{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA373253445",
  "communityStandardTitle": [
    "NM_012144.4(DNAI1):c.1019G>A (p.Trp340Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1954652[alleleid]",
        "alleleId": 1954652,
        "preferredName": "NM_012144.4(DNAI1):c.1019G>A (p.Trp340Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1903913",
        "RCV": [
          "RCV002573144",
          "RCV003614200"
        ],
        "variationId": 1903913
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.34500837G>A?assembly=hg19",
        "id": "chr9:g.34500837G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.34500839G>A?assembly=hg38",
        "id": "chr9:g.34500839G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2132072131",
        "rs": 2132072131
      }
    ]
  },
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      "chromosome": "9",
      "coordinates": [
        {
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          "end": 34500839,
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          "start": 34500838
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      ],
      "hgvs": [
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        "CM000671.2:g.34500839G>A"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
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          "end": 34500837,
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "9",
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          "end": 34490837,
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      ],
      "hgvs": [
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      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
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      "hgvs": [
        "NG_008127.1:g.47027G>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS000872"
    }
  ],
  "transcriptAlleles": [
    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741134",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "NM_012144.4:c.1019G>A"
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      }
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249206"
    },
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      "coordinates": [
        {
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        }
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402285"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580186092",
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        {
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      ],
      "gene": "http://reg.genome.network/gene/GN002954",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021615"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829723199",
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        {
          "allele": "A",
          "end": 1273,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
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      "geneSymbol": "DNAI1",
      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 574,
          "referenceAllele": "G",
          "start": 573
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      ],
      "gene": "http://reg.genome.network/gene/GN002954",
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      "geneSymbol": "DNAI1",
      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071831"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085028"
    },
    {
      "coordinates": [
        {
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        }
      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085029"
    },
    {
      "coordinates": [
        {
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011516150.1:p.Trp344_Thr617delinsAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnCysSerLysSerTyrSerSerGlnPheLeuAspThrTyrAspAlaHisAsnMetSerValAspThrValSerTrpAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysAlaHisIlePheAspLeuAlaIleAsnLysTyrGluAlaIleCysAsnGlnProValAlaAlaLysLysAsnArgLeuThrHisValGlnPheAsnLeuIleHisProIleIleIleValGlyAspAspArgGlyHisIleIleSerLeuLysLeuSerProAsnLeuArgLysMetProLysGluLysLysGlyGlnGluValGlnLysGlyProAlaValGluIleAlaLysLeuAspLysLeuLeuAsnLeuValArgGluValLysIleLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085030"
    },
    {
      "coordinates": [
        {
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      ],
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        "hgvsWellDefined": "XP_011516151.1:p.Trp344_Leu546delinsAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnValLysTrpGlnLysAspAspMetAspGlnAsnLeuAsnPhePheSerValSerSerAspGlyArgIleValSerTrpThrLeuValLysArgLysLeuValHisIleAspValIleLysLeuLysValGluGlySerThrThrGluValProGluGlyLeuGlnLeuHisProValGlyCysGlyThrAlaPheAspPheHisLysGluIleAspTyrMetPheLeuValGlyThrGluGluGlyLysIleTyrLysLeuArgLeuAspSerGluAspLeuGlyProHisHisGlnAspProAspValHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085031"
    },
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        {
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        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085032"
    },
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        {
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS125478"
    },
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS125479"
    },
    {
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          "start": 915
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539243"
    },
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        {
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544692"
    },
    {
      "coordinates": [
        {
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          "end": 1232,
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          "start": 1231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
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      ],
      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544693"
    },
    {
      "coordinates": [
        {
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        }
      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544694"
    },
    {
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        {
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544695"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1232,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011516152.1:p.Trp344_Pro477delinsAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnAspTrpGluAspLeuArgMetAsnPheCysLeuLysLeuLeuLysValSerGlyLeuIleArgGlnGlnTrpAspSerValPheSerSerPheThrSerLeuLeuProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544696"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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          "referenceAllele": "G",
          "start": 1199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS602912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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        }
      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS609139"
    },
    {
      "coordinates": [
        {
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      ],
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      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609140"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829723199",
      "coordinates": [
        {
          "allele": "A",
          "end": 1220,
          "referenceAllele": "G",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667918",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242317.9:c.1019G>A"
          },
          "RefSeq": {
            "hgvs": "NM_012144.4:c.1019G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242317.4:p.Trp340Ter"
          },
          "RefSeq": {
            "hgvs": "NP_036276.1:p.Trp340Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580186092",
      "coordinates": [
        {
          "allele": "A",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "NM_001281428.2:c.1031G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268357.1:p.Trp344Ter",
        "hgvsWellDefined": "NP_001268357.1:p.Trp344_Thr703delinsAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnValLysTrpGlnLysAspAspMetAspGlnAsnLeuAsnPhePheSerValSerSerAspGlyArgIleValSerTrpThrLeuValLysArgLysLeuValHisIleAspValIleLysLeuLysValGluGlySerThrThrGluValProGluGlyLeuGlnLeuHisProValGlyCysGlyThrAlaPheAspPheHisLysGluIleAspTyrMetPheLeuValGlyThrGluGluGlyLysIleTyrLysCysSerLysSerTyrSerSerGlnPheLeuAspThrTyrAspAlaHisAsnMetSerValAspThrValSerTrpAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysAlaHisIlePheAspLeuAlaIleAsnLysTyrGluAlaIleCysAsnGlnProValAlaAlaLysLysAsnArgLeuThrHisValGlnPheAsnLeuIleHisProIleIleIleValGlyAspAspArgGlyHisIleIleSerLeuLysLeuSerProAsnLeuArgLysMetProLysGluLysLysGlyGlnGluValGlnLysGlyProAlaValGluIleAlaLysLeuAspLysLeuLeuAsnLeuValArgGluValLysIleLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715686"
    }
  ],
  "type": "nucleotide"
}