{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1139662687",
  "communityStandardTitle": [
    "NM_000486.6(AQP2):c.797_*17del"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=962731[alleleid]",
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        "preferredName": "NM_000486.6(AQP2):c.797_*17del (p.Pro266fs)"
      }
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/974414",
        "RCV": [
          "RCV001281166"
        ],
        "variationId": 974414
      }
    ],
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1947362334",
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      }
    ]
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      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 49955625,
          "referenceAllele": "CACGGGGTACCAAGGCCTGAGGGCCGCCAGCGGCCTC",
          "start": 49955588
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        "CM000674.2:g.49955589_49955625del"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 50349408,
          "referenceAllele": "CACGGGGTACCAAGGCCTGAGGGCCGCCAGCGGCCTC",
          "start": 50349371
        }
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        "CM000674.1:g.50349372_50349408del"
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 48635675,
          "referenceAllele": "CACGGGGTACCAAGGCCTGAGGGCCGCCAGCGGCCTC",
          "start": 48635638
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      ],
      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 9885,
          "referenceAllele": "CACGGGGTACCAAGGCCTGAGGGCCGCCAGCGGCCTC",
          "start": 9848
        }
      ],
      "hgvs": [
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        "LRG_717:g.9849_9885del"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001292"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 927,
          "referenceAllele": "CACGGGGTACCAAGGCCTGAGGGCCGCCAGCGGCCTC",
          "start": 890
        }
      ],
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      "geneNCBI_id": 359,
      "geneSymbol": "AQP2",
      "hgvs": [
        "ENST00000199280.4:c.797_*17del"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740129",
      "MANE": {
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        "maneStatus": "MANE Select",
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            "hgvs": "ENST00000199280.4:c.797_*17del"
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          "RefSeq": {
            "hgvs": "NM_000486.6:c.797_*17del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000199280.3:n.[c.797_*17del;Pro266LeufsTer?]"
          },
          "RefSeq": {
            "hgvs": "NP_000477.1:n.[c.797_*17del;Pro266LeufsTer?]"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 918,
          "referenceAllele": "CACGGGGTACCAAGGCCTGAGGGCCGCCAGCGGCCTC",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000634",
      "geneNCBI_id": 359,
      "geneSymbol": "AQP2",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000199280.3:p.[Leu265_Pro266insLeuArg;Arg267_Gly268insArgThrLeuValArgProGluAlaGlu;Gly268_Thr269insPro;Lys270delinsProSerLeuLeuSerArgArgSerGluValGlyProPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247757"
    },
    {
      "coordinates": [
        {
          "allele": "",
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          "endIntronDirection": "-",
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          "start": 721,
          "startIntronDirection": "+",
          "startIntronOffset": 165
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      ],
      "gene": "http://reg.genome.network/gene/GN000634",
      "geneNCBI_id": 359,
      "geneSymbol": "AQP2",
      "hgvs": [
        "ENST00000551526.5:c.631+166_632-161del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447148.1:n.631+166_632-161del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368712"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 923,
          "referenceAllele": "CACGGGGTACCAAGGCCTGAGGGCCGCCAGCGGCCTC",
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      "gene": "http://reg.genome.network/gene/GN000634",
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      "hgvs": [
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        "LRG_717t1:c.797_*17del"
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        "hgvs": "NP_000477.1:n.[c.797_*17del;Pro266LeufsTer?]",
        "hgvsWellDefined": "NP_000477.1:p.[Leu265_Pro266insLeuArg;Arg267_Gly268insArgThrLeuValArgProGluAlaGlu;Gly268_Thr269insPro;Lys270delinsProSerLeuLeuSerArgArgSerGluValGlyProPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006540"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 256,
          "endIntronDirection": "-",
          "endIntronOffset": 1239,
          "referenceAllele": "GGCCGCTGGCGGCCCTCAGGCCTTGGTACCCCGTGGA",
          "start": 256,
          "startIntronDirection": "-",
          "startIntronOffset": 1276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055474",
      "geneNCBI_id": 101927318,
      "geneSymbol": "AQP5-AS1",
      "hgvs": [
        "NR_110590.1:n.257-1276_257-1240del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054754"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 117,
          "endIntronDirection": "-",
          "endIntronOffset": 3499,
          "referenceAllele": "GGCCGCTGGCGGCCCTCAGGCCTTGGTACCCCGTGGA",
          "start": 117,
          "startIntronDirection": "-",
          "startIntronOffset": 3536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055474",
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      "geneSymbol": "AQP5-AS1",
      "hgvs": [
        "NR_110591.1:n.118-3536_118-3500del"
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      "referenceSequence": "http://reg.genome.network/refseq/RS054755"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 927,
          "referenceAllele": "CACGGGGTACCAAGGCCTGAGGGCCGCCAGCGGCCTC",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN000634",
      "geneNCBI_id": 359,
      "geneSymbol": "AQP2",
      "hgvs": [
        "NM_000486.6:c.797_*17del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000477.1:n.[c.797_*17del;Pro266LeufsTer?]",
        "hgvsWellDefined": "NP_000477.1:p.[Leu265_Pro266insLeuArg;Arg267_Gly268insArgThrLeuValArgProGluAlaGlu;Gly268_Thr269insPro;Lys270delinsProSerLeuLeuSerArgArgSerGluValGlyProPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674865",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000199280.4:c.797_*17del"
          },
          "RefSeq": {
            "hgvs": "NM_000486.6:c.797_*17del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000199280.3:n.[c.797_*17del;Pro266LeufsTer?]"
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          "RefSeq": {
            "hgvs": "NP_000477.1:n.[c.797_*17del;Pro266LeufsTer?]"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}