{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16616296",
  "communityStandardTitle": [
    "NM_003073.5(SMARCB1):c.969_976del (p.Lys324ArgfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=403784[alleleid]",
        "alleleId": 403784,
        "preferredName": "NM_003073.5(SMARCB1):c.969_976del (p.Lys324fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/410704",
        "RCV": [
          "RCV001387723"
        ],
        "variationId": 410704
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.24167585_24167592del?assembly=hg19",
        "id": "chr22:g.24167585_24167592del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.23825398_23825405del?assembly=hg38",
        "id": "chr22:g.23825398_23825405del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060503017",
        "rs": 1060503017
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "",
          "end": 23825405,
          "referenceAllele": "GAAGACCT",
          "start": 23825397
        }
      ],
      "hgvs": [
        "NC_000022.11:g.23825398_23825405del",
        "CM000684.2:g.23825398_23825405del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "",
          "end": 24167592,
          "referenceAllele": "GAAGACCT",
          "start": 24167584
        }
      ],
      "hgvs": [
        "NC_000022.10:g.24167585_24167592del",
        "CM000684.1:g.24167585_24167592del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "",
          "end": 22497592,
          "referenceAllele": "GAAGACCT",
          "start": 22497584
        }
      ],
      "hgvs": [
        "NC_000022.9:g.22497585_22497592del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 43443,
          "referenceAllele": "GAAGACCT",
          "start": 43435
        }
      ],
      "hgvs": [
        "NG_009303.1:g.43436_43443del",
        "LRG_520:g.43436_43443del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001558"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 997,
          "referenceAllele": "GAAGACCT",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000263121.12:c.831_838del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263121.8:p.Lys278ArgfsTer?",
        "hgvsWellDefined": "ENSP00000263121.8:p.[Lys278_Ser283delinsArgLeuGlnArg;Asn285del;Leu287_Thr297delinsSerAlaHisSerGlyAspCysHisProGluHis;Asp299_Cys304delinsArgCysGlyProValVal;Leu306_Thr309delinsThrAlaGlyAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742458"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1210,
          "referenceAllele": "GAAGACCT",
          "start": 1202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000344921.11:c.996_1003del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340883.6:p.Lys333ArgfsTer?",
        "hgvsWellDefined": "ENSP00000340883.6:p.[Lys333_Ser338delinsArgLeuGlnArg;Asn340del;Leu342_Thr352delinsSerAlaHisSerGlyAspCysHisProGluHis;Asp354_Cys359delinsArgCysGlyProValVal;Leu361_Thr364delinsThrAlaGlyAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748262"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1188,
          "referenceAllele": "GAAGACCT",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000407422.8:c.942_949del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383984.3:p.Lys315ArgfsTer?",
        "hgvsWellDefined": "ENSP00000383984.3:p.[Lys315_Ser320delinsArgLeuGlnArg;Asn322del;Leu324_Thr334delinsSerAlaHisSerGlyAspCysHisProGluHis;Asp336_Cys341delinsArgCysGlyProValVal;Leu343_Thr346delinsThrAlaGlyAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754194"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2127,
          "referenceAllele": "GAAGACCT",
          "start": 2119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000477836.2:n.2120_2127del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757239"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1180,
          "referenceAllele": "GAAGACCT",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000644036.2:c.969_976del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494049.2:p.Lys324ArgfsTer?",
        "hgvsWellDefined": "ENSP00000494049.2:p.[Lys324_Ser329delinsArgLeuGlnArg;Asn331del;Leu333_Thr343delinsSerAlaHisSerGlyAspCysHisProGluHis;Asp345_Cys350delinsArgCysGlyProValVal;Leu352_Thr355delinsThrAlaGlyAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767601",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644036.2:c.969_976del"
          },
          "RefSeq": {
            "hgvs": "NM_003073.5:c.969_976del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494049.2:p.Lys324ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_003064.2:p.Lys324ArgfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1694,
          "referenceAllele": "GAAGACCT",
          "start": 1686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000644462.1:c.1687_1694del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494283.1:n.1687_1694del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767825"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2298,
          "referenceAllele": "GAAGACCT",
          "start": 2290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000645799.1:n.2291_2298del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768550"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3322,
          "referenceAllele": "GAAGACCT",
          "start": 3314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000646723.1:n.3315_3322del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769032"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 888,
          "referenceAllele": "GAAGACCT",
          "start": 880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000646911.1:n.881_888del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769134"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 894,
          "referenceAllele": "GAAGACCT",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000647057.1:c.*463_*470del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494757.1:n.*463_*470del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769211"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1172,
          "referenceAllele": "GAAGACCT",
          "start": 1164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000263121.11:c.969_976del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263121.7:p.Lys324ArgfsTer?",
        "hgvsWellDefined": "ENSP00000263121.7:p.[Lys324_Ser329delinsArgLeuGlnArg;Asn331del;Leu333_Thr343delinsSerAlaHisSerGlyAspCysHisProGluHis;Asp345_Cys350delinsArgCysGlyProValVal;Leu352_Thr355delinsThrAlaGlyAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251197"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1210,
          "referenceAllele": "GAAGACCT",
          "start": 1202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000344921.10:c.996_1003del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340883.6:p.Lys333ArgfsTer?",
        "hgvsWellDefined": "ENSP00000340883.6:p.[Lys333_Ser338delinsArgLeuGlnArg;Asn340del;Leu342_Thr352delinsSerAlaHisSerGlyAspCysHisProGluHis;Asp354_Cys359delinsArgCysGlyProValVal;Leu361_Thr364delinsThrAlaGlyAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262091"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 997,
          "referenceAllele": "GAAGACCT",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000407082.3:c.831_838del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385226.3:p.Lys278ArgfsTer?",
        "hgvsWellDefined": "ENSP00000385226.3:p.[Lys278_Ser283delinsArgLeuGlnArg;Asn285del;Leu287_Thr297delinsSerAlaHisSerGlyAspCysHisProGluHis;Asp299_Cys304delinsArgCysGlyProValVal;Leu306_Thr309delinsThrAlaGlyAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280830"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1125,
          "referenceAllele": "GAAGACCT",
          "start": 1117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "ENST00000407422.7:c.942_949del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383984.3:p.Lys315ArgfsTer?",
        "hgvsWellDefined": "ENSP00000383984.3:p.[Lys315_Ser320delinsArgLeuGlnArg;Asn322del;Leu324_Thr334delinsSerAlaHisSerGlyAspCysHisProGluHis;Asp336_Cys341delinsArgCysGlyProValVal;Leu343_Thr346delinsThrAlaGlyAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280908"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1156,
          "referenceAllele": "GAAGACCT",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "NM_001007468.1:c.942_949del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001007469.1:p.Lys315ArgfsTer?",
        "hgvsWellDefined": "NP_001007469.1:p.[Lys315_Ser320delinsArgLeuGlnArg;Asn322del;Leu324_Thr334delinsSerAlaHisSerGlyAspCysHisProGluHis;Asp336_Cys341delinsArgCysGlyProValVal;Leu343_Thr346delinsThrAlaGlyAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007933"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1183,
          "referenceAllele": "GAAGACCT",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "NM_003073.3:c.969_976del",
        "LRG_520t1:c.969_976del"
      ],
      "proteinEffect": {
        "hgvs": "NP_003064.2:p.Lys324ArgfsTer?",
        "hgvsWellDefined": "NP_003064.2:p.[Lys324_Ser329delinsArgLeuGlnArg;Asn331del;Leu333_Thr343delinsSerAlaHisSerGlyAspCysHisProGluHis;Asp345_Cys350delinsArgCysGlyProValVal;Leu352_Thr355delinsThrAlaGlyAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028349"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1226,
          "referenceAllele": "GAAGACCT",
          "start": 1218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "XM_011530345.1:c.1023_1030del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528647.1:p.Lys342ArgfsTer?",
        "hgvsWellDefined": "XP_011528647.1:p.[Lys342_Ser347delinsArgLeuGlnArg;Asn349del;Leu351_Thr361delinsSerAlaHisSerGlyAspCysHisProGluHis;Asp363_Cys368delinsArgCysGlyProValVal;Leu370_Thr373delinsThrAlaGlyAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097403"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1193,
          "referenceAllele": "GAAGACCT",
          "start": 1185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "XM_011530346.1:c.996_1003del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528648.1:p.Lys333ArgfsTer?",
        "hgvsWellDefined": "XP_011528648.1:p.[Lys333_Ser338delinsArgLeuGlnArg;Asn340del;Leu342_Thr352delinsSerAlaHisSerGlyAspCysHisProGluHis;Asp354_Cys359delinsArgCysGlyProValVal;Leu361_Thr364delinsThrAlaGlyAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097404"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1188,
          "referenceAllele": "GAAGACCT",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "NM_001007468.2:c.942_949del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001007469.1:p.Lys315ArgfsTer?",
        "hgvsWellDefined": "NP_001007469.1:p.[Lys315_Ser320delinsArgLeuGlnArg;Asn322del;Leu324_Thr334delinsSerAlaHisSerGlyAspCysHisProGluHis;Asp336_Cys341delinsArgCysGlyProValVal;Leu343_Thr346delinsThrAlaGlyAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510957"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1242,
          "referenceAllele": "GAAGACCT",
          "start": 1234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "NM_001317946.1:c.996_1003del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304875.1:p.Lys333ArgfsTer?",
        "hgvsWellDefined": "NP_001304875.1:p.[Lys333_Ser338delinsArgLeuGlnArg;Asn340del;Leu342_Thr352delinsSerAlaHisSerGlyAspCysHisProGluHis;Asp354_Cys359delinsArgCysGlyProValVal;Leu361_Thr364delinsThrAlaGlyAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512614"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1269,
          "referenceAllele": "GAAGACCT",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "NM_001362877.1:c.1023_1030del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349806.1:p.Lys342ArgfsTer?",
        "hgvsWellDefined": "NP_001349806.1:p.[Lys342_Ser347delinsArgLeuGlnArg;Asn349del;Leu351_Thr361delinsSerAlaHisSerGlyAspCysHisProGluHis;Asp363_Cys368delinsArgCysGlyProValVal;Leu370_Thr373delinsThrAlaGlyAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523093"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1215,
          "referenceAllele": "GAAGACCT",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "NM_003073.4:c.969_976del"
      ],
      "proteinEffect": {
        "hgvs": "NP_003064.2:p.Lys324ArgfsTer?",
        "hgvsWellDefined": "NP_003064.2:p.[Lys324_Ser329delinsArgLeuGlnArg;Asn331del;Leu333_Thr343delinsSerAlaHisSerGlyAspCysHisProGluHis;Asp345_Cys350delinsArgCysGlyProValVal;Leu352_Thr355delinsThrAlaGlyAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525056"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1153,
          "referenceAllele": "GAAGACCT",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "NM_001007468.3:c.942_949del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001007469.1:p.Lys315ArgfsTer?",
        "hgvsWellDefined": "NP_001007469.1:p.[Lys315_Ser320delinsArgLeuGlnArg;Asn322del;Leu324_Thr334delinsSerAlaHisSerGlyAspCysHisProGluHis;Asp336_Cys341delinsArgCysGlyProValVal;Leu343_Thr346delinsThrAlaGlyAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675289"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1207,
          "referenceAllele": "GAAGACCT",
          "start": 1199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "NM_001317946.2:c.996_1003del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304875.1:p.Lys333ArgfsTer?",
        "hgvsWellDefined": "NP_001304875.1:p.[Lys333_Ser338delinsArgLeuGlnArg;Asn340del;Leu342_Thr352delinsSerAlaHisSerGlyAspCysHisProGluHis;Asp354_Cys359delinsArgCysGlyProValVal;Leu361_Thr364delinsThrAlaGlyAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684364"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1234,
          "referenceAllele": "GAAGACCT",
          "start": 1226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "NM_001362877.2:c.1023_1030del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349806.1:p.Lys342ArgfsTer?",
        "hgvsWellDefined": "NP_001349806.1:p.[Lys342_Ser347delinsArgLeuGlnArg;Asn349del;Leu351_Thr361delinsSerAlaHisSerGlyAspCysHisProGluHis;Asp363_Cys368delinsArgCysGlyProValVal;Leu370_Thr373delinsThrAlaGlyAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690561"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1180,
          "referenceAllele": "GAAGACCT",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "NM_003073.5:c.969_976del"
      ],
      "proteinEffect": {
        "hgvs": "NP_003064.2:p.Lys324ArgfsTer?",
        "hgvsWellDefined": "NP_003064.2:p.[Lys324_Ser329delinsArgLeuGlnArg;Asn331del;Leu333_Thr343delinsSerAlaHisSerGlyAspCysHisProGluHis;Asp345_Cys350delinsArgCysGlyProValVal;Leu352_Thr355delinsThrAlaGlyAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695722",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644036.2:c.969_976del"
          },
          "RefSeq": {
            "hgvs": "NM_003073.5:c.969_976del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494049.2:p.Lys324ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_003064.2:p.Lys324ArgfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}