyrLys;Gly142_Ile144del;Phe146_Gly154delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304391"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 963,
          "referenceAllele": "C",
          "start": 962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000558589.5:c.523del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452776.1:p.Gln175LysfsTer19",
        "hgvsWellDefined": "ENSP00000452776.1:p.[Gln175_Gly181delinsLysTrpValProSerTrp;Tyr183_Asn189delinsSerThrSerHisValTyrLys;Gly192_Ile194del;Phe196_Gly204delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373919"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 653,
          "referenceAllele": "C",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000558667.5:c.550del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453473.1:p.Gln184LysfsTer19",
        "hgvsWellDefined": "ENSP00000453473.1:p.[Gln184_Gly190delinsLysTrpValProSerTrp;Tyr192_Asn198delinsSerThrSerHisValTyrLys;Gly201_Ile203del;Phe205_Gly213delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373977"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 900,
          "referenceAllele": "C",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000559523.5:c.373del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452904.1:p.Gln125LysfsTer19",
        "hgvsWellDefined": "ENSP00000452904.1:p.[Gln125_Gly131delinsLysTrpValProSerTrp;Tyr133_Asn139delinsSerThrSerHisValTyrLys;Gly142_Ile144del;Phe146_Gly154delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374651"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1656,
          "referenceAllele": "C",
          "start": 1655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000559664.5:c.550del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453702.1:p.Gln184LysfsTer19",
        "hgvsWellDefined": "ENSP00000453702.1:p.[Gln184_Gly190delinsLysTrpValProSerTrp;Tyr192_Asn198delinsSerThrSerHisValTyrLys;Gly201_Ile203del;Phe205_Gly213delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374763"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 362,
          "endIntronDirection": "+",
          "endIntronOffset": 1031,
          "referenceAllele": "C",
          "start": 362,
          "startIntronDirection": "+",
          "startIntronOffset": 1030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000560164.5:c.126+1031del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452705.1:n.126+1031del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375147"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 302,
          "referenceAllele": "C",
          "start": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000560332.1:c.133del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454037.1:p.Gln45LysfsTer19",
        "hgvsWellDefined": "ENSP00000454037.1:p.[Gln45_Gly51delinsLysTrpValProSerTrp;Tyr53_Asn59delinsSerThrSerHisValTyrLys;Gly62_Ile64del;Phe66_Gly74delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375273"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 714,
          "referenceAllele": "C",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000560611.5:c.550del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454168.1:p.Gln184LysfsTer19",
        "hgvsWellDefined": "ENSP00000454168.1:p.[Gln184_Gly190delinsLysTrpValProSerTrp;Tyr192_Asn198delinsSerThrSerHisValTyrLys;Gly201_Ile203del;Phe205_Gly213delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375479"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1927,
          "referenceAllele": "C",
          "start": 1926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000561080.5:c.550del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454069.1:p.Gln184LysfsTer19",
        "hgvsWellDefined": "ENSP00000454069.1:p.[Gln184_Gly190delinsLysTrpValProSerTrp;Tyr192_Asn198delinsSerThrSerHisValTyrLys;Gly201_Ile203del;Phe205_Gly213delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375838"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 900,
          "referenceAllele": "C",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042494.1:c.373del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035959.1:p.Gln125LysfsTer19",
        "hgvsWellDefined": "NP_001035959.1:p.[Gln125_Gly131delinsLysTrpValProSerTrp;Tyr133_Asn139delinsSerThrSerHisValTyrLys;Gly142_Ile144del;Phe146_Gly154delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009723"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 575,
          "referenceAllele": "C",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042495.1:c.373del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035960.1:p.Gln125LysfsTer19",
        "hgvsWellDefined": "NP_001035960.1:p.[Gln125_Gly131delinsLysTrpValProSerTrp;Tyr133_Asn139delinsSerThrSerHisValTyrLys;Gly142_Ile144del;Phe146_Gly154delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009724"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 966,
          "referenceAllele": "C",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042496.1:c.523del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035961.1:p.Gln175LysfsTer19",
        "hgvsWellDefined": "NP_001035961.1:p.[Gln175_Gly181delinsLysTrpValProSerTrp;Tyr183_Asn189delinsSerThrSerHisValTyrLys;Gly192_Ile194del;Phe196_Gly204delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009725"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 669,
          "referenceAllele": "C",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042497.1:c.505del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035962.1:p.Gln169LysfsTer19",
        "hgvsWellDefined": "NP_001035962.1:p.[Gln169_Gly175delinsLysTrpValProSerTrp;Tyr177_Asn183delinsSerThrSerHisValTyrLys;Gly186_Ile188del;Phe190_Gly198delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009726"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 539,
          "referenceAllele": "C",
          "start": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_005135.2:c.397del",
        "LRG_270t1:c.397del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005126.1:p.Gln133LysfsTer19",
        "hgvsWellDefined": "NP_005126.1:p.[Gln133_Gly139delinsLysTrpValProSerTrp;Tyr141_Asn147delinsSerThrSerHisValTyrLys;Gly150_Ile152del;Phe154_Gly162delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030257"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 714,
          "referenceAllele": "C",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_133647.1:c.550del",
        "LRG_270t2:c.550del"
      ],
      "proteinEffect": {
        "hgvs": "NP_598408.1:p.Gln184LysfsTer19",
        "hgvsWellDefined": "NP_598408.1:p.[Gln184_Gly190delinsLysTrpValProSerTrp;Tyr192_Asn198delinsSerThrSerHisValTyrLys;Gly201_Ile203del;Phe205_Gly213delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040581"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 549,
          "endIntronDirection": "+",
          "endIntronOffset": 1031,
          "referenceAllele": "C",
          "start": 549,
          "startIntronDirection": "+",
          "startIntronOffset": 1030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_006720793.2:c.543+1031del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720856.1:n.543+1031del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073812"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1030,
          "referenceAllele": "C",
          "start": 1029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_011522267.1:c.550del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520569.1:p.Gln184LysfsTer19",
        "hgvsWellDefined": "XP_011520569.1:p.[Gln184_Gly190delinsLysTrpValProSerTrp;Tyr192_Asn198delinsSerThrSerHisValTyrLys;Gly201_Ile203del;Phe205_Gly213delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089422"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 719,
          "referenceAllele": "C",
          "start": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_011522268.1:c.550del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520570.1:p.Gln184LysfsTer19",
        "hgvsWellDefined": "XP_011520570.1:p.[Gln184_Gly190delinsLysTrpValProSerTrp;Tyr192_Asn198delinsSerThrSerHisValTyrLys;Gly201_Ile203del;Phe205_Gly213delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089423"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 556,
          "referenceAllele": "C",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_011522269.1:c.550del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520571.1:p.Gln184LysfsTer19",
        "hgvsWellDefined": "XP_011520571.1:p.[Gln184_Gly190delinsLysTrpValProSerTrp;Tyr192_Asn198delinsSerThrSerHisValTyrLys;Gly201_Ile203del;Phe205_Gly213delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089424"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 556,
          "referenceAllele": "C",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_429476.2:n.556del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118385"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 556,
          "referenceAllele": "C",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_931960.1:n.556del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128014"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 556,
          "referenceAllele": "C",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_931961.1:n.556del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128015"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1072,
          "referenceAllele": "C",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001365088.1:c.550del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352017.1:p.Gln184LysfsTer19",
        "hgvsWellDefined": "NP_001352017.1:p.[Gln184_Gly190delinsLysTrpValProSerTrp;Tyr192_Asn198delinsSerThrSerHisValTyrLys;Gly201_Ile203del;Phe205_Gly213delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354181.8:c.550del"
          },
          "RefSeq": {
            "hgvs": "NM_001365088.1:c.550del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346112.3:p.Gln184LysfsTer19"
          },
          "RefSeq": {
            "hgvs": "NP_001352017.1:p.Gln184LysfsTer19"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1790,
          "endIntronDirection": "+",
          "endIntronOffset": 1031,
          "referenceAllele": "C",
          "start": 1790,
          "startIntronDirection": "+",
          "startIntronOffset": 1030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_006720793.4:c.543+1031del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720856.1:n.543+1031del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540170"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1801,
          "referenceAllele": "C",
          "start": 1800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_011522269.3:c.550del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520571.1:p.Gln184LysfsTer19",
        "hgvsWellDefined": "XP_011520571.1:p.[Gln184_Gly190delinsLysTrpValProSerTrp;Tyr192_Asn198delinsSerThrSerHisValTyrLys;Gly201_Ile203del;Phe205_Gly213delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546547"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1800,
          "referenceAllele": "C",
          "start": 1799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_931960.3:n.1800del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610074"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 921,
          "referenceAllele": "C",
          "start": 920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042494.2:c.373del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035959.1:p.Gln125LysfsTer19",
        "hgvsWellDefined": "NP_001035959.1:p.[Gln125_Gly131delinsLysTrpValProSerTrp;Tyr133_Asn139delinsSerThrSerHisValTyrLys;Gly142_Ile144del;Phe146_Gly154delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676038"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 568,
          "referenceAllele": "C",
          "start": 567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042495.2:c.373del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035960.1:p.Gln125LysfsTer19",
        "hgvsWellDefined": "NP_001035960.1:p.[Gln125_Gly131delinsLysTrpValProSerTrp;Tyr133_Asn139delinsSerThrSerHisValTyrLys;Gly142_Ile144del;Phe146_Gly154delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676039"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 987,
          "referenceAllele": "C",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042496.2:c.523del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035961.1:p.Gln175LysfsTer19",
        "hgvsWellDefined": "NP_001035961.1:p.[Gln175_Gly181delinsLysTrpValProSerTrp;Tyr183_Asn189delinsSerThrSerHisValTyrLys;Gly192_Ile194del;Phe196_Gly204delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676040"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 841,
          "referenceAllele": "C",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042497.2:c.505del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035962.1:p.Gln169LysfsTer19",
        "hgvsWellDefined": "NP_001035962.1:p.[Gln169_Gly175delinsLysTrpValProSerTrp;Tyr177_Asn183delinsSerThrSerHisValTyrLys;Gly186_Ile188del;Phe190_Gly198delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676041"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 886,
          "referenceAllele": "C",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_133647.2:c.550del"
      ],
      "proteinEffect": {
        "hgvs": "NP_598408.1:p.Gln184LysfsTer19",
        "hgvsWellDefined": "NP_598408.1:p.[Gln184_Gly190delinsLysTrpValProSerTrp;Tyr192_Asn198delinsSerThrSerHisValTyrLys;Gly201_Ile203del;Phe205_Gly213delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729120"
    }
  ],
  "type": "nucleotide"
}