{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA278653",
  "communityStandardTitle": [
    "NM_000260.4(MYO7A):c.3543_3544dup (p.Asn1182ThrfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=52381[alleleid]",
        "alleleId": 52381,
        "preferredName": "NM_000260.4(MYO7A):c.3543_3544dup (p.Asn1182fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/43211",
        "RCV": [
          "RCV000036115",
          "RCV001219969"
        ],
        "variationId": 43211
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.76900428_76900429dupCA?assembly=hg19",
        "id": "chr11:g.76900428_76900429dupCA"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.77189383_77189384dupCA?assembly=hg38",
        "id": "chr11:g.77189383_77189384dupCA"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/111033390",
        "rs": 111033390
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "CA",
          "end": 77189384,
          "referenceAllele": "",
          "start": 77189384
        }
      ],
      "hgvs": [
        "NC_000011.10:g.77189383_77189384dup",
        "CM000673.2:g.77189383_77189384dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "CA",
          "end": 76900429,
          "referenceAllele": "",
          "start": 76900429
        }
      ],
      "hgvs": [
        "NC_000011.9:g.76900428_76900429dup",
        "CM000673.1:g.76900428_76900429dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "CA",
          "end": 76578077,
          "referenceAllele": "",
          "start": 76578077
        }
      ],
      "hgvs": [
        "NC_000011.8:g.76578076_76578077dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 66120,
          "referenceAllele": "",
          "start": 66120
        }
      ],
      "hgvs": [
        "NG_009086.1:g.66119_66120dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001419"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 66139,
          "referenceAllele": "",
          "start": 66139
        }
      ],
      "hgvs": [
        "NG_009086.2:g.66138_66139dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706092"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3834,
          "referenceAllele": "",
          "start": 3834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000409709.9:c.3543_3544dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386331.3:p.Asn1182ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754325",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409709.9:c.3543_3544dup"
          },
          "RefSeq": {
            "hgvs": "NM_000260.4:c.3543_3544dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386331.3:p.Asn1182ThrfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000251.3:p.Asn1182ThrfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 1385,
          "referenceAllele": "",
          "start": 1385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000670577.1:c.1384_1385dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773106"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3858,
          "referenceAllele": "",
          "start": 3858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000409619.6:c.3510_3511dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386635.2:p.Asn1171ThrfsTer?",
        "hgvsWellDefined": "ENSP00000386635.2:p.[Asn1171_Arg1179delinsThrThrProProArgAlaAlaMetPro;Trp1181_Ser1185delinsAlaGlyPheSerCys;Cys1187_Ala1192delinsSerAlaTrpAlaValSer;Ser1194_Tyr1200delinsProProArgSerLeuSerSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281706"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3816,
          "referenceAllele": "",
          "start": 3816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000409709.7:c.3543_3544dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386331.3:p.Asn1182ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281784"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 1087,
          "referenceAllele": "",
          "start": 1087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000458169.2:c.1086_1087dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417017.2:p.Asn363ThrfsTer?",
        "hgvsWellDefined": "ENSP00000417017.2:p.[Asn363_Arg371delinsThrThrProProArgAlaAlaMetPro;Trp373_Ser377delinsAlaGlyPheSerCys;Cys379_Ala384delinsSerAlaTrpAlaValSer;Ser386_Tyr392delinsProProArgSerLeuSerSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304279"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3810,
          "referenceAllele": "",
          "start": 3810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000458637.6:c.3543_3544dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392185.2:p.Asn1182ThrfsTer?",
        "hgvsWellDefined": "ENSP00000392185.2:p.[Asn1182_Arg1190delinsThrThrProProArgAlaAlaMetPro;Trp1192_Ser1196delinsAlaGlyPheSerCys;Cys1198_Ala1203delinsSerAlaTrpAlaValSer;Ser1205_Tyr1211delinsProProArgSerLeuSerSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304499"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 71,
          "referenceAllele": "",
          "start": 71
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000467137.1:n.70_71dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310331"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 1087,
          "referenceAllele": "",
          "start": 1087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000481328.7:n.1086_1087dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321269"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3816,
          "referenceAllele": "",
          "start": 3816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_000260.3:c.3543_3544dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000251.3:p.Asn1182ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006322"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3810,
          "referenceAllele": "",
          "start": 3810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_001127180.1:c.3543_3544dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120652.1:p.Asn1182ThrfsTer?",
        "hgvsWellDefined": "NP_001120652.1:p.[Asn1182_Arg1190delinsThrThrProProArgAlaAlaMetPro;Trp1192_Ser1196delinsAlaGlyPheSerCys;Cys1198_Ala1203delinsSerAlaTrpAlaValSer;Ser1205_Tyr1211delinsProProArgSerLeuSerSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011524"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3862,
          "referenceAllele": "",
          "start": 3862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_005274012.2:c.3543_3544dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274069.1:p.Asn1182ThrfsTer?",
        "hgvsWellDefined": "XP_005274069.1:p.[Asn1182_Arg1190delinsThrThrProProArgAlaAlaMetPro;Trp1192_Ser1196delinsAlaGlyPheSerCys;Cys1198_Ala1203delinsSerAlaTrpAlaValSer;Ser1205_Tyr1211delinsProProArgSerLeuSerSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067798"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3864,
          "referenceAllele": "",
          "start": 3864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_006718558.2:c.3543_3544dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718621.1:p.Asn1182ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072695"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3864,
          "referenceAllele": "",
          "start": 3864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_006718559.2:c.3543_3544dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718622.1:p.Asn1182ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072696"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3864,
          "referenceAllele": "",
          "start": 3864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_006718560.2:c.3543_3544dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718623.1:p.Asn1182ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072697"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3862,
          "referenceAllele": "",
          "start": 3862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_006718561.2:c.3543_3544dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718624.1:p.Asn1182ThrfsTer?",
        "hgvsWellDefined": "XP_006718624.1:p.[Asn1182_Arg1190delinsThrThrProProArgAlaAlaMetPro;Trp1192_Ser1196delinsAlaGlyPheSerCys;Cys1198_Ala1203delinsSerAlaTrpAlaValSer;Ser1205_Tyr1211delinsProProArgSerLeuSerSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072698"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3864,
          "referenceAllele": "",
          "start": 3864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545044.1:c.3543_3544dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543346.1:p.Asn1182ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111951"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3864,
          "referenceAllele": "",
          "start": 3864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545045.1:c.3543_3544dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543347.1:p.Asn1182ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111952"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3546,
          "referenceAllele": "",
          "start": 3546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545046.1:c.3510_3511dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543348.1:p.Asn1171ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111953"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3774,
          "referenceAllele": "",
          "start": 3774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545047.1:c.3453_3454dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543349.1:p.Asn1152ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111954"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3645,
          "referenceAllele": "",
          "start": 3645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545048.1:c.3324_3325dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543350.1:p.Asn1109ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111955"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3633,
          "referenceAllele": "",
          "start": 3633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545049.1:c.3312_3313dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543351.1:p.Asn1105ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111956"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3414,
          "referenceAllele": "",
          "start": 3414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545050.1:c.3285_3286dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543352.1:p.Asn1096ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111957"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3864,
          "referenceAllele": "",
          "start": 3864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545051.1:c.3543_3544dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543353.1:p.Asn1182ThrfsTer?",
        "hgvsWellDefined": "XP_011543353.1:p.[Asn1182_Arg1190delinsThrThrProProArgAlaAlaMetPro;Trp1192_Ser1196delinsAlaGlyPheSerCys;Cys1198_Ala1203delinsSerAlaTrpAlaValSer;Ser1205_Tyr1211delinsProProArgSerLeuSerSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111958"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3865,
          "referenceAllele": "",
          "start": 3865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545052.1:c.3543_3544dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543354.1:p.Asn1182ThrfsTer?",
        "hgvsWellDefined": "XP_011543354.1:p.[Asn1182_Arg1190delinsThrThrProProArgAlaAlaMetPro;Trp1192_Ser1196delinsAlaGlyPheSerCys;Cys1198_Ala1203delinsSerAlaTrpAlaValSer;Ser1205_Tyr1211delinsProProArgSerLeuSerSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111959"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3864,
          "referenceAllele": "",
          "start": 3864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_949938.1:n.3863_3864dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143251"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3864,
          "referenceAllele": "",
          "start": 3864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_949941.1:n.3863_3864dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143252"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3866,
          "referenceAllele": "",
          "start": 3866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_949942.1:n.3865_3866dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143253"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3866,
          "referenceAllele": "",
          "start": 3866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_949943.1:n.3865_3866dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143254"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3888,
          "referenceAllele": "",
          "start": 3888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545044.2:c.3543_3544dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543346.1:p.Asn1182ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555897"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3649,
          "referenceAllele": "",
          "start": 3649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545046.2:c.3633_3634dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543348.2:p.Asn1212ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555898"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3503,
          "referenceAllele": "",
          "start": 3503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545050.2:c.3285_3286dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543352.1:p.Asn1096ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555899"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3649,
          "referenceAllele": "",
          "start": 3649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017778.1:c.3633_3634dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873267.1:p.Asn1212ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569886"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3649,
          "referenceAllele": "",
          "start": 3649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017779.1:c.3633_3634dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873268.1:p.Asn1212ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569887"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3649,
          "referenceAllele": "",
          "start": 3649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017780.1:c.3633_3634dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873269.1:p.Asn1212ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569888"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3559,
          "referenceAllele": "",
          "start": 3559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017781.1:c.3543_3544dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873270.1:p.Asn1182ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569889"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3649,
          "referenceAllele": "",
          "start": 3649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017782.1:c.3633_3634dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873271.1:p.Asn1212ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569890"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3649,
          "referenceAllele": "",
          "start": 3649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017783.1:c.3633_3634dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873272.1:p.Asn1212ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569891"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3649,
          "referenceAllele": "",
          "start": 3649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017784.1:c.3633_3634dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873273.1:p.Asn1212ThrfsTer?",
        "hgvsWellDefined": "XP_016873273.1:p.[Asn1212_Arg1220delinsThrThrProProArgAlaAlaMetPro;Trp1222_Ser1226delinsAlaGlyPheSerCys;Cys1228_Ala1233delinsSerAlaTrpAlaValSer;Ser1235_Tyr1241delinsProProArgSerLeuSerSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569892"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3418,
          "referenceAllele": "",
          "start": 3418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017785.1:c.3402_3403dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873274.1:p.Asn1135ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569893"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3649,
          "referenceAllele": "",
          "start": 3649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017786.1:c.3633_3634dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873275.1:p.Asn1212ThrfsTer?",
        "hgvsWellDefined": "XP_016873275.1:p.[Asn1212_Arg1220delinsThrThrProProArgAlaAlaMetPro;Trp1222_Ser1226delinsAlaGlyPheSerCys;Cys1228_Ala1233delinsSerAlaTrpAlaValSer;Ser1235_Tyr1241delinsProProArgSerLeuSerSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569894"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3649,
          "referenceAllele": "",
          "start": 3649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017787.1:c.3633_3634dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873276.1:p.Asn1212ThrfsTer?",
        "hgvsWellDefined": "XP_016873276.1:p.[Asn1212_Arg1220delinsThrThrProProArgAlaAlaMetPro;Trp1222_Ser1226delinsAlaGlyPheSerCys;Cys1228_Ala1233delinsSerAlaTrpAlaValSer;Ser1235_Tyr1241delinsProProArgSerLeuSerSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569895"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3649,
          "referenceAllele": "",
          "start": 3649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017788.1:c.3633_3634dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873277.1:p.Asn1212ThrfsTer?",
        "hgvsWellDefined": "XP_016873277.1:p.[Asn1212_Arg1220delinsThrThrProProArgAlaAlaMetPro;Trp1222_Ser1226delinsAlaGlyPheSerCys;Cys1228_Ala1233delinsSerAlaTrpAlaValSer;Ser1235_Tyr1241delinsProProArgSerLeuSerSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569896"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3649,
          "referenceAllele": "",
          "start": 3649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_001747885.1:n.3648_3649dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595975"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3649,
          "referenceAllele": "",
          "start": 3649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_001747886.1:n.3648_3649dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595976"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3649,
          "referenceAllele": "",
          "start": 3649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_001747887.1:n.3648_3649dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595977"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3649,
          "referenceAllele": "",
          "start": 3649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_001747888.1:n.3648_3649dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595978"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3649,
          "referenceAllele": "",
          "start": 3649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_001747889.1:n.3648_3649dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595979"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3834,
          "referenceAllele": "",
          "start": 3834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_000260.4:c.3543_3544dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000251.3:p.Asn1182ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662373",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409709.9:c.3543_3544dup"
          },
          "RefSeq": {
            "hgvs": "NM_000260.4:c.3543_3544dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386331.3:p.Asn1182ThrfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000251.3:p.Asn1182ThrfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3834,
          "referenceAllele": "",
          "start": 3834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_001127180.2:c.3543_3544dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120652.1:p.Asn1182ThrfsTer?",
        "hgvsWellDefined": "NP_001120652.1:p.[Asn1182_Arg1190delinsThrThrProProArgAlaAlaMetPro;Trp1192_Ser1196delinsAlaGlyPheSerCys;Cys1198_Ala1203delinsSerAlaTrpAlaValSer;Ser1205_Tyr1211delinsProProArgSerLeuSerSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676839"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 3914,
          "referenceAllele": "",
          "start": 3914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_001369365.1:c.3510_3511dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356294.1:p.Asn1171ThrfsTer?",
        "hgvsWellDefined": "NP_001356294.1:p.[Asn1171_Arg1179delinsThrThrProProArgAlaAlaMetPro;Trp1181_Ser1185delinsAlaGlyPheSerCys;Cys1187_Ala1192delinsSerAlaTrpAlaValSer;Ser1194_Tyr1200delinsProProArgSerLeuSerSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691590"
    }
  ],
  "type": "nucleotide"
}