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        "hgvs": "NP_957705.1:p.Ile1128ThrfsTer13",
        "hgvsWellDefined": "NP_957705.1:p.[Ile1128_Ser1129del;Asn1131_Cys1137delinsLeuProIleGlnTrpSer;Gln1139_Asn1141delinsAla;Asn1144del;Asn1146_Ile1157del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367400.8:c.3383del"
          },
          "RefSeq": {
            "hgvs": "NM_201253.3:c.3383del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356370.3:p.Ile1128ThrfsTer13"
          },
          "RefSeq": {
            "hgvs": "NP_957705.1:p.Ile1128ThrfsTer13"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3208,
          "referenceAllele": "T",
          "start": 3207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001193640.2:c.3047del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180569.1:p.Ile1016ThrfsTer13",
        "hgvsWellDefined": "NP_001180569.1:p.[Ile1016_Ser1017del;Asn1019_Cys1025delinsLeuProIleGlnTrpSer;Gln1027_Asn1029delinsAla;Asn1032del;Asn1034_Ile1045del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679252"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3608,
          "referenceAllele": "T",
          "start": 3607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001257965.2:c.3311del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244894.1:p.Ile1104ThrfsTer13",
        "hgvsWellDefined": "NP_001244894.1:p.[Ile1104_Ser1105del;Asn1107_Cys1113delinsLeuProIleGlnTrpSer;Gln1115_Asn1117delinsAla;Asn1120del;Asn1122_Ile1133del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680747"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3336,
          "referenceAllele": "T",
          "start": 3335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NR_047563.2:n.3336del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702513"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3544,
          "referenceAllele": "T",
          "start": 3543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NR_047564.2:n.3544del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702514"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2289,
          "endIntronDirection": "-",
          "endIntronOffset": 353,
          "referenceAllele": "T",
          "start": 2289,
          "startIntronDirection": "-",
          "startIntronOffset": 354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001257966.2:c.2129-354del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244895.1:n.2129-354del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714892"
    }
  ],
  "type": "nucleotide"
}