{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA915942988",
  "communityStandardTitle": [
    "NM_130837.3(OPA1):c.2315_2316del (p.Phe772CysfsTer20)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=790379[alleleid]",
        "alleleId": 790379,
        "preferredName": "NM_130837.3(OPA1):c.2315_2316del (p.Phe772fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/802042",
        "RCV": [
          "RCV000987382"
        ],
        "variationId": 802042
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1577297114",
        "rs": 1577297114
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 193657217,
          "referenceAllele": "TT",
          "start": 193657215
        }
      ],
      "hgvs": [
        "NC_000003.12:g.193657216_193657217del",
        "CM000665.2:g.193657216_193657217del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 193375006,
          "referenceAllele": "TT",
          "start": 193375004
        }
      ],
      "hgvs": [
        "NC_000003.11:g.193375005_193375006del",
        "CM000665.1:g.193375005_193375006del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 194857700,
          "referenceAllele": "TT",
          "start": 194857698
        }
      ],
      "hgvs": [
        "NC_000003.10:g.194857699_194857700del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 69074,
          "referenceAllele": "TT",
          "start": 69072
        }
      ],
      "hgvs": [
        "NG_011605.1:g.69073_69074del",
        "LRG_337:g.69073_69074del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001848"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2486,
          "referenceAllele": "TT",
          "start": 2484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000361510.8:c.2315_2316del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355324.2:p.Phe772CysfsTer20",
        "hgvsWellDefined": "ENSP00000355324.2:p.[Phe772_Ile780delinsCysGlyGly;His782_Ala784del;Asp787_Arg788delinsGlyTyr;Ile790_Lys793delinsThr;Gln795_Ala799delinsCysPheGlyArgPro;Tyr801_Phe802delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749487",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361510.8:c.2315_2316del"
          },
          "RefSeq": {
            "hgvs": "NM_130837.3:c.2315_2316del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355324.2:p.Phe772CysfsTer20"
          },
          "RefSeq": {
            "hgvs": "NP_570850.2:p.Phe772CysfsTer20"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2385,
          "referenceAllele": "TT",
          "start": 2383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000361828.7:c.2150_2151del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354429.3:p.Phe717CysfsTer20",
        "hgvsWellDefined": "ENSP00000354429.3:p.[Phe717_Ile725delinsCysGlyGly;His727_Ala729del;Asp732_Arg733delinsGlyTyr;Ile735_Lys738delinsThr;Gln740_Ala744delinsCysPheGlyArgPro;Tyr746_Phe747delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749547"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2454,
          "referenceAllele": "TT",
          "start": 2452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000361908.8:c.2261_2262del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354681.3:p.Phe754CysfsTer20",
        "hgvsWellDefined": "ENSP00000354681.3:p.[Phe754_Ile762delinsCysGlyGly;His764_Ala766del;Asp769_Arg770delinsGlyTyr;Ile772_Lys775delinsThr;Gln777_Ala781delinsCysPheGlyArgPro;Tyr783_Phe784delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749561"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2309,
          "referenceAllele": "TT",
          "start": 2307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000392436.7:c.2150_2151del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376231.3:p.Phe717CysfsTer20",
        "hgvsWellDefined": "ENSP00000376231.3:p.[Phe717_Ile725delinsCysGlyGly;His727_Ala729del;Asp732_Arg733delinsGlyTyr;Ile735_Lys738delinsThr;Gln740_Ala744delinsCysPheGlyArgPro;Tyr746_Phe747delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753004"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2303,
          "referenceAllele": "TT",
          "start": 2301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000392437.6:c.2204_2205del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376232.2:p.Phe735CysfsTer20",
        "hgvsWellDefined": "ENSP00000376232.2:p.[Phe735_Ile743delinsCysGlyGly;His745_Ala747del;Asp750_Arg751delinsGlyTyr;Ile753_Lys756delinsThr;Gln758_Ala762delinsCysPheGlyArgPro;Tyr764_Phe765delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753005"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2090,
          "referenceAllele": "TT",
          "start": 2088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000642289.1:c.2089_2090del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766662"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2313,
          "referenceAllele": "TT",
          "start": 2311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000642445.1:c.2150_2151del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495535.1:p.Phe717CysfsTer20",
        "hgvsWellDefined": "ENSP00000495535.1:p.[Phe717_Ile725delinsCysGlyGly;His727_Ala729del;Asp732_Arg733delinsGlyTyr;Ile735_Lys738delinsThr;Gln740_Ala744delinsCysPheGlyArgPro;Tyr746_Phe747delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766749"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2172,
          "referenceAllele": "TT",
          "start": 2170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000642593.1:c.*375_*376del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494273.1:n.*375_*376del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766828"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2413,
          "referenceAllele": "TT",
          "start": 2411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000643329.1:c.1832_1833del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493673.1:p.Phe611CysfsTer20",
        "hgvsWellDefined": "ENSP00000493673.1:p.[Phe611_Ile619delinsCysGlyGly;His621_Ala623del;Asp626_Arg627delinsGlyTyr;Ile629_Lys632delinsThr;Gln634_Ala638delinsCysPheGlyArgPro;Tyr640_Phe641delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767218"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2513,
          "referenceAllele": "TT",
          "start": 2511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000643737.1:c.*2231_*2232del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494210.1:n.*2231_*2232del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767444"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2313,
          "referenceAllele": "TT",
          "start": 2311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000644595.1:c.2150_2151del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494121.1:p.Phe717CysfsTer20",
        "hgvsWellDefined": "ENSP00000494121.1:p.[Phe717_Ile725delinsCysGlyGly;His727_Ala729del;Asp732_Arg733delinsGlyTyr;Ile735_Lys738delinsThr;Gln740_Ala744delinsCysPheGlyArgPro;Tyr746_Phe747delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767893"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1738,
          "referenceAllele": "TT",
          "start": 1736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000644629.1:c.1737_1738del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767908"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2464,
          "referenceAllele": "TT",
          "start": 2462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000644841.1:c.*634_*635del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493988.1:n.*634_*635del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768028"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2145,
          "referenceAllele": "TT",
          "start": 2143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000644959.1:c.2144_2145del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768092"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2257,
          "referenceAllele": "TT",
          "start": 2255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000645553.1:c.2165_2166del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494725.1:p.Phe722CysfsTer20",
        "hgvsWellDefined": "ENSP00000494725.1:p.[Phe722_Ile730delinsCysGlyGly;His732_Ala734del;Asp737_Arg738delinsGlyTyr;Ile740_Lys743delinsThr;Gln745_Ala749delinsCysPheGlyArgPro;Tyr751_Phe752delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768424"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2415,
          "referenceAllele": "TT",
          "start": 2413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000646085.1:c.*1628_*1629del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494509.1:n.*1628_*1629del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768684"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2501,
          "referenceAllele": "TT",
          "start": 2499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000646277.1:c.*751_*752del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495289.1:n.*751_*752del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768790"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1139,
          "referenceAllele": "TT",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000646544.1:c.1138_1139del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768932"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2090,
          "referenceAllele": "TT",
          "start": 2088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000646699.1:c.2089_2090del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769018"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2174,
          "referenceAllele": "TT",
          "start": 2172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000646793.1:c.2042_2043del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494512.1:p.Phe681CysfsTer20",
        "hgvsWellDefined": "ENSP00000494512.1:p.[Phe681_Ile689delinsCysGlyGly;His691_Ala693del;Asp696_Arg697delinsGlyTyr;Ile699_Lys702delinsThr;Gln704_Ala708delinsCysPheGlyArgPro;Tyr710_Phe711delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769069"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2388,
          "referenceAllele": "TT",
          "start": 2386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000361150.6:c.2153_2154del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354781.2:p.Phe718CysfsTer20",
        "hgvsWellDefined": "ENSP00000354781.2:p.[Phe718_Ile726delinsCysGlyGly;His728_Ala730del;Asp733_Arg734delinsGlyTyr;Ile736_Lys739delinsThr;Gln741_Ala745delinsCysPheGlyArgPro;Tyr747_Phe748delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265365"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2550,
          "referenceAllele": "TT",
          "start": 2548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000361510.6:c.2315_2316del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355324.2:p.Phe772CysfsTer20",
        "hgvsWellDefined": "ENSP00000355324.2:p.[Phe772_Ile780delinsCysGlyGly;His782_Ala784del;Asp787_Arg788delinsGlyTyr;Ile790_Lys793delinsThr;Gln795_Ala799delinsCysPheGlyArgPro;Tyr801_Phe802delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265514"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2442,
          "referenceAllele": "TT",
          "start": 2440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000361715.6:c.2207_2208del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355311.2:p.Phe736CysfsTer20",
        "hgvsWellDefined": "ENSP00000355311.2:p.[Phe736_Ile744delinsCysGlyGly;His746_Ala748del;Asp751_Arg752delinsGlyTyr;Ile754_Lys757delinsThr;Gln759_Ala763delinsCysPheGlyArgPro;Tyr765_Phe766delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265615"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2439,
          "referenceAllele": "TT",
          "start": 2437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000361828.6:c.2204_2205del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354429.2:p.Phe735CysfsTer20",
        "hgvsWellDefined": "ENSP00000354429.2:p.[Phe735_Ile743delinsCysGlyGly;His745_Ala747del;Asp750_Arg751delinsGlyTyr;Ile753_Lys756delinsThr;Gln758_Ala762delinsCysPheGlyArgPro;Tyr764_Phe765delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265674"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2496,
          "referenceAllele": "TT",
          "start": 2494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000361908.7:c.2261_2262del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354681.3:p.Phe754CysfsTer20",
        "hgvsWellDefined": "ENSP00000354681.3:p.[Phe754_Ile762delinsCysGlyGly;His764_Ala766del;Asp769_Arg770delinsGlyTyr;Ile772_Lys775delinsThr;Gln777_Ala781delinsCysPheGlyArgPro;Tyr783_Phe784delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265705"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2385,
          "referenceAllele": "TT",
          "start": 2383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000392438.7:c.2150_2151del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376233.3:p.Phe717CysfsTer20",
        "hgvsWellDefined": "ENSP00000376233.3:p.[Phe717_Ile725delinsCysGlyGly;His727_Ala729del;Asp732_Arg733delinsGlyTyr;Ile735_Lys738delinsThr;Gln740_Ala744delinsCysPheGlyArgPro;Tyr746_Phe747delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275090"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 410,
          "referenceAllele": "TT",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "ENST00000482865.1:n.409_410del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322462"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2385,
          "referenceAllele": "TT",
          "start": 2383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_015560.2:c.2150_2151del",
        "LRG_337t1:c.2150_2151del"
      ],
      "proteinEffect": {
        "hgvs": "NP_056375.2:p.Phe717CysfsTer20",
        "hgvsWellDefined": "NP_056375.2:p.[Phe717_Ile725delinsCysGlyGly;His727_Ala729del;Asp732_Arg733delinsGlyTyr;Ile735_Lys738delinsThr;Gln740_Ala744delinsCysPheGlyArgPro;Tyr746_Phe747delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034111"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2277,
          "referenceAllele": "TT",
          "start": 2275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_130831.2:c.2042_2043del"
      ],
      "proteinEffect": {
        "hgvs": "NP_570844.1:p.Phe681CysfsTer20",
        "hgvsWellDefined": "NP_570844.1:p.[Phe681_Ile689delinsCysGlyGly;His691_Ala693del;Asp696_Arg697delinsGlyTyr;Ile699_Lys702delinsThr;Gln704_Ala708delinsCysPheGlyArgPro;Tyr710_Phe711delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040425"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2331,
          "referenceAllele": "TT",
          "start": 2329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_130832.2:c.2096_2097del"
      ],
      "proteinEffect": {
        "hgvs": "NP_570845.1:p.Phe699CysfsTer20",
        "hgvsWellDefined": "NP_570845.1:p.[Phe699_Ile707delinsCysGlyGly;His709_Ala711del;Asp714_Arg715delinsGlyTyr;Ile717_Lys720delinsThr;Gln722_Ala726delinsCysPheGlyArgPro;Tyr728_Phe729delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040426"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2388,
          "referenceAllele": "TT",
          "start": 2386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_130833.2:c.2153_2154del"
      ],
      "proteinEffect": {
        "hgvs": "NP_570846.1:p.Phe718CysfsTer20",
        "hgvsWellDefined": "NP_570846.1:p.[Phe718_Ile726delinsCysGlyGly;His728_Ala730del;Asp733_Arg734delinsGlyTyr;Ile736_Lys739delinsThr;Gln741_Ala745delinsCysPheGlyArgPro;Tyr747_Phe748delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040427"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2439,
          "referenceAllele": "TT",
          "start": 2437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_130834.2:c.2204_2205del"
      ],
      "proteinEffect": {
        "hgvs": "NP_570847.2:p.Phe735CysfsTer20",
        "hgvsWellDefined": "NP_570847.2:p.[Phe735_Ile743delinsCysGlyGly;His745_Ala747del;Asp750_Arg751delinsGlyTyr;Ile753_Lys756delinsThr;Gln758_Ala762delinsCysPheGlyArgPro;Tyr764_Phe765delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040428"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2442,
          "referenceAllele": "TT",
          "start": 2440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_130835.2:c.2207_2208del"
      ],
      "proteinEffect": {
        "hgvs": "NP_570848.1:p.Phe736CysfsTer20",
        "hgvsWellDefined": "NP_570848.1:p.[Phe736_Ile744delinsCysGlyGly;His746_Ala748del;Asp751_Arg752delinsGlyTyr;Ile754_Lys757delinsThr;Gln759_Ala763delinsCysPheGlyArgPro;Tyr765_Phe766delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040429"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2496,
          "referenceAllele": "TT",
          "start": 2494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_130836.2:c.2261_2262del"
      ],
      "proteinEffect": {
        "hgvs": "NP_570849.2:p.Phe754CysfsTer20",
        "hgvsWellDefined": "NP_570849.2:p.[Phe754_Ile762delinsCysGlyGly;His764_Ala766del;Asp769_Arg770delinsGlyTyr;Ile772_Lys775delinsThr;Gln777_Ala781delinsCysPheGlyArgPro;Tyr783_Phe784delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040430"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2550,
          "referenceAllele": "TT",
          "start": 2548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_130837.2:c.2315_2316del",
        "LRG_337t2:c.2315_2316del"
      ],
      "proteinEffect": {
        "hgvs": "NP_570850.2:p.Phe772CysfsTer20",
        "hgvsWellDefined": "NP_570850.2:p.[Phe772_Ile780delinsCysGlyGly;His782_Ala784del;Asp787_Arg788delinsGlyTyr;Ile790_Lys793delinsThr;Gln795_Ala799delinsCysPheGlyArgPro;Tyr801_Phe802delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040431"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2464,
          "referenceAllele": "TT",
          "start": 2462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "XM_011512863.1:c.2315_2316del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511165.1:p.Phe772CysfsTer20",
        "hgvsWellDefined": "XP_011511165.1:p.[Phe772_Ile780delinsCysGlyGly;His782_Ala784del;Asp787_Arg788delinsGlyTyr;Ile790_Lys793delinsThr;Gln795_Ala799delinsCysPheGlyArgPro;Tyr801_Phe802delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080118"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2410,
          "referenceAllele": "TT",
          "start": 2408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "XM_011512864.1:c.2261_2262del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511166.1:p.Phe754CysfsTer20",
        "hgvsWellDefined": "XP_011511166.1:p.[Phe754_Ile762delinsCysGlyGly;His764_Ala766del;Asp769_Arg770delinsGlyTyr;Ile772_Lys775delinsThr;Gln777_Ala781delinsCysPheGlyArgPro;Tyr783_Phe784delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080119"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2353,
          "referenceAllele": "TT",
          "start": 2351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "XM_011512865.1:c.2204_2205del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511167.1:p.Phe735CysfsTer20",
        "hgvsWellDefined": "XP_011511167.1:p.[Phe735_Ile743delinsCysGlyGly;His745_Ala747del;Asp750_Arg751delinsGlyTyr;Ile753_Lys756delinsThr;Gln758_Ala762delinsCysPheGlyArgPro;Tyr764_Phe765delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080120"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2288,
          "referenceAllele": "TT",
          "start": 2286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "XM_011512866.1:c.2153_2154del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511168.1:p.Phe718CysfsTer20",
        "hgvsWellDefined": "XP_011511168.1:p.[Phe718_Ile726delinsCysGlyGly;His728_Ala730del;Asp733_Arg734delinsGlyTyr;Ile736_Lys739delinsThr;Gln741_Ala745delinsCysPheGlyArgPro;Tyr747_Phe748delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080121"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2299,
          "referenceAllele": "TT",
          "start": 2297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "XM_011512867.1:c.2150_2151del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511169.1:p.Phe717CysfsTer20",
        "hgvsWellDefined": "XP_011511169.1:p.[Phe717_Ile725delinsCysGlyGly;His727_Ala729del;Asp732_Arg733delinsGlyTyr;Ile735_Lys738delinsThr;Gln740_Ala744delinsCysPheGlyArgPro;Tyr746_Phe747delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080122"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2177,
          "referenceAllele": "TT",
          "start": 2175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "XM_011512868.1:c.2042_2043del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511170.1:p.Phe681CysfsTer20",
        "hgvsWellDefined": "XP_011511170.1:p.[Phe681_Ile689delinsCysGlyGly;His691_Ala693del;Asp696_Arg697delinsGlyTyr;Ile699_Lys702delinsThr;Gln704_Ala708delinsCysPheGlyArgPro;Tyr710_Phe711delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080123"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 582,
          "endIntronDirection": "-",
          "endIntronOffset": 9904,
          "referenceAllele": "AA",
          "start": 582,
          "startIntronDirection": "-",
          "startIntronOffset": 9906
        }
      ],
      "hgvs": [
        "XR_924835.1:n.583-9906_583-9905del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121895"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2446,
          "referenceAllele": "TT",
          "start": 2444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_001354663.1:c.1781_1782del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341592.1:p.Phe594CysfsTer20",
        "hgvsWellDefined": "NP_001341592.1:p.[Phe594_Ile602delinsCysGlyGly;His604_Ala606del;Asp609_Arg610delinsGlyTyr;Ile612_Lys615delinsThr;Gln617_Ala621delinsCysPheGlyArgPro;Tyr623_Phe624delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522593"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2443,
          "referenceAllele": "TT",
          "start": 2441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_001354664.1:c.1778_1779del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341593.1:p.Phe593CysfsTer20",
        "hgvsWellDefined": "NP_001341593.1:p.[Phe593_Ile601delinsCysGlyGly;His603_Ala605del;Asp608_Arg609delinsGlyTyr;Ile611_Lys614delinsThr;Gln616_Ala620delinsCysPheGlyArgPro;Tyr622_Phe623delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522594"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2570,
          "referenceAllele": "TT",
          "start": 2568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "XR_001740158.2:n.2569_2570del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590388"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2405,
          "referenceAllele": "TT",
          "start": 2403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "XR_001740159.2:n.2404_2405del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590389"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 475,
          "endIntronDirection": "-",
          "endIntronOffset": 9904,
          "referenceAllele": "AA",
          "start": 475,
          "startIntronDirection": "-",
          "startIntronOffset": 9906
        }
      ],
      "hgvs": [
        "XR_001741074.1:n.476-9906_476-9905del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591124"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 600,
          "endIntronDirection": "-",
          "endIntronOffset": 9904,
          "referenceAllele": "AA",
          "start": 600,
          "startIntronDirection": "-",
          "startIntronOffset": 9906
        }
      ],
      "hgvs": [
        "XR_924835.2:n.601-9906_601-9905del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607860"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2382,
          "referenceAllele": "TT",
          "start": 2380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_001354663.2:c.1781_1782del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341592.1:p.Phe594CysfsTer20",
        "hgvsWellDefined": "NP_001341592.1:p.[Phe594_Ile602delinsCysGlyGly;His604_Ala606del;Asp609_Arg610delinsGlyTyr;Ile612_Lys615delinsThr;Gln617_Ala621delinsCysPheGlyArgPro;Tyr623_Phe624delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690262"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2379,
          "referenceAllele": "TT",
          "start": 2377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_001354664.2:c.1778_1779del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341593.1:p.Phe593CysfsTer20",
        "hgvsWellDefined": "NP_001341593.1:p.[Phe593_Ile601delinsCysGlyGly;His603_Ala605del;Asp608_Arg609delinsGlyTyr;Ile611_Lys614delinsThr;Gln616_Ala620delinsCysPheGlyArgPro;Tyr622_Phe623delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690263"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2213,
          "referenceAllele": "TT",
          "start": 2211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_130831.3:c.2042_2043del"
      ],
      "proteinEffect": {
        "hgvs": "NP_570844.1:p.Phe681CysfsTer20",
        "hgvsWellDefined": "NP_570844.1:p.[Phe681_Ile689delinsCysGlyGly;His691_Ala693del;Asp696_Arg697delinsGlyTyr;Ile699_Lys702delinsThr;Gln704_Ala708delinsCysPheGlyArgPro;Tyr710_Phe711delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699611"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2267,
          "referenceAllele": "TT",
          "start": 2265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_130832.3:c.2096_2097del"
      ],
      "proteinEffect": {
        "hgvs": "NP_570845.1:p.Phe699CysfsTer20",
        "hgvsWellDefined": "NP_570845.1:p.[Phe699_Ile707delinsCysGlyGly;His709_Ala711del;Asp714_Arg715delinsGlyTyr;Ile717_Lys720delinsThr;Gln722_Ala726delinsCysPheGlyArgPro;Tyr728_Phe729delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699612"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2375,
          "referenceAllele": "TT",
          "start": 2373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_130834.3:c.2204_2205del"
      ],
      "proteinEffect": {
        "hgvs": "NP_570847.2:p.Phe735CysfsTer20",
        "hgvsWellDefined": "NP_570847.2:p.[Phe735_Ile743delinsCysGlyGly;His745_Ala747del;Asp750_Arg751delinsGlyTyr;Ile753_Lys756delinsThr;Gln758_Ala762delinsCysPheGlyArgPro;Tyr764_Phe765delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699613"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2432,
          "referenceAllele": "TT",
          "start": 2430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_130836.3:c.2261_2262del"
      ],
      "proteinEffect": {
        "hgvs": "NP_570849.2:p.Phe754CysfsTer20",
        "hgvsWellDefined": "NP_570849.2:p.[Phe754_Ile762delinsCysGlyGly;His764_Ala766del;Asp769_Arg770delinsGlyTyr;Ile772_Lys775delinsThr;Gln777_Ala781delinsCysPheGlyArgPro;Tyr783_Phe784delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699614"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2321,
          "referenceAllele": "TT",
          "start": 2319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_015560.3:c.2150_2151del"
      ],
      "proteinEffect": {
        "hgvs": "NP_056375.2:p.Phe717CysfsTer20",
        "hgvsWellDefined": "NP_056375.2:p.[Phe717_Ile725delinsCysGlyGly;His727_Ala729del;Asp732_Arg733delinsGlyTyr;Ile735_Lys738delinsThr;Gln740_Ala744delinsCysPheGlyArgPro;Tyr746_Phe747delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728091"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2324,
          "referenceAllele": "TT",
          "start": 2322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_130833.3:c.2153_2154del"
      ],
      "proteinEffect": {
        "hgvs": "NP_570846.1:p.Phe718CysfsTer20",
        "hgvsWellDefined": "NP_570846.1:p.[Phe718_Ile726delinsCysGlyGly;His728_Ala730del;Asp733_Arg734delinsGlyTyr;Ile736_Lys739delinsThr;Gln741_Ala745delinsCysPheGlyArgPro;Tyr747_Phe748delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729086"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2378,
          "referenceAllele": "TT",
          "start": 2376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_130835.3:c.2207_2208del"
      ],
      "proteinEffect": {
        "hgvs": "NP_570848.1:p.Phe736CysfsTer20",
        "hgvsWellDefined": "NP_570848.1:p.[Phe736_Ile744delinsCysGlyGly;His746_Ala748del;Asp751_Arg752delinsGlyTyr;Ile754_Lys757delinsThr;Gln759_Ala763delinsCysPheGlyArgPro;Tyr765_Phe766delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729087"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2486,
          "referenceAllele": "TT",
          "start": 2484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NM_130837.3:c.2315_2316del"
      ],
      "proteinEffect": {
        "hgvs": "NP_570850.2:p.Phe772CysfsTer20",
        "hgvsWellDefined": "NP_570850.2:p.[Phe772_Ile780delinsCysGlyGly;His782_Ala784del;Asp787_Arg788delinsGlyTyr;Ile790_Lys793delinsThr;Gln795_Ala799delinsCysPheGlyArgPro;Tyr801_Phe802delinsHisIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729088",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361510.8:c.2315_2316del"
          },
          "RefSeq": {
            "hgvs": "NM_130837.3:c.2315_2316del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355324.2:p.Phe772CysfsTer20"
          },
          "RefSeq": {
            "hgvs": "NP_570850.2:p.Phe772CysfsTer20"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}