{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA344833441",
  "communityStandardTitle": [
    "NM_206933.4(USH2A):c.14506C>T (p.Gln4836Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.215821946G>A?assembly=hg19",
        "id": "chr1:g.215821946G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.215648604G>A?assembly=hg38",
        "id": "chr1:g.215648604G>A"
      }
    ]
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      "chromosome": "1",
      "coordinates": [
        {
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          "end": 215648604,
          "referenceAllele": "G",
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      ],
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        "CM000663.2:g.215648604G>A"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
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          "end": 215821946,
          "referenceAllele": "G",
          "start": 215821945
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
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          "end": 213888569,
          "referenceAllele": "G",
          "start": 213888568
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      ],
      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
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          "end": 779793,
          "referenceAllele": "C",
          "start": 779792
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      ],
      "hgvs": [
        "NG_009497.1:g.779793C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001602"
    },
    {
      "coordinates": [
        {
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          "end": 779845,
          "referenceAllele": "C",
          "start": 779844
        }
      ],
      "hgvs": [
        "NG_009497.2:g.779845C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706096"
    }
  ],
  "transcriptAlleles": [
    {
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      "geneNCBI_id": 7399,
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745360",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307340.8:c.14506C>T"
          },
          "RefSeq": {
            "hgvs": "NM_206933.4:c.14506C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305941.3:p.Gln4836Ter"
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          "RefSeq": {
            "hgvs": "NP_996816.3:p.Gln4836Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14945,
          "referenceAllele": "C",
          "start": 14944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000674083.1:c.14506C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000501296.1:p.Gln4836_Leu5226delinsIleGlyThrLeuAlaSerArgThrAlaSerPheArgTrpSerProProMetPheProAsnGlyValIleHisSerTyrGluLeuGlnPheHisValAlaCysProProAspSerAlaLeuProCysThrProSerGlnIleGluThrLysTyrThrGlyLeuGlyGlnLysAlaSerLeuGlyGlyLeuGlnProTyrThrThrTyrLysLeuArgValValAlaHisAsnGluValGlySerThrAlaSerGluTrpIleSerPheThrThrGlnLysGluLeuProGlnTyrArgAlaProPheSerValAspSerAsnLeuSerValValCysValAsnTrpSerAspThrPheLeuLeuAsnGlyGlnLeuLysGluTyrValLeuThrAspGlyGlyArgArgValTyrSerGlyLeuAspThrThrLeuTyrIleProArgThrAlaAspLysThrPhePhePheGlnValIleCysThrThrAspGluGlySerValLysThrProLeuIleGlnTyrAspThrSerThrGlyLeuGlyLeuValLeuThrThrProGlyLysLysLysGlySerArgSerLysSerThrGluPheTyrSerGluLeuTrpPheIleValLeuMetAlaMetLeuGlyLeuIleLeuLeuAlaIlePheLeuSerLeuIleLeuGlnArgLysIleHisLysGluProTyrIleArgGluArgProProLeuValProLeuGlnLysArgMetSerProLeuAsnValTyrProProGlyGluAsnHisMetPheAspSerValAlaAspIleSerAspValSerSerAsnValThrLeuLysSerTyrThrMetHisPheGluGlyLeuAlaAspThrLysIleProArgSerGlyThrProValSerIleArgSerAsnArgSerAlaCysValLeuArgIleProSerGlnAsnGlnThrSerLeuThrTyrSerGlnGlySerLeuHisArgSerValSerGlnLeuMetAspIleGlnAspLysLysValLeuMetAspAsnSerLeuTrpGluAlaIleMetGlyHisAsnSerGlyLeuTyrValAspGluGluAspLeuMetAsnAlaIleLysAspPheSerSerValThrLysGluArgThrThrPheThrAspThrHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774106"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14893,
          "referenceAllele": "C",
          "start": 14892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000307340.7:c.14506C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000305941.3:p.Gln4836_Leu5202delinsIleGlyThrLeuAlaSerArgThrAlaSerPheArgTrpSerProProMetPheProAsnGlyValIleHisSerTyrGluLeuGlnPheHisValAlaCysProProAspSerAlaLeuProCysThrProSerGlnIleGluThrLysTyrThrGlyLeuGlyGlnLysAlaSerLeuGlyGlyLeuGlnProTyrThrThrTyrLysLeuArgValValAlaHisAsnGluValGlySerThrAlaSerGluTrpIleSerPheThrThrGlnLysGluLeuProGlnTyrArgAlaProPheSerValAspSerAsnLeuSerValValCysValAsnTrpSerAspThrPheLeuLeuAsnGlyGlnLeuLysGluTyrValLeuThrAspGlyGlyArgArgValTyrSerGlyLeuAspThrThrLeuTyrIleProArgThrAlaAspLysThrPhePhePheGlnValIleCysThrThrAspGluGlySerValLysThrProLeuIleGlnTyrAspThrSerThrGlyLeuGlyLeuValLeuThrThrProGlyLysLysLysGlySerArgSerLysSerThrGluPheTyrSerGluLeuTrpPheIleValLeuMetAlaMetLeuGlyLeuIleLeuLeuAlaIlePheLeuSerLeuIleLeuGlnArgLysIleHisLysGluProTyrIleArgGluArgProProLeuValProLeuGlnLysArgMetSerProLeuAsnValTyrProProGlyGluAsnHisMetGlyLeuAlaAspThrLysIleProArgSerGlyThrProValSerIleArgSerAsnArgSerAlaCysValLeuArgIleProSerGlnAsnGlnThrSerLeuThrTyrSerGlnGlySerLeuHisArgSerValSerGlnLeuMetAspIleGlnAspLysLysValLeuMetAspAsnSerLeuTrpGluAlaIleMetGlyHisAsnSerGlyLeuTyrValAspGluGluAspLeuMetAsnAlaIleLysAspPheSerSerValThrLysGluArgThrThrPheThrAspThrHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255872"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14893,
          "referenceAllele": "C",
          "start": 14892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_206933.2:c.14506C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_996816.2:p.Gln4836Ter",
        "hgvsWellDefined": "NP_996816.2:p.Gln4836_Leu5202delinsIleGlyThrLeuAlaSerArgThrAlaSerPheArgTrpSerProProMetPheProAsnGlyValIleHisSerTyrGluLeuGlnPheHisValAlaCysProProAspSerAlaLeuProCysThrProSerGlnIleGluThrLysTyrThrGlyLeuGlyGlnLysAlaSerLeuGlyGlyLeuGlnProTyrThrThrTyrLysLeuArgValValAlaHisAsnGluValGlySerThrAlaSerGluTrpIleSerPheThrThrGlnLysGluLeuProGlnTyrArgAlaProPheSerValAspSerAsnLeuSerValValCysValAsnTrpSerAspThrPheLeuLeuAsnGlyGlnLeuLysGluTyrValLeuThrAspGlyGlyArgArgValTyrSerGlyLeuAspThrThrLeuTyrIleProArgThrAlaAspLysThrPhePhePheGlnValIleCysThrThrAspGluGlySerValLysThrProLeuIleGlnTyrAspThrSerThrGlyLeuGlyLeuValLeuThrThrProGlyLysLysLysGlySerArgSerLysSerThrGluPheTyrSerGluLeuTrpPheIleValLeuMetAlaMetLeuGlyLeuIleLeuLeuAlaIlePheLeuSerLeuIleLeuGlnArgLysIleHisLysGluProTyrIleArgGluArgProProLeuValProLeuGlnLysArgMetSerProLeuAsnValTyrProProGlyGluAsnHisMetGlyLeuAlaAspThrLysIleProArgSerGlyThrProValSerIleArgSerAsnArgSerAlaCysValLeuArgIleProSerGlnAsnGlnThrSerLeuThrTyrSerGlnGlySerLeuHisArgSerValSerGlnLeuMetAspIleGlnAspLysLysValLeuMetAspAsnSerLeuTrpGluAlaIleMetGlyHisAsnSerGlyLeuTyrValAspGluGluAspLeuMetAsnAlaIleLysAspPheSerSerValThrLysGluArgThrThrPheThrAspThrHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045339"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14945,
          "referenceAllele": "C",
          "start": 14944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_206933.3:c.14506C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_996816.2:p.Gln4836Ter",
        "hgvsWellDefined": "NP_996816.2:p.Gln4836_Leu5202delinsIleGlyThrLeuAlaSerArgThrAlaSerPheArgTrpSerProProMetPheProAsnGlyValIleHisSerTyrGluLeuGlnPheHisValAlaCysProProAspSerAlaLeuProCysThrProSerGlnIleGluThrLysTyrThrGlyLeuGlyGlnLysAlaSerLeuGlyGlyLeuGlnProTyrThrThrTyrLysLeuArgValValAlaHisAsnGluValGlySerThrAlaSerGluTrpIleSerPheThrThrGlnLysGluLeuProGlnTyrArgAlaProPheSerValAspSerAsnLeuSerValValCysValAsnTrpSerAspThrPheLeuLeuAsnGlyGlnLeuLysGluTyrValLeuThrAspGlyGlyArgArgValTyrSerGlyLeuAspThrThrLeuTyrIleProArgThrAlaAspLysThrPhePhePheGlnValIleCysThrThrAspGluGlySerValLysThrProLeuIleGlnTyrAspThrSerThrGlyLeuGlyLeuValLeuThrThrProGlyLysLysLysGlySerArgSerLysSerThrGluPheTyrSerGluLeuTrpPheIleValLeuMetAlaMetLeuGlyLeuIleLeuLeuAlaIlePheLeuSerLeuIleLeuGlnArgLysIleHisLysGluProTyrIleArgGluArgProProLeuValProLeuGlnLysArgMetSerProLeuAsnValTyrProProGlyGluAsnHisMetGlyLeuAlaAspThrLysIleProArgSerGlyThrProValSerIleArgSerAsnArgSerAlaCysValLeuArgIleProSerGlnAsnGlnThrSerLeuThrTyrSerGlnGlySerLeuHisArgSerValSerGlnLeuMetAspIleGlnAspLysLysValLeuMetAspAsnSerLeuTrpGluAlaIleMetGlyHisAsnSerGlyLeuTyrValAspGluGluAspLeuMetAsnAlaIleLysAspPheSerSerValThrLysGluArgThrThrPheThrAspThrHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673266"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14945,
          "referenceAllele": "C",
          "start": 14944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_206933.4:c.14506C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_996816.3:p.Gln4836Ter",
        "hgvsWellDefined": "NP_996816.3:p.Gln4836_Leu5202delinsIleGlyThrLeuAlaSerArgThrAlaSerPheArgTrpSerProProMetPheProAsnGlyValIleHisSerTyrGluLeuGlnPheHisValAlaCysProProAspSerAlaLeuProCysThrProSerGlnIleGluThrLysTyrThrGlyLeuGlyGlnLysAlaSerLeuGlyGlyLeuGlnProTyrThrThrTyrLysLeuArgValValAlaHisAsnGluValGlySerThrAlaSerGluTrpIleSerPheThrThrGlnLysGluLeuProGlnTyrArgAlaProPheSerValAspSerAsnLeuSerValValCysValAsnTrpSerAspThrPheLeuLeuAsnGlyGlnLeuLysGluTyrValLeuThrAspGlyGlyArgArgValTyrSerGlyLeuAspThrThrLeuTyrIleProArgThrAlaAspLysThrPhePhePheGlnValIleCysThrThrAspGluGlySerValLysThrProLeuIleGlnTyrAspThrSerThrGlyLeuGlyLeuValLeuThrThrProGlyLysLysLysGlySerArgSerLysSerThrGluPheTyrSerGluLeuTrpPheIleValLeuMetAlaMetLeuGlyLeuIleLeuLeuAlaIlePheLeuSerLeuIleLeuGlnArgLysIleHisLysGluProTyrIleArgGluArgProProLeuValProLeuGlnLysArgMetSerProLeuAsnValTyrProProGlyGluAsnHisMetGlyLeuAlaAspThrLysIleProArgSerGlyThrProValSerIleArgSerAsnArgSerAlaCysValLeuArgIleProSerGlnAsnGlnThrSerLeuThrTyrSerGlnGlySerLeuHisArgSerValSerGlnLeuMetAspIleGlnAspLysLysValLeuMetAspAsnSerLeuTrpGluAlaIleMetGlyHisAsnSerGlyLeuTyrValAspGluGluAspLeuMetAsnAlaIleLysAspPheSerSerValThrLysGluArgThrThrPheThrAspThrHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307340.8:c.14506C>T"
          },
          "RefSeq": {
            "hgvs": "NM_206933.4:c.14506C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305941.3:p.Gln4836Ter"
          },
          "RefSeq": {
            "hgvs": "NP_996816.3:p.Gln4836Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}