{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA351357",
  "communityStandardTitle": [
    "NM_018191.4(RCBTB1):c.707del (p.Asn236ThrfsTer11)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=226406[alleleid]",
        "alleleId": 226406,
        "preferredName": "NM_018191.4(RCBTB1):c.707del (p.Asn236fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/224622",
        "RCV": [
          "RCV000210228",
          "RCV001042886",
          "RCV002250599"
        ],
        "variationId": 224622
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-50126317-GT-G",
        "id": "13-50126317-GT-G",
        "variant": "13:50126317 GT / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.50126318del?assembly=hg19",
        "id": "chr13:g.50126318del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.49552182del?assembly=hg38",
        "id": "chr13:g.49552182del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/777630688",
        "rs": 777630688
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-50126317-GT-G?dataset=gnomad_r2_1",
        "id": "13-50126317-GT-G",
        "variant": "13:50126317 GT / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-49552181-GT-G?dataset=gnomad_r3",
        "id": "13-49552181-GT-G",
        "variant": "13:49552181 GT / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-49552181-GT-G?dataset=gnomad_r4",
        "id": "13-49552181-GT-G",
        "variant": "13:49552181 GT / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "",
          "end": 49552183,
          "referenceAllele": "T",
          "start": 49552182
        }
      ],
      "hgvs": [
        "NC_000013.11:g.49552183del",
        "CM000675.2:g.49552183del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "",
          "end": 50126319,
          "referenceAllele": "T",
          "start": 50126318
        }
      ],
      "hgvs": [
        "NC_000013.10:g.50126319del",
        "CM000675.1:g.50126319del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "",
          "end": 49024320,
          "referenceAllele": "T",
          "start": 49024319
        }
      ],
      "hgvs": [
        "NC_000013.9:g.49024320del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 38425,
          "referenceAllele": "A",
          "start": 38424
        }
      ],
      "hgvs": [
        "NG_046892.1:g.38425del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616429"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 943,
          "referenceAllele": "A",
          "start": 942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018243",
      "geneNCBI_id": 55213,
      "geneSymbol": "RCBTB1",
      "hgvs": [
        "ENST00000378302.7:c.707del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367552.2:p.Asn236ThrfsTer11",
        "hgvsWellDefined": "ENSP00000367552.2:p.[Asn236_His244del;Leu246_Ala247delinsArg;Thr249_Tyr255delinsSer;Trp257_Asn260delinsVal;Tyr262_Gln264delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752063",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378302.7:c.707del"
          },
          "RefSeq": {
            "hgvs": "NM_018191.4:c.707del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367552.2:p.Asn236ThrfsTer11"
          },
          "RefSeq": {
            "hgvs": "NP_060661.3:p.Asn236ThrfsTer11"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 751,
          "referenceAllele": "A",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018243",
      "geneNCBI_id": 55213,
      "geneSymbol": "RCBTB1",
      "hgvs": [
        "ENST00000258646.3:c.707del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258646.3:p.Asn236ThrfsTer11",
        "hgvsWellDefined": "ENSP00000258646.3:p.[Asn236_His244del;Leu246_Ala247delinsArg;Thr249_Tyr255delinsSer;Trp257_Asn260delinsVal;Tyr262_Gln264delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250406"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 968,
          "referenceAllele": "A",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018243",
      "geneNCBI_id": 55213,
      "geneSymbol": "RCBTB1",
      "hgvs": [
        "ENST00000378302.6:c.707del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367552.2:p.Asn236ThrfsTer11",
        "hgvsWellDefined": "ENSP00000367552.2:p.[Asn236_His244del;Leu246_Ala247delinsArg;Thr249_Tyr255delinsSer;Trp257_Asn260delinsVal;Tyr262_Gln264delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271979"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 71,
          "referenceAllele": "A",
          "start": 70
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018243",
      "geneNCBI_id": 55213,
      "geneSymbol": "RCBTB1",
      "hgvs": [
        "ENST00000490058.1:n.71del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327978"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 968,
          "referenceAllele": "A",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018243",
      "geneNCBI_id": 55213,
      "geneSymbol": "RCBTB1",
      "hgvs": [
        "NM_018191.3:c.707del"
      ],
      "proteinEffect": {
        "hgvs": "NP_060661.3:p.Asn236ThrfsTer11",
        "hgvsWellDefined": "NP_060661.3:p.[Asn236_His244del;Leu246_Ala247delinsArg;Thr249_Tyr255delinsSer;Trp257_Asn260delinsVal;Tyr262_Gln264delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035529"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 888,
          "referenceAllele": "A",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018243",
      "geneNCBI_id": 55213,
      "geneSymbol": "RCBTB1",
      "hgvs": [
        "XM_005266441.2:c.707del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266498.1:p.Asn236ThrfsTer11",
        "hgvsWellDefined": "XP_005266498.1:p.[Asn236_His244del;Leu246_Ala247delinsArg;Thr249_Tyr255delinsSer;Trp257_Asn260delinsVal;Tyr262_Gln264delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065058"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 994,
          "referenceAllele": "A",
          "start": 993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018243",
      "geneNCBI_id": 55213,
      "geneSymbol": "RCBTB1",
      "hgvs": [
        "XM_011535133.1:c.707del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533435.1:p.Asn236ThrfsTer11",
        "hgvsWellDefined": "XP_011533435.1:p.[Asn236_His244del;Leu246_Ala247delinsArg;Thr249_Tyr255delinsSer;Trp257_Asn260delinsVal;Tyr262_Gln264delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102142"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 894,
          "referenceAllele": "A",
          "start": 893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018243",
      "geneNCBI_id": 55213,
      "geneSymbol": "RCBTB1",
      "hgvs": [
        "XM_011535134.1:c.707del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533436.1:p.Asn236ThrfsTer11",
        "hgvsWellDefined": "XP_011533436.1:p.[Asn236_His244del;Leu246_Ala247delinsArg;Thr249_Tyr255delinsSer;Trp257_Asn260delinsVal;Tyr262_Gln264delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102143"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 780,
          "referenceAllele": "A",
          "start": 779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018243",
      "geneNCBI_id": 55213,
      "geneSymbol": "RCBTB1",
      "hgvs": [
        "XM_011535135.1:c.320del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533437.1:p.Asn107ThrfsTer11",
        "hgvsWellDefined": "XP_011533437.1:p.[Asn107_His115del;Leu117_Ala118delinsArg;Thr120_Tyr126delinsSer;Trp128_Asn131delinsVal;Tyr133_Gln135delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102144"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 972,
          "referenceAllele": "A",
          "start": 971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018243",
      "geneNCBI_id": 55213,
      "geneSymbol": "RCBTB1",
      "hgvs": [
        "XM_011535136.1:c.707del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533438.1:p.Asn236ThrfsTer11",
        "hgvsWellDefined": "XP_011533438.1:p.[Asn236_His244del;Leu246_Ala247delinsArg;Thr249_Tyr255delinsSer;Trp257_Asn260delinsVal;Tyr262_Gln264delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102145"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 972,
          "referenceAllele": "A",
          "start": 971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018243",
      "geneNCBI_id": 55213,
      "geneSymbol": "RCBTB1",
      "hgvs": [
        "XR_245392.1:n.972del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116964"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 972,
          "referenceAllele": "A",
          "start": 971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018243",
      "geneNCBI_id": 55213,
      "geneSymbol": "RCBTB1",
      "hgvs": [
        "XR_941613.1:n.972del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136200"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 972,
          "referenceAllele": "A",
          "start": 971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018243",
      "geneNCBI_id": 55213,
      "geneSymbol": "RCBTB1",
      "hgvs": [
        "XR_941614.1:n.972del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136201"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 971,
          "referenceAllele": "A",
          "start": 970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018243",
      "geneNCBI_id": 55213,
      "geneSymbol": "RCBTB1",
      "hgvs": [
        "NM_001352500.1:c.707del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339429.1:p.Asn236ThrfsTer11",
        "hgvsWellDefined": "NP_001339429.1:p.[Asn236_His244del;Leu246_Ala247delinsArg;Thr249_Tyr255delinsSer;Trp257_Asn260delinsVal;Tyr262_Gln264delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520941"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 888,
          "referenceAllele": "A",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018243",
      "geneNCBI_id": 55213,
      "geneSymbol": "RCBTB1",
      "hgvs": [
        "NM_001352501.1:c.707del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339430.1:p.Asn236ThrfsTer11",
        "hgvsWellDefined": "NP_001339430.1:p.[Asn236_His244del;Leu246_Ala247delinsArg;Thr249_Tyr255delinsSer;Trp257_Asn260delinsVal;Tyr262_Gln264delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520942"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 891,
          "referenceAllele": "A",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018243",
      "geneNCBI_id": 55213,
      "geneSymbol": "RCBTB1",
      "hgvs": [
        "NM_001352502.1:c.707del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339431.1:p.Asn236ThrfsTer11",
        "hgvsWellDefined": "NP_001339431.1:p.[Asn236_His244del;Leu246_Ala247delinsArg;Thr249_Tyr255delinsSer;Trp257_Asn260delinsVal;Tyr262_Gln264delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520943"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 964,
          "referenceAllele": "A",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018243",
      "geneNCBI_id": 55213,
      "geneSymbol": "RCBTB1",
      "hgvs": [
        "NM_001352503.1:c.707del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339432.1:p.Asn236ThrfsTer11",
        "hgvsWellDefined": "NP_001339432.1:p.[Asn236_His244del;Leu246_Ala247delinsArg;Thr249_Tyr255delinsSer;Trp257_Asn260delinsVal;Tyr262_Gln264delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520944"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 968,
          "referenceAllele": "A",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018243",
      "geneNCBI_id": 55213,
      "geneSymbol": "RCBTB1",
      "hgvs": [
        "NM_001352504.1:c.707del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339433.1:p.Asn236ThrfsTer11",
        "hgvsWellDefined": "NP_001339433.1:p.[Asn236_His244del;Leu246_Ala247delinsArg;Thr249_Tyr255delinsSer;Trp257_Asn260delinsVal;Tyr262_Gln264delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520945"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 968,
          "referenceAllele": "A",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018243",
      "geneNCBI_id": 55213,
      "geneSymbol": "RCBTB1",
      "hgvs": [
        "NM_001352505.1:c.707del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339434.1:p.Asn236ThrfsTer11",
        "hgvsWellDefined": "NP_001339434.1:p.[Asn236_His244del;Leu246_Ala247delinsArg;Thr249_Tyr255delinsSer;Trp257_Asn260delinsVal;Tyr262_Gln264delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520946"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 998,
          "referenceAllele": "A",
          "start": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018243",
      "geneNCBI_id": 55213,
      "geneSymbol": "RCBTB1",
      "hgvs": [
        "NM_001352506.1:c.128del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339435.1:p.Asn43ThrfsTer11",
        "hgvsWellDefined": "NP_001339435.1:p.[Asn43_His51del;Leu53_Ala54delinsArg;Thr56_Tyr62delinsSer;Trp64_Asn67delinsVal;Tyr69_Gln71delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520947"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 968,
          "referenceAllele": "A",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018243",
      "geneNCBI_id": 55213,
      "geneSymbol": "RCBTB1",
      "hgvs": [
        "NR_148015.1:n.968del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530989"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 968,
          "referenceAllele": "A",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018243",
      "geneNCBI_id": 55213,
      "geneSymbol": "RCBTB1",
      "hgvs": [
        "NR_148016.1:n.968del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530990"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 852,
          "referenceAllele": "A",
          "start": 851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018243",
      "geneNCBI_id": 55213,
      "geneSymbol": "RCBTB1",
      "hgvs": [
        "XM_011535135.2:c.320del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533437.1:p.Asn107ThrfsTer11",
        "hgvsWellDefined": "XP_011533437.1:p.[Asn107_His115del;Leu117_Ala118delinsArg;Thr120_Tyr126delinsSer;Trp128_Asn131delinsVal;Tyr133_Gln135delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551911"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 972,
          "referenceAllele": "A",
          "start": 971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018243",
      "geneNCBI_id": 55213,
      "geneSymbol": "RCBTB1",
      "hgvs": [
        "XM_011535136.2:c.707del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533438.1:p.Asn236ThrfsTer11",
        "hgvsWellDefined": "XP_011533438.1:p.[Asn236_His244del;Leu246_Ala247delinsArg;Thr249_Tyr255delinsSer;Trp257_Asn260delinsVal;Tyr262_Gln264delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551912"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 972,
          "referenceAllele": "A",
          "start": 971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018243",
      "geneNCBI_id": 55213,
      "geneSymbol": "RCBTB1",
      "hgvs": [
        "XR_001749596.1:n.972del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597343"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 943,
          "referenceAllele": "A",
          "start": 942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018243",
      "geneNCBI_id": 55213,
      "geneSymbol": "RCBTB1",
      "hgvs": [
        "NM_018191.4:c.707del"
      ],
      "proteinEffect": {
        "hgvs": "NP_060661.3:p.Asn236ThrfsTer11",
        "hgvsWellDefined": "NP_060661.3:p.[Asn236_His244del;Leu246_Ala247delinsArg;Thr249_Tyr255delinsSer;Trp257_Asn260delinsVal;Tyr262_Gln264delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669550",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378302.7:c.707del"
          },
          "RefSeq": {
            "hgvs": "NM_018191.4:c.707del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367552.2:p.Asn236ThrfsTer11"
          },
          "RefSeq": {
            "hgvs": "NP_060661.3:p.Asn236ThrfsTer11"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 946,
          "referenceAllele": "A",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018243",
      "geneNCBI_id": 55213,
      "geneSymbol": "RCBTB1",
      "hgvs": [
        "NM_001352500.2:c.707del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339429.1:p.Asn236ThrfsTer11",
        "hgvsWellDefined": "NP_001339429.1:p.[Asn236_His244del;Leu246_Ala247delinsArg;Thr249_Tyr255delinsSer;Trp257_Asn260delinsVal;Tyr262_Gln264delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689281"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 863,
          "referenceAllele": "A",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018243",
      "geneNCBI_id": 55213,
      "geneSymbol": "RCBTB1",
      "hgvs": [
        "NM_001352501.2:c.707del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339430.1:p.Asn236ThrfsTer11",
        "hgvsWellDefined": "NP_001339430.1:p.[Asn236_His244del;Leu246_Ala247delinsArg;Thr249_Tyr255delinsSer;Trp257_Asn260delinsVal;Tyr262_Gln264delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689282"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 866,
          "referenceAllele": "A",
          "start": 865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018243",
      "geneNCBI_id": 55213,
      "geneSymbol": "RCBTB1",
      "hgvs": [
        "NM_001352502.2:c.707del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339431.1:p.Asn236ThrfsTer11",
        "hgvsWellDefined": "NP_001339431.1:p.[Asn236_His244del;Leu246_Ala247delinsArg;Thr249_Tyr255delinsSer;Trp257_Asn260delinsVal;Tyr262_Gln264delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689283"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 939,
          "referenceAllele": "A",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018243",
      "geneNCBI_id": 55213,
      "geneSymbol": "RCBTB1",
      "hgvs": [
        "NM_001352503.2:c.707del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339432.1:p.Asn236ThrfsTer11",
        "hgvsWellDefined": "NP_001339432.1:p.[Asn236_His244del;Leu246_Ala247delinsArg;Thr249_Tyr255delinsSer;Trp257_Asn260delinsVal;Tyr262_Gln264delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689284"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 943,
          "referenceAllele": "A",
          "start": 942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018243",
      "geneNCBI_id": 55213,
      "geneSymbol": "RCBTB1",
      "hgvs": [
        "NM_001352505.2:c.707del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339434.1:p.Asn236ThrfsTer11",
        "hgvsWellDefined": "NP_001339434.1:p.[Asn236_His244del;Leu246_Ala247delinsArg;Thr249_Tyr255delinsSer;Trp257_Asn260delinsVal;Tyr262_Gln264delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689285"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 973,
          "referenceAllele": "A",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018243",
      "geneNCBI_id": 55213,
      "geneSymbol": "RCBTB1",
      "hgvs": [
        "NM_001352506.2:c.128del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339435.1:p.Asn43ThrfsTer11",
        "hgvsWellDefined": "NP_001339435.1:p.[Asn43_His51del;Leu53_Ala54delinsArg;Thr56_Tyr62delinsSer;Trp64_Asn67delinsVal;Tyr69_Gln71delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689286"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 943,
          "referenceAllele": "A",
          "start": 942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018243",
      "geneNCBI_id": 55213,
      "geneSymbol": "RCBTB1",
      "hgvs": [
        "NR_148015.2:n.943del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704667"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 943,
          "referenceAllele": "A",
          "start": 942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018243",
      "geneNCBI_id": 55213,
      "geneSymbol": "RCBTB1",
      "hgvs": [
        "NR_148016.2:n.943del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704668"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 943,
          "referenceAllele": "A",
          "start": 942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018243",
      "geneNCBI_id": 55213,
      "geneSymbol": "RCBTB1",
      "hgvs": [
        "NM_001352504.2:c.707del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339433.1:p.Asn236ThrfsTer11",
        "hgvsWellDefined": "NP_001339433.1:p.[Asn236_His244del;Leu246_Ala247delinsArg;Thr249_Tyr255delinsSer;Trp257_Asn260delinsVal;Tyr262_Gln264delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720069"
    }
  ],
  "type": "nucleotide"
}