{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA645509491",
  "communityStandardTitle": [
    "NM_000260.4(MYO7A):c.3064_3067del (p.Leu1022AsnfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=408480[alleleid]",
        "alleleId": 408480,
        "preferredName": "NM_000260.4(MYO7A):c.3064_3067del (p.Leu1022fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/422967",
        "RCV": [
          "RCV000484218"
        ],
        "variationId": 422967
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.77182110_77182113del?assembly=hg38",
        "id": "chr11:g.77182110_77182113del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064796130",
        "rs": 1064796130
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 77182113,
          "referenceAllele": "CTCA",
          "start": 77182109
        }
      ],
      "hgvs": [
        "NC_000011.10:g.77182110_77182113del",
        "CM000673.2:g.77182110_77182113del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 76570807,
          "referenceAllele": "CTCA",
          "start": 76570803
        }
      ],
      "hgvs": [
        "NC_000011.8:g.76570804_76570807del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 58850,
          "referenceAllele": "CTCA",
          "start": 58846
        }
      ],
      "hgvs": [
        "NG_009086.1:g.58847_58850del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001419"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 58868,
          "referenceAllele": "CTCA",
          "start": 58864
        }
      ],
      "hgvs": [
        "NG_009086.2:g.58865_58868del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706092"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3357,
          "referenceAllele": "CTCA",
          "start": 3353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000409709.9:c.3064_3067del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386331.3:p.Leu1022AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754325",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409709.9:c.3064_3067del"
          },
          "RefSeq": {
            "hgvs": "NM_000260.4:c.3064_3067del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386331.3:p.Leu1022AsnfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000251.3:p.Leu1022AsnfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1132,
          "referenceAllele": "CTCA",
          "start": 1128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000409893.6:c.1129_1132del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386689.2:p.Leu377AsnfsTer?",
        "hgvsWellDefined": "ENSP00000386689.2:p.[Leu377_Met404delinsAsnSerHisCysSerThrMetThrThrArgValThrSerTrpGlnProTrpArgSerGlySerProSerSerAlaSerTrp;Asp406_Leu407delinsThrSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754348"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 908,
          "referenceAllele": "CTCA",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000670577.1:c.905_908del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773106"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3381,
          "referenceAllele": "CTCA",
          "start": 3377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000409619.6:c.3031_3034del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386635.2:p.Leu1011AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281706"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3339,
          "referenceAllele": "CTCA",
          "start": 3335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000409709.7:c.3064_3067del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386331.3:p.Leu1022AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281784"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3333,
          "referenceAllele": "CTCA",
          "start": 3329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000409893.5:c.3064_3067del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386689.1:p.Leu1022AsnfsTer?",
        "hgvsWellDefined": "ENSP00000386689.1:p.[Leu1022_Met1049delinsAsnSerHisCysSerThrMetThrThrArgValThrSerTrpGlnProTrpArgSerGlySerProSerSerAlaSerTrp;Asp1051_Leu1052delinsThrSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281942"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 610,
          "referenceAllele": "CTCA",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000458169.2:c.607_610del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417017.2:p.Leu203AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304279"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3333,
          "referenceAllele": "CTCA",
          "start": 3329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000458637.6:c.3064_3067del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392185.2:p.Leu1022AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304499"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 610,
          "referenceAllele": "CTCA",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000481328.7:n.607_610del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321269"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3333,
          "referenceAllele": "CTCA",
          "start": 3329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000620575.4:c.3064_3067del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477640.1:p.Leu1022AsnfsTer?",
        "hgvsWellDefined": "ENSP00000477640.1:p.[Leu1022_Met1049delinsAsnSerHisCysSerThrMetThrThrArgValThrSerTrpGlnProTrpArgSerGlySerProSerSerAlaSerTrp;Asp1051_Leu1052delinsThrSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404890"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3339,
          "referenceAllele": "CTCA",
          "start": 3335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_000260.3:c.3064_3067del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000251.3:p.Leu1022AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006322"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3339,
          "referenceAllele": "CTCA",
          "start": 3335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_001127179.2:c.3064_3067del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120651.2:p.Leu1022AsnfsTer?",
        "hgvsWellDefined": "NP_001120651.2:p.[Leu1022_Met1049delinsAsnSerHisCysSerThrMetThrThrArgValThrSerTrpGlnProTrpArgSerGlySerProSerSerAlaSerTrp;Asp1051_Leu1052delinsThrSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011523"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3333,
          "referenceAllele": "CTCA",
          "start": 3329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_001127180.1:c.3064_3067del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120652.1:p.Leu1022AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011524"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3385,
          "referenceAllele": "CTCA",
          "start": 3381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_005274012.2:c.3064_3067del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274069.1:p.Leu1022AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067798"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3387,
          "referenceAllele": "CTCA",
          "start": 3383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_006718558.2:c.3064_3067del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718621.1:p.Leu1022AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072695"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3387,
          "referenceAllele": "CTCA",
          "start": 3383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_006718559.2:c.3064_3067del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718622.1:p.Leu1022AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072696"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3387,
          "referenceAllele": "CTCA",
          "start": 3383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_006718560.2:c.3064_3067del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718623.1:p.Leu1022AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072697"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3385,
          "referenceAllele": "CTCA",
          "start": 3381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_006718561.2:c.3064_3067del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718624.1:p.Leu1022AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072698"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3387,
          "referenceAllele": "CTCA",
          "start": 3383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545044.1:c.3064_3067del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543346.1:p.Leu1022AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111951"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3387,
          "referenceAllele": "CTCA",
          "start": 3383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545045.1:c.3064_3067del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543347.1:p.Leu1022AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111952"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3069,
          "referenceAllele": "CTCA",
          "start": 3065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545046.1:c.3031_3034del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543348.1:p.Leu1011AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111953"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3387,
          "referenceAllele": "CTCA",
          "start": 3383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545047.1:c.3064_3067del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543349.1:p.Leu1022AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111954"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3168,
          "referenceAllele": "CTCA",
          "start": 3164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545048.1:c.2845_2848del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543350.1:p.Leu949AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111955"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3156,
          "referenceAllele": "CTCA",
          "start": 3152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545049.1:c.2833_2836del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543351.1:p.Leu945AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111956"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2937,
          "referenceAllele": "CTCA",
          "start": 2933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545050.1:c.2806_2809del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543352.1:p.Leu936AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111957"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3387,
          "referenceAllele": "CTCA",
          "start": 3383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545051.1:c.3064_3067del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543353.1:p.Leu1022AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111958"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3388,
          "referenceAllele": "CTCA",
          "start": 3384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545052.1:c.3064_3067del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543354.1:p.Leu1022AsnfsTer?",
        "hgvsWellDefined": "XP_011543354.1:p.[Leu1022_Met1049delinsAsnSerHisCysSerThrMetThrThrArgValThrSerTrpGlnProTrpArgSerGlySerProSerSerAlaSerTrp;Asp1051_Leu1052delinsThrSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111959"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3387,
          "referenceAllele": "CTCA",
          "start": 3383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_949938.1:n.3384_3387del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143251"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3387,
          "referenceAllele": "CTCA",
          "start": 3383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_949941.1:n.3384_3387del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143252"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3389,
          "referenceAllele": "CTCA",
          "start": 3385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_949942.1:n.3386_3389del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143253"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3389,
          "referenceAllele": "CTCA",
          "start": 3385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_949943.1:n.3386_3389del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143254"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3411,
          "referenceAllele": "CTCA",
          "start": 3407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545044.2:c.3064_3067del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543346.1:p.Leu1022AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555897"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3172,
          "referenceAllele": "CTCA",
          "start": 3168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545046.2:c.3154_3157del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543348.2:p.Leu1052AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555898"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3026,
          "referenceAllele": "CTCA",
          "start": 3022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545050.2:c.2806_2809del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543352.1:p.Leu936AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555899"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3172,
          "referenceAllele": "CTCA",
          "start": 3168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017778.1:c.3154_3157del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873267.1:p.Leu1052AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569886"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3172,
          "referenceAllele": "CTCA",
          "start": 3168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017779.1:c.3154_3157del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873268.1:p.Leu1052AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569887"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3172,
          "referenceAllele": "CTCA",
          "start": 3168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017780.1:c.3154_3157del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873269.1:p.Leu1052AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569888"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3172,
          "referenceAllele": "CTCA",
          "start": 3168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017781.1:c.3154_3157del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873270.1:p.Leu1052AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569889"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3172,
          "referenceAllele": "CTCA",
          "start": 3168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017782.1:c.3154_3157del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873271.1:p.Leu1052AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569890"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3172,
          "referenceAllele": "CTCA",
          "start": 3168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017783.1:c.3154_3157del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873272.1:p.Leu1052AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569891"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3172,
          "referenceAllele": "CTCA",
          "start": 3168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017784.1:c.3154_3157del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873273.1:p.Leu1052AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569892"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2941,
          "referenceAllele": "CTCA",
          "start": 2937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017785.1:c.2923_2926del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873274.1:p.Leu975AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569893"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3172,
          "referenceAllele": "CTCA",
          "start": 3168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017786.1:c.3154_3157del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873275.1:p.Leu1052AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569894"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3172,
          "referenceAllele": "CTCA",
          "start": 3168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017787.1:c.3154_3157del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873276.1:p.Leu1052AsnfsTer?",
        "hgvsWellDefined": "XP_016873276.1:p.[Leu1052_Met1079delinsAsnSerHisCysSerThrMetThrThrArgValThrSerTrpGlnProTrpArgSerGlySerProSerSerAlaSerTrp;Asp1081_Leu1082delinsThrSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569895"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3172,
          "referenceAllele": "CTCA",
          "start": 3168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017788.1:c.3154_3157del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873277.1:p.Leu1052AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569896"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3172,
          "referenceAllele": "CTCA",
          "start": 3168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_001747885.1:n.3169_3172del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595975"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3172,
          "referenceAllele": "CTCA",
          "start": 3168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_001747886.1:n.3169_3172del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595976"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3172,
          "referenceAllele": "CTCA",
          "start": 3168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_001747887.1:n.3169_3172del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595977"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3172,
          "referenceAllele": "CTCA",
          "start": 3168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_001747888.1:n.3169_3172del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595978"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3172,
          "referenceAllele": "CTCA",
          "start": 3168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_001747889.1:n.3169_3172del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595979"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3357,
          "referenceAllele": "CTCA",
          "start": 3353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_000260.4:c.3064_3067del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000251.3:p.Leu1022AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662373",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409709.9:c.3064_3067del"
          },
          "RefSeq": {
            "hgvs": "NM_000260.4:c.3064_3067del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386331.3:p.Leu1022AsnfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000251.3:p.Leu1022AsnfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3357,
          "referenceAllele": "CTCA",
          "start": 3353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_001127180.2:c.3064_3067del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120652.1:p.Leu1022AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676839"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3437,
          "referenceAllele": "CTCA",
          "start": 3433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_001369365.1:c.3031_3034del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356294.1:p.Leu1011AsnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691590"
    }
  ],
  "type": "nucleotide"
}