{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA278650",
  "communityStandardTitle": [
    "NM_000260.4(MYO7A):c.3532del (p.Gln1178SerfsTer2)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=52379[alleleid]",
        "alleleId": 52379,
        "preferredName": "NM_000260.4(MYO7A):c.3532del (p.Gln1178fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/43209",
        "RCV": [
          "RCV000036113",
          "RCV001852743"
        ],
        "variationId": 43209
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.76900417del?assembly=hg19",
        "id": "chr11:g.76900417del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.77189372del?assembly=hg38",
        "id": "chr11:g.77189372del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/111033239",
        "rs": 111033239
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-77189371-GC-G?dataset=gnomad_r4",
        "id": "11-77189371-GC-G",
        "variant": "11:77189371 GC / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 77189372,
          "referenceAllele": "C",
          "start": 77189371
        }
      ],
      "hgvs": [
        "NC_000011.10:g.77189372del",
        "CM000673.2:g.77189372del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 76900417,
          "referenceAllele": "C",
          "start": 76900416
        }
      ],
      "hgvs": [
        "NC_000011.9:g.76900417del",
        "CM000673.1:g.76900417del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 76578065,
          "referenceAllele": "C",
          "start": 76578064
        }
      ],
      "hgvs": [
        "NC_000011.8:g.76578065del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 66108,
          "referenceAllele": "C",
          "start": 66107
        }
      ],
      "hgvs": [
        "NG_009086.1:g.66108del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001419"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 66127,
          "referenceAllele": "C",
          "start": 66126
        }
      ],
      "hgvs": [
        "NG_009086.2:g.66127del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706092"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3822,
          "referenceAllele": "C",
          "start": 3821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000409709.9:c.3532del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386331.3:p.Gln1178SerfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754325",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409709.9:c.3532del"
          },
          "RefSeq": {
            "hgvs": "NM_000260.4:c.3532del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386331.3:p.Gln1178SerfsTer2"
          },
          "RefSeq": {
            "hgvs": "NP_000251.3:p.Gln1178SerfsTer2"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1373,
          "referenceAllele": "C",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000670577.1:c.1373del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773106"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3846,
          "referenceAllele": "C",
          "start": 3845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000409619.6:c.3499del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386635.2:p.Gln1167SerfsTer2",
        "hgvsWellDefined": "ENSP00000386635.2:p.[Gln1167_Pro1172del;Lys1174_Lys1196del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281706"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3804,
          "referenceAllele": "C",
          "start": 3803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000409709.7:c.3532del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386331.3:p.Gln1178SerfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281784"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1075,
          "referenceAllele": "C",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000458169.2:c.1075del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417017.2:p.Gln359SerfsTer2",
        "hgvsWellDefined": "ENSP00000417017.2:p.[Gln359_Pro364del;Lys366_Lys388del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304279"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3798,
          "referenceAllele": "C",
          "start": 3797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000458637.6:c.3532del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392185.2:p.Gln1178SerfsTer2",
        "hgvsWellDefined": "ENSP00000392185.2:p.[Gln1178_Pro1183del;Lys1185_Lys1207del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304499"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 59,
          "referenceAllele": "C",
          "start": 58
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000467137.1:n.59del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310331"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1075,
          "referenceAllele": "C",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000481328.7:n.1075del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321269"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3804,
          "referenceAllele": "C",
          "start": 3803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_000260.3:c.3532del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000251.3:p.Gln1178SerfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006322"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3798,
          "referenceAllele": "C",
          "start": 3797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_001127180.1:c.3532del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120652.1:p.Gln1178SerfsTer2",
        "hgvsWellDefined": "NP_001120652.1:p.[Gln1178_Pro1183del;Lys1185_Lys1207del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011524"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3850,
          "referenceAllele": "C",
          "start": 3849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_005274012.2:c.3532del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274069.1:p.Gln1178SerfsTer2",
        "hgvsWellDefined": "XP_005274069.1:p.[Gln1178_Pro1183del;Lys1185_Lys1207del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067798"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3852,
          "referenceAllele": "C",
          "start": 3851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_006718558.2:c.3532del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718621.1:p.Gln1178SerfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072695"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3852,
          "referenceAllele": "C",
          "start": 3851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_006718559.2:c.3532del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718622.1:p.Gln1178SerfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072696"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3852,
          "referenceAllele": "C",
          "start": 3851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_006718560.2:c.3532del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718623.1:p.Gln1178SerfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072697"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3850,
          "referenceAllele": "C",
          "start": 3849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_006718561.2:c.3532del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718624.1:p.Gln1178SerfsTer2",
        "hgvsWellDefined": "XP_006718624.1:p.[Gln1178_Pro1183del;Lys1185_Lys1207del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072698"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3852,
          "referenceAllele": "C",
          "start": 3851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545044.1:c.3532del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543346.1:p.Gln1178SerfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111951"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3852,
          "referenceAllele": "C",
          "start": 3851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545045.1:c.3532del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543347.1:p.Gln1178SerfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111952"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3534,
          "referenceAllele": "C",
          "start": 3533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545046.1:c.3499del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543348.1:p.Gln1167SerfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111953"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3762,
          "referenceAllele": "C",
          "start": 3761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545047.1:c.3442del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543349.1:p.Gln1148SerfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111954"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3633,
          "referenceAllele": "C",
          "start": 3632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545048.1:c.3313del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543350.1:p.Gln1105SerfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111955"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3621,
          "referenceAllele": "C",
          "start": 3620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545049.1:c.3301del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543351.1:p.Gln1101SerfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111956"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3402,
          "referenceAllele": "C",
          "start": 3401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545050.1:c.3274del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543352.1:p.Gln1092SerfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111957"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3852,
          "referenceAllele": "C",
          "start": 3851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545051.1:c.3532del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543353.1:p.Gln1178SerfsTer2",
        "hgvsWellDefined": "XP_011543353.1:p.[Gln1178_Pro1183del;Lys1185_Lys1207del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111958"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3853,
          "referenceAllele": "C",
          "start": 3852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545052.1:c.3532del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543354.1:p.Gln1178SerfsTer2",
        "hgvsWellDefined": "XP_011543354.1:p.[Gln1178_Pro1183del;Lys1185_Lys1207del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111959"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3852,
          "referenceAllele": "C",
          "start": 3851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_949938.1:n.3852del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143251"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3852,
          "referenceAllele": "C",
          "start": 3851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_949941.1:n.3852del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143252"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3854,
          "referenceAllele": "C",
          "start": 3853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_949942.1:n.3854del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143253"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3854,
          "referenceAllele": "C",
          "start": 3853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_949943.1:n.3854del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143254"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3876,
          "referenceAllele": "C",
          "start": 3875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545044.2:c.3532del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543346.1:p.Gln1178SerfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555897"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3637,
          "referenceAllele": "C",
          "start": 3636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545046.2:c.3622del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543348.2:p.Gln1208SerfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555898"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3491,
          "referenceAllele": "C",
          "start": 3490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545050.2:c.3274del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543352.1:p.Gln1092SerfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555899"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3637,
          "referenceAllele": "C",
          "start": 3636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017778.1:c.3622del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873267.1:p.Gln1208SerfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569886"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3637,
          "referenceAllele": "C",
          "start": 3636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017779.1:c.3622del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873268.1:p.Gln1208SerfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569887"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3637,
          "referenceAllele": "C",
          "start": 3636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017780.1:c.3622del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873269.1:p.Gln1208SerfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569888"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3547,
          "referenceAllele": "C",
          "start": 3546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017781.1:c.3532del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873270.1:p.Gln1178SerfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569889"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3637,
          "referenceAllele": "C",
          "start": 3636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017782.1:c.3622del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873271.1:p.Gln1208SerfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569890"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3637,
          "referenceAllele": "C",
          "start": 3636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017783.1:c.3622del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873272.1:p.Gln1208SerfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569891"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3637,
          "referenceAllele": "C",
          "start": 3636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017784.1:c.3622del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873273.1:p.Gln1208SerfsTer2",
        "hgvsWellDefined": "XP_016873273.1:p.[Gln1208_Pro1213del;Lys1215_Lys1237del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569892"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3406,
          "referenceAllele": "C",
          "start": 3405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017785.1:c.3391del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873274.1:p.Gln1131SerfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569893"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3637,
          "referenceAllele": "C",
          "start": 3636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017786.1:c.3622del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873275.1:p.Gln1208SerfsTer2",
        "hgvsWellDefined": "XP_016873275.1:p.[Gln1208_Pro1213del;Lys1215_Lys1237del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569894"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3637,
          "referenceAllele": "C",
          "start": 3636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017787.1:c.3622del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873276.1:p.Gln1208SerfsTer2",
        "hgvsWellDefined": "XP_016873276.1:p.[Gln1208_Pro1213del;Lys1215_Lys1237del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569895"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3637,
          "referenceAllele": "C",
          "start": 3636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017788.1:c.3622del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873277.1:p.Gln1208SerfsTer2",
        "hgvsWellDefined": "XP_016873277.1:p.[Gln1208_Pro1213del;Lys1215_Lys1237del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569896"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3637,
          "referenceAllele": "C",
          "start": 3636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_001747885.1:n.3637del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595975"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3637,
          "referenceAllele": "C",
          "start": 3636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_001747886.1:n.3637del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595976"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3637,
          "referenceAllele": "C",
          "start": 3636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_001747887.1:n.3637del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595977"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3637,
          "referenceAllele": "C",
          "start": 3636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_001747888.1:n.3637del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595978"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3637,
          "referenceAllele": "C",
          "start": 3636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_001747889.1:n.3637del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595979"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3822,
          "referenceAllele": "C",
          "start": 3821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_000260.4:c.3532del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000251.3:p.Gln1178SerfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662373",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409709.9:c.3532del"
          },
          "RefSeq": {
            "hgvs": "NM_000260.4:c.3532del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386331.3:p.Gln1178SerfsTer2"
          },
          "RefSeq": {
            "hgvs": "NP_000251.3:p.Gln1178SerfsTer2"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3822,
          "referenceAllele": "C",
          "start": 3821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_001127180.2:c.3532del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120652.1:p.Gln1178SerfsTer2",
        "hgvsWellDefined": "NP_001120652.1:p.[Gln1178_Pro1183del;Lys1185_Lys1207del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676839"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3902,
          "referenceAllele": "C",
          "start": 3901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_001369365.1:c.3499del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356294.1:p.Gln1167SerfsTer2",
        "hgvsWellDefined": "NP_001356294.1:p.[Gln1167_Pro1172del;Lys1174_Lys1196del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691590"
    }
  ],
  "type": "nucleotide"
}