{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA645601557",
  "communityStandardTitle": [
    "NM_003611.3(OFD1):c.2371_2372delinsTT (p.Pro791Leu)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4516839",
        "active": true,
        "id": "COSM4516839"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "TT",
          "end": 13761196,
          "referenceAllele": "CC",
          "start": 13761194
        }
      ],
      "hgvs": [
        "NC_000023.11:g.13761195_13761196delinsTT",
        "CM000685.2:g.13761195_13761196delinsTT"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "TT",
          "end": 13779315,
          "referenceAllele": "CC",
          "start": 13779313
        }
      ],
      "hgvs": [
        "NC_000023.10:g.13779314_13779315delinsTT",
        "CM000685.1:g.13779314_13779315delinsTT"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "TT",
          "end": 13689236,
          "referenceAllele": "CC",
          "start": 13689234
        }
      ],
      "hgvs": [
        "NC_000023.9:g.13689235_13689236delinsTT"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 31484,
          "referenceAllele": "CC",
          "start": 31482
        }
      ],
      "hgvs": [
        "NG_008872.1:g.31483_31484delinsTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001267"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2824,
          "referenceAllele": "CC",
          "start": 2822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000380567.6:c.*2064_*2065delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369941.2:n.*2064_*2065delinsTT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824388"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2439,
          "referenceAllele": "CC",
          "start": 2437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000398395.8:c.*1832_*1833delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381432.5:n.*1832_*1833delinsTT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824529"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 4201,
          "referenceAllele": "CC",
          "start": 4199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000464463.6:n.4200_4201delinsTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825148"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2901,
          "referenceAllele": "CC",
          "start": 2899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000490265.6:n.2900_2901delinsTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825408"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3347,
          "referenceAllele": "CC",
          "start": 3345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000682237.1:c.*1931_*1932delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507121.1:n.*1931_*1932delinsTT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827232"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 4432,
          "referenceAllele": "CC",
          "start": 4430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000682562.1:c.*3773_*3774delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507874.1:n.*3773_*3774delinsTT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827552"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3540,
          "referenceAllele": "CC",
          "start": 3538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000682953.1:c.*3098_*3099delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507878.1:n.*3098_*3099delinsTT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827941"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 4329,
          "referenceAllele": "CC",
          "start": 4327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683055.1:c.*3352_*3353delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508191.1:n.*3352_*3353delinsTT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828041"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3184,
          "referenceAllele": "CC",
          "start": 3182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683284.1:c.*2602_*2603delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507837.1:n.*2602_*2603delinsTT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828265"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2300,
          "referenceAllele": "CC",
          "start": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683427.1:c.*1028_*1029delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507290.1:n.*1028_*1029delinsTT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828404"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2386,
          "referenceAllele": "CC",
          "start": 2384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683454.1:n.2385_2386delinsTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828430"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3481,
          "referenceAllele": "CC",
          "start": 3479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683637.1:n.3480_3481delinsTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828609"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3515,
          "referenceAllele": "CC",
          "start": 3513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683655.1:c.*2585_*2586delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506770.1:n.*2585_*2586delinsTT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828626"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3262,
          "referenceAllele": "CC",
          "start": 3260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683713.1:c.*2602_*2603delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507797.1:n.*2602_*2603delinsTT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828684"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2828,
          "referenceAllele": "CC",
          "start": 2826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000684577.1:c.*2068_*2069delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507871.1:n.*2068_*2069delinsTT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829529"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2696,
          "referenceAllele": "CC",
          "start": 2694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000340096.11:c.2371_2372delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344314.6:p.Pro791Leu",
        "hgvsWellDefined": "ENSP00000344314.6:p.Pro791Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340096.11:c.2371_2372delinsTT"
          },
          "RefSeq": {
            "hgvs": "NM_003611.3:c.2371_2372delinsTT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344314.6:p.Pro791Leu"
          },
          "RefSeq": {
            "hgvs": "NP_003602.1:p.Pro791Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2699,
          "referenceAllele": "CC",
          "start": 2697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000340096.10:c.2371_2372delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344314.6:p.Pro791Leu",
        "hgvsWellDefined": "ENSP00000344314.6:p.Pro791Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261020"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2426,
          "referenceAllele": "CC",
          "start": 2424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000380550.6:c.2251_2252delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369923.3:p.Pro751Leu",
        "hgvsWellDefined": "ENSP00000369923.3:p.Pro751Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272973"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2824,
          "referenceAllele": "CC",
          "start": 2822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000380567.5:c.1951_1952delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369941.1:p.Pro651Leu",
        "hgvsWellDefined": "ENSP00000369941.1:p.Pro651Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272981"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2437,
          "referenceAllele": "CC",
          "start": 2435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000398395.7:c.*711_*712delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381432.4:n.*711_*712delinsTT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278249"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 193,
          "referenceAllele": "CC",
          "start": 191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000464463.5:n.192_193delinsTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308287"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3347,
          "referenceAllele": "CC",
          "start": 3345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000490265.5:n.3346_3347delinsTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328136"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580293481",
      "coordinates": [
        {
          "allele": "TT",
          "end": 2731,
          "referenceAllele": "CC",
          "start": 2729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_003611.2:c.2371_2372delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_003602.1:p.Pro791Leu",
        "hgvsWellDefined": "NP_003602.1:p.Pro791Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028841"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2730,
          "referenceAllele": "CC",
          "start": 2728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274599.2:c.2392_2393delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274656.1:p.Pro798Leu",
        "hgvsWellDefined": "XP_005274656.1:p.Pro798Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068013"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2730,
          "referenceAllele": "CC",
          "start": 2728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274602.2:c.2392_2393delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274659.1:p.Pro798Leu",
        "hgvsWellDefined": "XP_005274659.1:p.Pro798Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068014"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2610,
          "referenceAllele": "CC",
          "start": 2608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274603.2:c.2272_2273delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274660.1:p.Pro758Leu",
        "hgvsWellDefined": "XP_005274660.1:p.Pro758Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068015"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2611,
          "referenceAllele": "CC",
          "start": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274604.2:c.2251_2252delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274661.1:p.Pro751Leu",
        "hgvsWellDefined": "XP_005274661.1:p.Pro751Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068016"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2903,
          "referenceAllele": "CC",
          "start": 2901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274606.2:c.2227_2228delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274663.1:p.Pro743Leu",
        "hgvsWellDefined": "XP_005274663.1:p.Pro743Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068017"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2053,
          "referenceAllele": "CC",
          "start": 2051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274607.3:c.1951_1952delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274664.1:p.Pro651Leu",
        "hgvsWellDefined": "XP_005274664.1:p.Pro651Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068018"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2730,
          "referenceAllele": "CC",
          "start": 2728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545591.1:c.2392_2393delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543893.1:p.Pro798Leu",
        "hgvsWellDefined": "XP_011543893.1:p.Pro798Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112491"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2725,
          "referenceAllele": "CC",
          "start": 2723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545592.1:c.2179_2180delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543894.1:p.Pro727Leu",
        "hgvsWellDefined": "XP_011543894.1:p.Pro727Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112492"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2731,
          "referenceAllele": "CC",
          "start": 2729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545593.1:c.2392_2393delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543895.1:p.Pro798Leu",
        "hgvsWellDefined": "XP_011543895.1:p.Pro798Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112493"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2172,
          "referenceAllele": "CC",
          "start": 2170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545594.1:c.2050_2051delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543896.1:p.Pro684Leu",
        "hgvsWellDefined": "XP_011543896.1:p.Pro684Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112494"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2162,
          "referenceAllele": "CC",
          "start": 2160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545595.1:c.2050_2051delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543897.1:p.Pro684Leu",
        "hgvsWellDefined": "XP_011543897.1:p.Pro684Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112495"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2732,
          "referenceAllele": "CC",
          "start": 2730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545596.1:c.2392_2393delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543898.1:p.Pro798Leu",
        "hgvsWellDefined": "XP_011543898.1:p.Pro798Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112496"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2787,
          "referenceAllele": "CC",
          "start": 2785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545597.1:c.1951_1952delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543899.1:p.Pro651Leu",
        "hgvsWellDefined": "XP_011543899.1:p.Pro651Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112497"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 1230,
          "referenceAllele": "CC",
          "start": 1228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545598.1:c.1096_1097delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543900.1:p.Pro366Leu",
        "hgvsWellDefined": "XP_011543900.1:p.Pro366Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112498"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2732,
          "referenceAllele": "CC",
          "start": 2730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XR_247288.2:n.2731_2732delinsTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117321"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827332966",
      "coordinates": [
        {
          "allele": "TT",
          "end": 2611,
          "referenceAllele": "CC",
          "start": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330209.1:c.2251_2252delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317138.1:p.Pro751Leu",
        "hgvsWellDefined": "NP_001317138.1:p.Pro751Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516609"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827334066",
      "coordinates": [
        {
          "allele": "TT",
          "end": 2856,
          "referenceAllele": "CC",
          "start": 2854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330210.1:c.1951_1952delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317139.1:p.Pro651Leu",
        "hgvsWellDefined": "NP_001317139.1:p.Pro651Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516610"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2907,
          "referenceAllele": "CC",
          "start": 2905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274606.4:c.2227_2228delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274663.1:p.Pro743Leu",
        "hgvsWellDefined": "XP_005274663.1:p.Pro743Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537647"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2729,
          "referenceAllele": "CC",
          "start": 2727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545592.3:c.2179_2180delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543894.1:p.Pro727Leu",
        "hgvsWellDefined": "XP_011543894.1:p.Pro727Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556159"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2145,
          "referenceAllele": "CC",
          "start": 2143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545594.3:c.2050_2051delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543896.1:p.Pro684Leu",
        "hgvsWellDefined": "XP_011543896.1:p.Pro684Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556160"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2787,
          "referenceAllele": "CC",
          "start": 2785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545597.2:c.1951_1952delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543899.1:p.Pro651Leu",
        "hgvsWellDefined": "XP_011543899.1:p.Pro651Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556161"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2307,
          "referenceAllele": "CC",
          "start": 2305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_017029909.1:c.1951_1952delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885398.1:p.Pro651Leu",
        "hgvsWellDefined": "XP_016885398.1:p.Pro651Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579390"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 1552,
          "referenceAllele": "CC",
          "start": 1550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_017029911.1:c.1429_1430delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885400.1:p.Pro477Leu",
        "hgvsWellDefined": "XP_016885400.1:p.Pro477Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579391"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3369,
          "referenceAllele": "CC",
          "start": 3367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452468.1:c.1096_1097delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308236.1:p.Pro366Leu",
        "hgvsWellDefined": "XP_024308236.1:p.Pro366Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585961"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3569,
          "referenceAllele": "CC",
          "start": 3567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452469.1:c.1096_1097delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308237.1:p.Pro366Leu",
        "hgvsWellDefined": "XP_024308237.1:p.Pro366Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585962"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3202,
          "referenceAllele": "CC",
          "start": 3200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452470.1:c.1096_1097delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308238.1:p.Pro366Leu",
        "hgvsWellDefined": "XP_024308238.1:p.Pro366Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585963"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3326,
          "referenceAllele": "CC",
          "start": 3324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452471.1:c.1096_1097delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308239.1:p.Pro366Leu",
        "hgvsWellDefined": "XP_024308239.1:p.Pro366Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580293481",
      "coordinates": [
        {
          "allele": "TT",
          "end": 2696,
          "referenceAllele": "CC",
          "start": 2694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_003611.3:c.2371_2372delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_003602.1:p.Pro791Leu",
        "hgvsWellDefined": "NP_003602.1:p.Pro791Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666097",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340096.11:c.2371_2372delinsTT"
          },
          "RefSeq": {
            "hgvs": "NM_003611.3:c.2371_2372delinsTT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344314.6:p.Pro791Leu"
          },
          "RefSeq": {
            "hgvs": "NP_003602.1:p.Pro791Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827332966",
      "coordinates": [
        {
          "allele": "TT",
          "end": 2576,
          "referenceAllele": "CC",
          "start": 2574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330209.2:c.2251_2252delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317138.1:p.Pro751Leu",
        "hgvsWellDefined": "NP_001317138.1:p.Pro751Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827334066",
      "coordinates": [
        {
          "allele": "TT",
          "end": 2821,
          "referenceAllele": "CC",
          "start": 2819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330210.2:c.1951_1952delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317139.1:p.Pro651Leu",
        "hgvsWellDefined": "NP_001317139.1:p.Pro651Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718632"
    }
  ],
  "type": "nucleotide"
}