{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10586208",
  "communityStandardTitle": [
    "NM_198334.3(GANAB):c.1848_1849del (p.Asp618GlnfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=247541[alleleid]",
        "alleleId": 247541,
        "preferredName": "NM_198334.3(GANAB):c.1848_1849del (p.Asp618fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/253129",
        "RCV": [
          "RCV000239562"
        ],
        "variationId": 253129
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.62396753_62396754del?assembly=hg19",
        "id": "chr11:g.62396753_62396754del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.62629281_62629282del?assembly=hg38",
        "id": "chr11:g.62629281_62629282del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/879255641",
        "rs": 879255641
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 62629282,
          "referenceAllele": "CT",
          "start": 62629280
        }
      ],
      "hgvs": [
        "NC_000011.10:g.62629281_62629282del",
        "CM000673.2:g.62629281_62629282del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 62396754,
          "referenceAllele": "CT",
          "start": 62396752
        }
      ],
      "hgvs": [
        "NC_000011.9:g.62396753_62396754del",
        "CM000673.1:g.62396753_62396754del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 62153330,
          "referenceAllele": "CT",
          "start": 62153328
        }
      ],
      "hgvs": [
        "NC_000011.8:g.62153329_62153330del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 22446,
          "referenceAllele": "AG",
          "start": 22444
        }
      ],
      "hgvs": [
        "NG_053018.1:g.22445_22446del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617325"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1863,
          "referenceAllele": "AG",
          "start": 1861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004138",
      "geneNCBI_id": 23193,
      "geneSymbol": "GANAB",
      "hgvs": [
        "ENST00000356638.8:c.1848_1849del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349053.3:p.Asp618GlnfsTer?",
        "hgvsWellDefined": "ENSP00000349053.3:p.[Asp618_Ile628delinsGlnHisCysArgValGlyProPheGluAspLeuTyr;Ile630_Cys633delinsTyrValSerGln;Ser635_Leu636delinsGlyAla;Leu638_Gly640delinsGlyThrPhe;Ser642_Cys644delinsLeuTrp;Ala646del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748824",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356638.8:c.1848_1849del"
          },
          "RefSeq": {
            "hgvs": "NM_198334.3:c.1848_1849del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349053.3:p.Asp618GlnfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_938148.1:p.Asp618GlnfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1996,
          "referenceAllele": "AG",
          "start": 1994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004138",
      "geneNCBI_id": 23193,
      "geneSymbol": "GANAB",
      "hgvs": [
        "ENST00000648273.1:c.1557_1558del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497655.1:p.Asp521GlnfsTer?",
        "hgvsWellDefined": "ENSP00000497655.1:p.[Asp521_Ile531delinsGlnHisCysArgValGlyProPheGluAspLeuTyr;Ile533_Cys536delinsTyrValSerGln;Ser538_Leu539delinsGlyAla;Leu541_Gly543delinsGlyThrPhe;Ser545_Cys547delinsLeuTrp;Ala549del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769880"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1931,
          "referenceAllele": "AG",
          "start": 1929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004138",
      "geneNCBI_id": 23193,
      "geneSymbol": "GANAB",
      "hgvs": [
        "ENST00000346178.8:c.1914_1915del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340466.4:p.Asp640GlnfsTer?",
        "hgvsWellDefined": "ENSP00000340466.4:p.[Asp640_Ile650delinsGlnHisCysArgValGlyProPheGluAspLeuTyr;Ile652_Cys655delinsTyrValSerGln;Ser657_Leu658delinsGlyAla;Leu660_Gly662delinsGlyThrPhe;Ser664_Cys666delinsLeuTrp;Ala668del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262234"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1866,
          "referenceAllele": "AG",
          "start": 1864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004138",
      "geneNCBI_id": 23193,
      "geneSymbol": "GANAB",
      "hgvs": [
        "ENST00000356638.7:c.1848_1849del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349053.3:p.Asp618GlnfsTer?",
        "hgvsWellDefined": "ENSP00000349053.3:p.[Asp618_Ile628delinsGlnHisCysArgValGlyProPheGluAspLeuTyr;Ile630_Cys633delinsTyrValSerGln;Ser635_Leu636delinsGlyAla;Leu638_Gly640delinsGlyThrPhe;Ser642_Cys644delinsLeuTrp;Ala646del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263825"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1743,
          "referenceAllele": "AG",
          "start": 1741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004138",
      "geneNCBI_id": 23193,
      "geneSymbol": "GANAB",
      "hgvs": [
        "ENST00000532402.5:c.*1580_*1581del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432181.1:n.*1580_*1581del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357339"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1606,
          "referenceAllele": "AG",
          "start": 1604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004138",
      "geneNCBI_id": 23193,
      "geneSymbol": "GANAB",
      "hgvs": [
        "ENST00000534779.5:c.1572_1573del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435306.1:p.Asp526GlnfsTer?",
        "hgvsWellDefined": "ENSP00000435306.1:p.[Asp526_Ile536delinsGlnHisCysArgValGlyProPheGluAspLeuTyr;Ile538_Cys541delinsTyrValSerGln;Ser543_Leu544delinsGlyAla;Leu546_Gly548delinsGlyThrPhe;Ser550_Cys552delinsLeuTrp;Ala554del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359339"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1867,
          "referenceAllele": "AG",
          "start": 1865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004138",
      "geneNCBI_id": 23193,
      "geneSymbol": "GANAB",
      "hgvs": [
        "ENST00000540933.5:c.1557_1558del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442962.1:p.Asp521GlnfsTer?",
        "hgvsWellDefined": "ENSP00000442962.1:p.[Asp521_Ile531delinsGlnHisCysArgValGlyProPheGluAspLeuTyr;Ile533_Cys536delinsTyrValSerGln;Ser538_Leu539delinsGlyAla;Leu541_Gly543delinsGlyThrPhe;Ser545_Cys547delinsLeuTrp;Ala549del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362665"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1700,
          "referenceAllele": "AG",
          "start": 1698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004138",
      "geneNCBI_id": 23193,
      "geneSymbol": "GANAB",
      "hgvs": [
        "NM_001278192.1:c.1572_1573del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265121.1:p.Asp526GlnfsTer?",
        "hgvsWellDefined": "NP_001265121.1:p.[Asp526_Ile536delinsGlnHisCysArgValGlyProPheGluAspLeuTyr;Ile538_Cys541delinsTyrValSerGln;Ser543_Leu544delinsGlyAla;Leu546_Gly548delinsGlyThrPhe;Ser550_Cys552delinsLeuTrp;Ala554del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021106"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1634,
          "referenceAllele": "AG",
          "start": 1632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004138",
      "geneNCBI_id": 23193,
      "geneSymbol": "GANAB",
      "hgvs": [
        "NM_001278193.1:c.1506_1507del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265122.1:p.Asp504GlnfsTer?",
        "hgvsWellDefined": "NP_001265122.1:p.[Asp504_Ile514delinsGlnHisCysArgValGlyProPheGluAspLeuTyr;Ile516_Cys519delinsTyrValSerGln;Ser521_Leu522delinsGlyAla;Leu524_Gly526delinsGlyThrPhe;Ser528_Cys530delinsLeuTrp;Ala532del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021107"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1867,
          "referenceAllele": "AG",
          "start": 1865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004138",
      "geneNCBI_id": 23193,
      "geneSymbol": "GANAB",
      "hgvs": [
        "NM_001278194.1:c.1557_1558del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265123.1:p.Asp521GlnfsTer?",
        "hgvsWellDefined": "NP_001265123.1:p.[Asp521_Ile531delinsGlnHisCysArgValGlyProPheGluAspLeuTyr;Ile533_Cys536delinsTyrValSerGln;Ser538_Leu539delinsGlyAla;Leu541_Gly543delinsGlyThrPhe;Ser545_Cys547delinsLeuTrp;Ala549del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021108"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1976,
          "referenceAllele": "AG",
          "start": 1974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004138",
      "geneNCBI_id": 23193,
      "geneSymbol": "GANAB",
      "hgvs": [
        "NM_198334.2:c.1848_1849del"
      ],
      "proteinEffect": {
        "hgvs": "NP_938148.1:p.Asp618GlnfsTer?",
        "hgvsWellDefined": "NP_938148.1:p.[Asp618_Ile628delinsGlnHisCysArgValGlyProPheGluAspLeuTyr;Ile630_Cys633delinsTyrValSerGln;Ser635_Leu636delinsGlyAla;Leu638_Gly640delinsGlyThrPhe;Ser642_Cys644delinsLeuTrp;Ala646del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044525"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2042,
          "referenceAllele": "AG",
          "start": 2040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004138",
      "geneNCBI_id": 23193,
      "geneSymbol": "GANAB",
      "hgvs": [
        "NM_198335.3:c.1914_1915del"
      ],
      "proteinEffect": {
        "hgvs": "NP_938149.2:p.Asp640GlnfsTer?",
        "hgvsWellDefined": "NP_938149.2:p.[Asp640_Ile650delinsGlnHisCysArgValGlyProPheGluAspLeuTyr;Ile652_Cys655delinsTyrValSerGln;Ser657_Leu658delinsGlyAla;Leu660_Gly662delinsGlyThrPhe;Ser664_Cys666delinsLeuTrp;Ala668del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044526"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2100,
          "referenceAllele": "AG",
          "start": 2098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004138",
      "geneNCBI_id": 23193,
      "geneSymbol": "GANAB",
      "hgvs": [
        "NM_001329222.1:c.1557_1558del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316151.1:p.Asp521GlnfsTer?",
        "hgvsWellDefined": "NP_001316151.1:p.[Asp521_Ile531delinsGlnHisCysArgValGlyProPheGluAspLeuTyr;Ile533_Cys536delinsTyrValSerGln;Ser538_Leu539delinsGlyAla;Leu541_Gly543delinsGlyThrPhe;Ser545_Cys547delinsLeuTrp;Ala549del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516182"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1972,
          "referenceAllele": "AG",
          "start": 1970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004138",
      "geneNCBI_id": 23193,
      "geneSymbol": "GANAB",
      "hgvs": [
        "NM_001329223.1:c.1557_1558del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316152.1:p.Asp521GlnfsTer?",
        "hgvsWellDefined": "NP_001316152.1:p.[Asp521_Ile531delinsGlnHisCysArgValGlyProPheGluAspLeuTyr;Ile533_Cys536delinsTyrValSerGln;Ser538_Leu539delinsGlyAla;Leu541_Gly543delinsGlyThrPhe;Ser545_Cys547delinsLeuTrp;Ala549del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516183"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2153,
          "referenceAllele": "AG",
          "start": 2151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004138",
      "geneNCBI_id": 23193,
      "geneSymbol": "GANAB",
      "hgvs": [
        "NM_001329224.1:c.1125_1126del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316153.1:p.Asp377GlnfsTer?",
        "hgvsWellDefined": "NP_001316153.1:p.[Asp377_Ile387delinsGlnHisCysArgValGlyProPheGluAspLeuTyr;Ile389_Cys392delinsTyrValSerGln;Ser394_Leu395delinsGlyAla;Leu397_Gly399delinsGlyThrPhe;Ser401_Cys403delinsLeuTrp;Ala405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516184"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2029,
          "referenceAllele": "AG",
          "start": 2027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004138",
      "geneNCBI_id": 23193,
      "geneSymbol": "GANAB",
      "hgvs": [
        "NM_001329225.1:c.1125_1126del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316154.1:p.Asp377GlnfsTer?",
        "hgvsWellDefined": "NP_001316154.1:p.[Asp377_Ile387delinsGlnHisCysArgValGlyProPheGluAspLeuTyr;Ile389_Cys392delinsTyrValSerGln;Ser394_Leu395delinsGlyAla;Leu397_Gly399delinsGlyThrPhe;Ser401_Cys403delinsLeuTrp;Ala405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516185"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1710,
          "referenceAllele": "AG",
          "start": 1708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004138",
      "geneNCBI_id": 23193,
      "geneSymbol": "GANAB",
      "hgvs": [
        "XM_017017412.1:c.1557_1558del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872901.1:p.Asp521GlnfsTer?",
        "hgvsWellDefined": "XP_016872901.1:p.[Asp521_Ile531delinsGlnHisCysArgValGlyProPheGluAspLeuTyr;Ile533_Cys536delinsTyrValSerGln;Ser538_Leu539delinsGlyAla;Leu541_Gly543delinsGlyThrPhe;Ser545_Cys547delinsLeuTrp;Ala549del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569631"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1863,
          "referenceAllele": "AG",
          "start": 1861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004138",
      "geneNCBI_id": 23193,
      "geneSymbol": "GANAB",
      "hgvs": [
        "NM_198334.3:c.1848_1849del"
      ],
      "proteinEffect": {
        "hgvs": "NP_938148.1:p.Asp618GlnfsTer?",
        "hgvsWellDefined": "NP_938148.1:p.[Asp618_Ile628delinsGlnHisCysArgValGlyProPheGluAspLeuTyr;Ile630_Cys633delinsTyrValSerGln;Ser635_Leu636delinsGlyAla;Leu638_Gly640delinsGlyThrPhe;Ser642_Cys644delinsLeuTrp;Ala646del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673109",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356638.8:c.1848_1849del"
          },
          "RefSeq": {
            "hgvs": "NM_198334.3:c.1848_1849del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349053.3:p.Asp618GlnfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_938148.1:p.Asp618GlnfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1587,
          "referenceAllele": "AG",
          "start": 1585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004138",
      "geneNCBI_id": 23193,
      "geneSymbol": "GANAB",
      "hgvs": [
        "NM_001278192.2:c.1572_1573del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265121.1:p.Asp526GlnfsTer?",
        "hgvsWellDefined": "NP_001265121.1:p.[Asp526_Ile536delinsGlnHisCysArgValGlyProPheGluAspLeuTyr;Ile538_Cys541delinsTyrValSerGln;Ser543_Leu544delinsGlyAla;Leu546_Gly548delinsGlyThrPhe;Ser550_Cys552delinsLeuTrp;Ala554del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681413"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1521,
          "referenceAllele": "AG",
          "start": 1519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004138",
      "geneNCBI_id": 23193,
      "geneSymbol": "GANAB",
      "hgvs": [
        "NM_001278193.2:c.1506_1507del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265122.1:p.Asp504GlnfsTer?",
        "hgvsWellDefined": "NP_001265122.1:p.[Asp504_Ile514delinsGlnHisCysArgValGlyProPheGluAspLeuTyr;Ile516_Cys519delinsTyrValSerGln;Ser521_Leu522delinsGlyAla;Leu524_Gly526delinsGlyThrPhe;Ser528_Cys530delinsLeuTrp;Ala532del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681414"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1859,
          "referenceAllele": "AG",
          "start": 1857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004138",
      "geneNCBI_id": 23193,
      "geneSymbol": "GANAB",
      "hgvs": [
        "NM_001329223.2:c.1557_1558del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316152.1:p.Asp521GlnfsTer?",
        "hgvsWellDefined": "NP_001316152.1:p.[Asp521_Ile531delinsGlnHisCysArgValGlyProPheGluAspLeuTyr;Ile533_Cys536delinsTyrValSerGln;Ser538_Leu539delinsGlyAla;Leu541_Gly543delinsGlyThrPhe;Ser545_Cys547delinsLeuTrp;Ala549del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686536"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1916,
          "referenceAllele": "AG",
          "start": 1914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004138",
      "geneNCBI_id": 23193,
      "geneSymbol": "GANAB",
      "hgvs": [
        "NM_001329225.2:c.1125_1126del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316154.1:p.Asp377GlnfsTer?",
        "hgvsWellDefined": "NP_001316154.1:p.[Asp377_Ile387delinsGlnHisCysArgValGlyProPheGluAspLeuTyr;Ile389_Cys392delinsTyrValSerGln;Ser394_Leu395delinsGlyAla;Leu397_Gly399delinsGlyThrPhe;Ser401_Cys403delinsLeuTrp;Ala405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686537"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1929,
          "referenceAllele": "AG",
          "start": 1927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004138",
      "geneNCBI_id": 23193,
      "geneSymbol": "GANAB",
      "hgvs": [
        "NM_198335.4:c.1914_1915del"
      ],
      "proteinEffect": {
        "hgvs": "NP_938149.2:p.Asp640GlnfsTer?",
        "hgvsWellDefined": "NP_938149.2:p.[Asp640_Ile650delinsGlnHisCysArgValGlyProPheGluAspLeuTyr;Ile652_Cys655delinsTyrValSerGln;Ser657_Leu658delinsGlyAla;Leu660_Gly662delinsGlyThrPhe;Ser664_Cys666delinsLeuTrp;Ala668del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701305"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1754,
          "referenceAllele": "AG",
          "start": 1752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004138",
      "geneNCBI_id": 23193,
      "geneSymbol": "GANAB",
      "hgvs": [
        "NM_001278194.2:c.1557_1558del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265123.1:p.Asp521GlnfsTer?",
        "hgvsWellDefined": "NP_001265123.1:p.[Asp521_Ile531delinsGlnHisCysArgValGlyProPheGluAspLeuTyr;Ile533_Cys536delinsTyrValSerGln;Ser538_Leu539delinsGlyAla;Leu541_Gly543delinsGlyThrPhe;Ser545_Cys547delinsLeuTrp;Ala549del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715469"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2100,
          "referenceAllele": "AG",
          "start": 2098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004138",
      "geneNCBI_id": 23193,
      "geneSymbol": "GANAB",
      "hgvs": [
        "NM_001329222.2:c.1557_1558del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316151.1:p.Asp521GlnfsTer?",
        "hgvsWellDefined": "NP_001316151.1:p.[Asp521_Ile531delinsGlnHisCysArgValGlyProPheGluAspLeuTyr;Ile533_Cys536delinsTyrValSerGln;Ser538_Leu539delinsGlyAla;Leu541_Gly543delinsGlyThrPhe;Ser545_Cys547delinsLeuTrp;Ala549del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718513"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2153,
          "referenceAllele": "AG",
          "start": 2151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004138",
      "geneNCBI_id": 23193,
      "geneSymbol": "GANAB",
      "hgvs": [
        "NM_001329224.2:c.1125_1126del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316153.1:p.Asp377GlnfsTer?",
        "hgvsWellDefined": "NP_001316153.1:p.[Asp377_Ile387delinsGlnHisCysArgValGlyProPheGluAspLeuTyr;Ile389_Cys392delinsTyrValSerGln;Ser394_Leu395delinsGlyAla;Leu397_Gly399delinsGlyThrPhe;Ser401_Cys403delinsLeuTrp;Ala405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718514"
    }
  ],
  "type": "nucleotide"
}