{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA344846468",
  "communityStandardTitle": [
    "NM_206933.4(USH2A):c.13130C>G (p.Ser4377Ter)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.215848123G>C?assembly=hg19",
        "id": "chr1:g.215848123G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.215674781G>C?assembly=hg38",
        "id": "chr1:g.215674781G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/111033385",
        "rs": 111033385
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 215674781,
          "referenceAllele": "G",
          "start": 215674780
        }
      ],
      "hgvs": [
        "NC_000001.11:g.215674781G>C",
        "CM000663.2:g.215674781G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 215848123,
          "referenceAllele": "G",
          "start": 215848122
        }
      ],
      "hgvs": [
        "NC_000001.10:g.215848123G>C",
        "CM000663.1:g.215848123G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 213914746,
          "referenceAllele": "G",
          "start": 213914745
        }
      ],
      "hgvs": [
        "NC_000001.9:g.213914746G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 753616,
          "referenceAllele": "C",
          "start": 753615
        }
      ],
      "hgvs": [
        "NG_009497.1:g.753616C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001602"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 753668,
          "referenceAllele": "C",
          "start": 753667
        }
      ],
      "hgvs": [
        "NG_009497.2:g.753668C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706096"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13569,
          "referenceAllele": "C",
          "start": 13568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000307340.8:c.13130C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305941.3:p.Ser4377Ter",
        "hgvsWellDefined": "ENSP00000305941.3:p.Ser4377_Leu5202delinsProProThrValGlnAsnGlyLysIleThrLysTyrLeuValArgTyrAspAsnLysGluSerLeuAlaGlyGlnGlyLeuCysLeuLeuValSerHisLeuGlnProTyrSerGlnTyrAsnPheSerLeuValAlaCysThrAsnGlyGlyCysThrAlaSerValSerLysSerAlaTrpThrMetGluAlaLeuProGluAsnMetAspSerProThrLeuGlnValThrGlySerGluSerIleGluIleThrTrpLysProProArgAsnProAsnGlyGlnIleArgSerTyrGluLeuArgArgAspGlyThrIleValTyrThrGlyLeuGluThrArgTyrArgAspPheThrLeuThrProGlyValGluTyrSerTyrThrValThrAlaSerAsnSerGlnGlyGlyIleLeuSerProLeuValLysAspArgThrSerProSerAlaProSerGlyMetGluProProLysLeuGlnAlaArgGlyProGlnGluIleLeuValAsnTrpAspProProValArgThrAsnGlyAspIleIleAsnTyrThrLeuPheIleArgGluLeuPheGluArgGluThrLysIleIleHisIleAsnThrThrHisAsnSerPheGlyMetGlnSerTyrIleValAsnGlnLeuLysProPheHisArgTyrGluIleArgIleGlnAlaCysThrThrLeuGlyCysAlaSerSerAspTrpThrPheIleGlnThrProGluIleAlaProLeuMetGlnProProProHisLeuGluValGlnMetAlaProGlyGlyPheGlnProThrValSerLeuLeuTrpThrGlyProLeuGlnProAsnGlyLysValLeuTyrTyrGluLeuTyrArgArgGlnIleAlaThrGlnProArgLysSerAsnProValLeuIleTyrAsnGlySerSerThrSerPheIleAspSerGluLeuLeuProPheThrGluTyrGluTyrGlnValTrpAlaValAsnSerAlaGlyLysAlaProSerSerTrpThrTrpCysArgThrGlyProAlaProProGluGlyLeuArgAlaProThrPheHisValIleSerSerThrGlnAlaValValAsnIleSerAlaProGlyLysProAsnGlyIleValSerLeuTyrArgLeuPheSerSerSerAlaHisGlyAlaGluThrValLeuSerGluGlyMetAlaThrGlnGlnThrLeuHisGlyLeuGlnAlaPheThrAsnTyrSerIleGlyValGluAlaCysThrCysPheAsnCysCysSerLysGlyProThrAlaGluLeuArgThrHisProAlaProProSerGlyLeuSerSerProGlnIleGlyThrLeuAlaSerArgThrAlaSerPheArgTrpSerProProMetPheProAsnGlyValIleHisSerTyrGluLeuGlnPheHisValAlaCysProProAspSerAlaLeuProCysThrProSerGlnIleGluThrLysTyrThrGlyLeuGlyGlnLysAlaSerLeuGlyGlyLeuGlnProTyrThrThrTyrLysLeuArgValValAlaHisAsnGluValGlySerThrAlaSerGluTrpIleSerPheThrThrGlnLysGluLeuProGlnTyrArgAlaProPheSerValAspSerAsnLeuSerValValCysValAsnTrpSerAspThrPheLeuLeuAsnGlyGlnLeuLysGluTyrValLeuThrAspGlyGlyArgArgValTyrSerGlyLeuAspThrThrLeuTyrIleProArgThrAlaAspLysThrPhePhePheGlnValIleCysThrThrAspGluGlySerValLysThrProLeuIleGlnTyrAspThrSerThrGlyLeuGlyLeuValLeuThrThrProGlyLysLysLysGlySerArgSerLysSerThrGluPheTyrSerGluLeuTrpPheIleValLeuMetAlaMetLeuGlyLeuIleLeuLeuAlaIlePheLeuSerLeuIleLeuGlnArgLysIleHisLysGluProTyrIleArgGluArgProProLeuValProLeuGlnLysArgMetSerProLeuAsnValTyrProProGlyGluAsnHisMetGlyLeuAlaAspThrLysIleProArgSerGlyThrProValSerIleArgSerAsnArgSerAlaCysValLeuArgIleProSerGlnAsnGlnThrSerLeuThrTyrSerGlnGlySerLeuHisArgSerValSerGlnLeuMetAspIleGlnAspLysLysValLeuMetAspAsnSerLeuTrpGluAlaIleMetGlyHisAsnSerGlyLeuTyrValAspGluGluAspLeuMetAsnAlaIleLysAspPheSerSerValThrLysGluArgThrThrPheThrAspThrHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745360",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307340.8:c.13130C>G"
          },
          "RefSeq": {
            "hgvs": "NM_206933.4:c.13130C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305941.3:p.Ser4377Ter"
          },
          "RefSeq": {
            "hgvs": "NP_996816.3:p.Ser4377Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13569,
          "referenceAllele": "C",
          "start": 13568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000674083.1:c.13130C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501296.1:p.Ser4377Ter",
        "hgvsWellDefined": "ENSP00000501296.1:p.Ser4377_Leu5226delinsProProThrValGlnAsnGlyLysIleThrLysTyrLeuValArgTyrAspAsnLysGluSerLeuAlaGlyGlnGlyLeuCysLeuLeuValSerHisLeuGlnProTyrSerGlnTyrAsnPheSerLeuValAlaCysThrAsnGlyGlyCysThrAlaSerValSerLysSerAlaTrpThrMetGluAlaLeuProGluAsnMetAspSerProThrLeuGlnValThrGlySerGluSerIleGluIleThrTrpLysProProArgAsnProAsnGlyGlnIleArgSerTyrGluLeuArgArgAspGlyThrIleValTyrThrGlyLeuGluThrArgTyrArgAspPheThrLeuThrProGlyValGluTyrSerTyrThrValThrAlaSerAsnSerGlnGlyGlyIleLeuSerProLeuValLysAspArgThrSerProSerAlaProSerGlyMetGluProProLysLeuGlnAlaArgGlyProGlnGluIleLeuValAsnTrpAspProProValArgThrAsnGlyAspIleIleAsnTyrThrLeuPheIleArgGluLeuPheGluArgGluThrLysIleIleHisIleAsnThrThrHisAsnSerPheGlyMetGlnSerTyrIleValAsnGlnLeuLysProPheHisArgTyrGluIleArgIleGlnAlaCysThrThrLeuGlyCysAlaSerSerAspTrpThrPheIleGlnThrProGluIleAlaProLeuMetGlnProProProHisLeuGluValGlnMetAlaProGlyGlyPheGlnProThrValSerLeuLeuTrpThrGlyProLeuGlnProAsnGlyLysValLeuTyrTyrGluLeuTyrArgArgGlnIleAlaThrGlnProArgLysSerAsnProValLeuIleTyrAsnGlySerSerThrSerPheIleAspSerGluLeuLeuProPheThrGluTyrGluTyrGlnValTrpAlaValAsnSerAlaGlyLysAlaProSerSerTrpThrTrpCysArgThrGlyProAlaProProGluGlyLeuArgAlaProThrPheHisValIleSerSerThrGlnAlaValValAsnIleSerAlaProGlyLysProAsnGlyIleValSerLeuTyrArgLeuPheSerSerSerAlaHisGlyAlaGluThrValLeuSerGluGlyMetAlaThrGlnGlnThrLeuHisGlyLeuGlnAlaPheThrAsnTyrSerIleGlyValGluAlaCysThrCysPheAsnCysCysSerLysGlyProThrAlaGluLeuArgThrHisProAlaProProSerGlyLeuSerSerProGlnIleGlyThrLeuAlaSerArgThrAlaSerPheArgTrpSerProProMetPheProAsnGlyValIleHisSerTyrGluLeuGlnPheHisValAlaCysProProAspSerAlaLeuProCysThrProSerGlnIleGluThrLysTyrThrGlyLeuGlyGlnLysAlaSerLeuGlyGlyLeuGlnProTyrThrThrTyrLysLeuArgValValAlaHisAsnGluValGlySerThrAlaSerGluTrpIleSerPheThrThrGlnLysGluLeuProGlnTyrArgAlaProPheSerValAspSerAsnLeuSerValValCysValAsnTrpSerAspThrPheLeuLeuAsnGlyGlnLeuLysGluTyrValLeuThrAspGlyGlyArgArgValTyrSerGlyLeuAspThrThrLeuTyrIleProArgThrAlaAspLysThrPhePhePheGlnValIleCysThrThrAspGluGlySerValLysThrProLeuIleGlnTyrAspThrSerThrGlyLeuGlyLeuValLeuThrThrProGlyLysLysLysGlySerArgSerLysSerThrGluPheTyrSerGluLeuTrpPheIleValLeuMetAlaMetLeuGlyLeuIleLeuLeuAlaIlePheLeuSerLeuIleLeuGlnArgLysIleHisLysGluProTyrIleArgGluArgProProLeuValProLeuGlnLysArgMetSerProLeuAsnValTyrProProGlyGluAsnHisMetPheAspSerValAlaAspIleSerAspValSerSerAsnValThrLeuLysSerTyrThrMetHisPheGluGlyLeuAlaAspThrLysIleProArgSerGlyThrProValSerIleArgSerAsnArgSerAlaCysValLeuArgIleProSerGlnAsnGlnThrSerLeuThrTyrSerGlnGlySerLeuHisArgSerValSerGlnLeuMetAspIleGlnAspLysLysValLeuMetAspAsnSerLeuTrpGluAlaIleMetGlyHisAsnSerGlyLeuTyrValAspGluGluAspLeuMetAsnAlaIleLysAspPheSerSerValThrLysGluArgThrThrPheThrAspThrHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774106"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13517,
          "referenceAllele": "C",
          "start": 13516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000307340.7:c.13130C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305941.3:p.Ser4377Ter",
        "hgvsWellDefined": "ENSP00000305941.3:p.Ser4377_Leu5202delinsProProThrValGlnAsnGlyLysIleThrLysTyrLeuValArgTyrAspAsnLysGluSerLeuAlaGlyGlnGlyLeuCysLeuLeuValSerHisLeuGlnProTyrSerGlnTyrAsnPheSerLeuValAlaCysThrAsnGlyGlyCysThrAlaSerValSerLysSerAlaTrpThrMetGluAlaLeuProGluAsnMetAspSerProThrLeuGlnValThrGlySerGluSerIleGluIleThrTrpLysProProArgAsnProAsnGlyGlnIleArgSerTyrGluLeuArgArgAspGlyThrIleValTyrThrGlyLeuGluThrArgTyrArgAspPheThrLeuThrProGlyValGluTyrSerTyrThrValThrAlaSerAsnSerGlnGlyGlyIleLeuSerProLeuValLysAspArgThrSerProSerAlaProSerGlyMetGluProProLysLeuGlnAlaArgGlyProGlnGluIleLeuValAsnTrpAspProProValArgThrAsnGlyAspIleIleAsnTyrThrLeuPheIleArgGluLeuPheGluArgGluThrLysIleIleHisIleAsnThrThrHisAsnSerPheGlyMetGlnSerTyrIleValAsnGlnLeuLysProPheHisArgTyrGluIleArgIleGlnAlaCysThrThrLeuGlyCysAlaSerSerAspTrpThrPheIleGlnThrProGluIleAlaProLeuMetGlnProProProHisLeuGluValGlnMetAlaProGlyGlyPheGlnProThrValSerLeuLeuTrpThrGlyProLeuGlnProAsnGlyLysValLeuTyrTyrGluLeuTyrArgArgGlnIleAlaThrGlnProArgLysSerAsnProValLeuIleTyrAsnGlySerSerThrSerPheIleAspSerGluLeuLeuProPheThrGluTyrGluTyrGlnValTrpAlaValAsnSerAlaGlyLysAlaProSerSerTrpThrTrpCysArgThrGlyProAlaProProGluGlyLeuArgAlaProThrPheHisValIleSerSerThrGlnAlaValValAsnIleSerAlaProGlyLysProAsnGlyIleValSerLeuTyrArgLeuPheSerSerSerAlaHisGlyAlaGluThrValLeuSerGluGlyMetAlaThrGlnGlnThrLeuHisGlyLeuGlnAlaPheThrAsnTyrSerIleGlyValGluAlaCysThrCysPheAsnCysCysSerLysGlyProThrAlaGluLeuArgThrHisProAlaProProSerGlyLeuSerSerProGlnIleGlyThrLeuAlaSerArgThrAlaSerPheArgTrpSerProProMetPheProAsnGlyValIleHisSerTyrGluLeuGlnPheHisValAlaCysProProAspSerAlaLeuProCysThrProSerGlnIleGluThrLysTyrThrGlyLeuGlyGlnLysAlaSerLeuGlyGlyLeuGlnProTyrThrThrTyrLysLeuArgValValAlaHisAsnGluValGlySerThrAlaSerGluTrpIleSerPheThrThrGlnLysGluLeuProGlnTyrArgAlaProPheSerValAspSerAsnLeuSerValValCysValAsnTrpSerAspThrPheLeuLeuAsnGlyGlnLeuLysGluTyrValLeuThrAspGlyGlyArgArgValTyrSerGlyLeuAspThrThrLeuTyrIleProArgThrAlaAspLysThrPhePhePheGlnValIleCysThrThrAspGluGlySerValLysThrProLeuIleGlnTyrAspThrSerThrGlyLeuGlyLeuValLeuThrThrProGlyLysLysLysGlySerArgSerLysSerThrGluPheTyrSerGluLeuTrpPheIleValLeuMetAlaMetLeuGlyLeuIleLeuLeuAlaIlePheLeuSerLeuIleLeuGlnArgLysIleHisLysGluProTyrIleArgGluArgProProLeuValProLeuGlnLysArgMetSerProLeuAsnValTyrProProGlyGluAsnHisMetGlyLeuAlaAspThrLysIleProArgSerGlyThrProValSerIleArgSerAsnArgSerAlaCysValLeuArgIleProSerGlnAsnGlnThrSerLeuThrTyrSerGlnGlySerLeuHisArgSerValSerGlnLeuMetAspIleGlnAspLysLysValLeuMetAspAsnSerLeuTrpGluAlaIleMetGlyHisAsnSerGlyLeuTyrValAspGluGluAspLeuMetAsnAlaIleLysAspPheSerSerValThrLysGluArgThrThrPheThrAspThrHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255872"
    },
    {
      "@id": "http://reg.genome.network/allele/PA262085",
      "coordinates": [
        {
          "allele": "G",
          "end": 13517,
          "referenceAllele": "C",
          "start": 13516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_206933.2:c.13130C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_996816.2:p.Ser4377Ter",
        "hgvsWellDefined": "NP_996816.2:p.Ser4377_Leu5202delinsProProThrValGlnAsnGlyLysIleThrLysTyrLeuValArgTyrAspAsnLysGluSerLeuAlaGlyGlnGlyLeuCysLeuLeuValSerHisLeuGlnProTyrSerGlnTyrAsnPheSerLeuValAlaCysThrAsnGlyGlyCysThrAlaSerValSerLysSerAlaTrpThrMetGluAlaLeuProGluAsnMetAspSerProThrLeuGlnValThrGlySerGluSerIleGluIleThrTrpLysProProArgAsnProAsnGlyGlnIleArgSerTyrGluLeuArgArgAspGlyThrIleValTyrThrGlyLeuGluThrArgTyrArgAspPheThrLeuThrProGlyValGluTyrSerTyrThrValThrAlaSerAsnSerGlnGlyGlyIleLeuSerProLeuValLysAspArgThrSerProSerAlaProSerGlyMetGluProProLysLeuGlnAlaArgGlyProGlnGluIleLeuValAsnTrpAspProProValArgThrAsnGlyAspIleIleAsnTyrThrLeuPheIleArgGluLeuPheGluArgGluThrLysIleIleHisIleAsnThrThrHisAsnSerPheGlyMetGlnSerTyrIleValAsnGlnLeuLysProPheHisArgTyrGluIleArgIleGlnAlaCysThrThrLeuGlyCysAlaSerSerAspTrpThrPheIleGlnThrProGluIleAlaProLeuMetGlnProProProHisLeuGluValGlnMetAlaProGlyGlyPheGlnProThrValSerLeuLeuTrpThrGlyProLeuGlnProAsnGlyLysValLeuTyrTyrGluLeuTyrArgArgGlnIleAlaThrGlnProArgLysSerAsnProValLeuIleTyrAsnGlySerSerThrSerPheIleAspSerGluLeuLeuProPheThrGluTyrGluTyrGlnValTrpAlaValAsnSerAlaGlyLysAlaProSerSerTrpThrTrpCysArgThrGlyProAlaProProGluGlyLeuArgAlaProThrPheHisValIleSerSerThrGlnAlaValValAsnIleSerAlaProGlyLysProAsnGlyIleValSerLeuTyrArgLeuPheSerSerSerAlaHisGlyAlaGluThrValLeuSerGluGlyMetAlaThrGlnGlnThrLeuHisGlyLeuGlnAlaPheThrAsnTyrSerIleGlyValGluAlaCysThrCysPheAsnCysCysSerLysGlyProThrAlaGluLeuArgThrHisProAlaProProSerGlyLeuSerSerProGlnIleGlyThrLeuAlaSerArgThrAlaSerPheArgTrpSerProProMetPheProAsnGlyValIleHisSerTyrGluLeuGlnPheHisValAlaCysProProAspSerAlaLeuProCysThrProSerGlnIleGluThrLysTyrThrGlyLeuGlyGlnLysAlaSerLeuGlyGlyLeuGlnProTyrThrThrTyrLysLeuArgValValAlaHisAsnGluValGlySerThrAlaSerGluTrpIleSerPheThrThrGlnLysGluLeuProGlnTyrArgAlaProPheSerValAspSerAsnLeuSerValValCysValAsnTrpSerAspThrPheLeuLeuAsnGlyGlnLeuLysGluTyrValLeuThrAspGlyGlyArgArgValTyrSerGlyLeuAspThrThrLeuTyrIleProArgThrAlaAspLysThrPhePhePheGlnValIleCysThrThrAspGluGlySerValLysThrProLeuIleGlnTyrAspThrSerThrGlyLeuGlyLeuValLeuThrThrProGlyLysLysLysGlySerArgSerLysSerThrGluPheTyrSerGluLeuTrpPheIleValLeuMetAlaMetLeuGlyLeuIleLeuLeuAlaIlePheLeuSerLeuIleLeuGlnArgLysIleHisLysGluProTyrIleArgGluArgProProLeuValProLeuGlnLysArgMetSerProLeuAsnValTyrProProGlyGluAsnHisMetGlyLeuAlaAspThrLysIleProArgSerGlyThrProValSerIleArgSerAsnArgSerAlaCysValLeuArgIleProSerGlnAsnGlnThrSerLeuThrTyrSerGlnGlySerLeuHisArgSerValSerGlnLeuMetAspIleGlnAspLysLysValLeuMetAspAsnSerLeuTrpGluAlaIleMetGlyHisAsnSerGlyLeuTyrValAspGluGluAspLeuMetAsnAlaIleLysAspPheSerSerValThrLysGluArgThrThrPheThrAspThrHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045339"
    },
    {
      "@id": "http://reg.genome.network/allele/PA262085",
      "coordinates": [
        {
          "allele": "G",
          "end": 13569,
          "referenceAllele": "C",
          "start": 13568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_206933.3:c.13130C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_996816.2:p.Ser4377Ter",
        "hgvsWellDefined": "NP_996816.2:p.Ser4377_Leu5202delinsProProThrValGlnAsnGlyLysIleThrLysTyrLeuValArgTyrAspAsnLysGluSerLeuAlaGlyGlnGlyLeuCysLeuLeuValSerHisLeuGlnProTyrSerGlnTyrAsnPheSerLeuValAlaCysThrAsnGlyGlyCysThrAlaSerValSerLysSerAlaTrpThrMetGluAlaLeuProGluAsnMetAspSerProThrLeuGlnValThrGlySerGluSerIleGluIleThrTrpLysProProArgAsnProAsnGlyGlnIleArgSerTyrGluLeuArgArgAspGlyThrIleValTyrThrGlyLeuGluThrArgTyrArgAspPheThrLeuThrProGlyValGluTyrSerTyrThrValThrAlaSerAsnSerGlnGlyGlyIleLeuSerProLeuValLysAspArgThrSerProSerAlaProSerGlyMetGluProProLysLeuGlnAlaArgGlyProGlnGluIleLeuValAsnTrpAspProProValArgThrAsnGlyAspIleIleAsnTyrThrLeuPheIleArgGluLeuPheGluArgGluThrLysIleIleHisIleAsnThrThrHisAsnSerPheGlyMetGlnSerTyrIleValAsnGlnLeuLysProPheHisArgTyrGluIleArgIleGlnAlaCysThrThrLeuGlyCysAlaSerSerAspTrpThrPheIleGlnThrProGluIleAlaProLeuMetGlnProProProHisLeuGluValGlnMetAlaProGlyGlyPheGlnProThrValSerLeuLeuTrpThrGlyProLeuGlnProAsnGlyLysValLeuTyrTyrGluLeuTyrArgArgGlnIleAlaThrGlnProArgLysSerAsnProValLeuIleTyrAsnGlySerSerThrSerPheIleAspSerGluLeuLeuProPheThrGluTyrGluTyrGlnValTrpAlaValAsnSerAlaGlyLysAlaProSerSerTrpThrTrpCysArgThrGlyProAlaProProGluGlyLeuArgAlaProThrPheHisValIleSerSerThrGlnAlaValValAsnIleSerAlaProGlyLysProAsnGlyIleValSerLeuTyrArgLeuPheSerSerSerAlaHisGlyAlaGluThrValLeuSerGluGlyMetAlaThrGlnGlnThrLeuHisGlyLeuGlnAlaPheThrAsnTyrSerIleGlyValGluAlaCysThrCysPheAsnCysCysSerLysGlyProThrAlaGluLeuArgThrHisProAlaProProSerGlyLeuSerSerProGlnIleGlyThrLeuAlaSerArgThrAlaSerPheArgTrpSerProProMetPheProAsnGlyValIleHisSerTyrGluLeuGlnPheHisValAlaCysProProAspSerAlaLeuProCysThrProSerGlnIleGluThrLysTyrThrGlyLeuGlyGlnLysAlaSerLeuGlyGlyLeuGlnProTyrThrThrTyrLysLeuArgValValAlaHisAsnGluValGlySerThrAlaSerGluTrpIleSerPheThrThrGlnLysGluLeuProGlnTyrArgAlaProPheSerValAspSerAsnLeuSerValValCysValAsnTrpSerAspThrPheLeuLeuAsnGlyGlnLeuLysGluTyrValLeuThrAspGlyGlyArgArgValTyrSerGlyLeuAspThrThrLeuTyrIleProArgThrAlaAspLysThrPhePhePheGlnValIleCysThrThrAspGluGlySerValLysThrProLeuIleGlnTyrAspThrSerThrGlyLeuGlyLeuValLeuThrThrProGlyLysLysLysGlySerArgSerLysSerThrGluPheTyrSerGluLeuTrpPheIleValLeuMetAlaMetLeuGlyLeuIleLeuLeuAlaIlePheLeuSerLeuIleLeuGlnArgLysIleHisLysGluProTyrIleArgGluArgProProLeuValProLeuGlnLysArgMetSerProLeuAsnValTyrProProGlyGluAsnHisMetGlyLeuAlaAspThrLysIleProArgSerGlyThrProValSerIleArgSerAsnArgSerAlaCysValLeuArgIleProSerGlnAsnGlnThrSerLeuThrTyrSerGlnGlySerLeuHisArgSerValSerGlnLeuMetAspIleGlnAspLysLysValLeuMetAspAsnSerLeuTrpGluAlaIleMetGlyHisAsnSerGlyLeuTyrValAspGluGluAspLeuMetAsnAlaIleLysAspPheSerSerValThrLysGluArgThrThrPheThrAspThrHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673266"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139764977",
      "coordinates": [
        {
          "allele": "G",
          "end": 13569,
          "referenceAllele": "C",
          "start": 13568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_206933.4:c.13130C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_996816.3:p.Ser4377Ter",
        "hgvsWellDefined": "NP_996816.3:p.Ser4377_Leu5202delinsProProThrValGlnAsnGlyLysIleThrLysTyrLeuValArgTyrAspAsnLysGluSerLeuAlaGlyGlnGlyLeuCysLeuLeuValSerHisLeuGlnProTyrSerGlnTyrAsnPheSerLeuValAlaCysThrAsnGlyGlyCysThrAlaSerValSerLysSerAlaTrpThrMetGluAlaLeuProGluAsnMetAspSerProThrLeuGlnValThrGlySerGluSerIleGluIleThrTrpLysProProArgAsnProAsnGlyGlnIleArgSerTyrGluLeuArgArgAspGlyThrIleValTyrThrGlyLeuGluThrArgTyrArgAspPheThrLeuThrProGlyValGluTyrSerTyrThrValThrAlaSerAsnSerGlnGlyGlyIleLeuSerProLeuValLysAspArgThrSerProSerAlaProSerGlyMetGluProProLysLeuGlnAlaArgGlyProGlnGluIleLeuValAsnTrpAspProProValArgThrAsnGlyAspIleIleAsnTyrThrLeuPheIleArgGluLeuPheGluArgGluThrLysIleIleHisIleAsnThrThrHisAsnSerPheGlyMetGlnSerTyrIleValAsnGlnLeuLysProPheHisArgTyrGluIleArgIleGlnAlaCysThrThrLeuGlyCysAlaSerSerAspTrpThrPheIleGlnThrProGluIleAlaProLeuMetGlnProProProHisLeuGluValGlnMetAlaProGlyGlyPheGlnProThrValSerLeuLeuTrpThrGlyProLeuGlnProAsnGlyLysValLeuTyrTyrGluLeuTyrArgArgGlnIleAlaThrGlnProArgLysSerAsnProValLeuIleTyrAsnGlySerSerThrSerPheIleAspSerGluLeuLeuProPheThrGluTyrGluTyrGlnValTrpAlaValAsnSerAlaGlyLysAlaProSerSerTrpThrTrpCysArgThrGlyProAlaProProGluGlyLeuArgAlaProThrPheHisValIleSerSerThrGlnAlaValValAsnIleSerAlaProGlyLysProAsnGlyIleValSerLeuTyrArgLeuPheSerSerSerAlaHisGlyAlaGluThrValLeuSerGluGlyMetAlaThrGlnGlnThrLeuHisGlyLeuGlnAlaPheThrAsnTyrSerIleGlyValGluAlaCysThrCysPheAsnCysCysSerLysGlyProThrAlaGluLeuArgThrHisProAlaProProSerGlyLeuSerSerProGlnIleGlyThrLeuAlaSerArgThrAlaSerPheArgTrpSerProProMetPheProAsnGlyValIleHisSerTyrGluLeuGlnPheHisValAlaCysProProAspSerAlaLeuProCysThrProSerGlnIleGluThrLysTyrThrGlyLeuGlyGlnLysAlaSerLeuGlyGlyLeuGlnProTyrThrThrTyrLysLeuArgValValAlaHisAsnGluValGlySerThrAlaSerGluTrpIleSerPheThrThrGlnLysGluLeuProGlnTyrArgAlaProPheSerValAspSerAsnLeuSerValValCysValAsnTrpSerAspThrPheLeuLeuAsnGlyGlnLeuLysGluTyrValLeuThrAspGlyGlyArgArgValTyrSerGlyLeuAspThrThrLeuTyrIleProArgThrAlaAspLysThrPhePhePheGlnValIleCysThrThrAspGluGlySerValLysThrProLeuIleGlnTyrAspThrSerThrGlyLeuGlyLeuValLeuThrThrProGlyLysLysLysGlySerArgSerLysSerThrGluPheTyrSerGluLeuTrpPheIleValLeuMetAlaMetLeuGlyLeuIleLeuLeuAlaIlePheLeuSerLeuIleLeuGlnArgLysIleHisLysGluProTyrIleArgGluArgProProLeuValProLeuGlnLysArgMetSerProLeuAsnValTyrProProGlyGluAsnHisMetGlyLeuAlaAspThrLysIleProArgSerGlyThrProValSerIleArgSerAsnArgSerAlaCysValLeuArgIleProSerGlnAsnGlnThrSerLeuThrTyrSerGlnGlySerLeuHisArgSerValSerGlnLeuMetAspIleGlnAspLysLysValLeuMetAspAsnSerLeuTrpGluAlaIleMetGlyHisAsnSerGlyLeuTyrValAspGluGluAspLeuMetAsnAlaIleLysAspPheSerSerValThrLysGluArgThrThrPheThrAspThrHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307340.8:c.13130C>G"
          },
          "RefSeq": {
            "hgvs": "NM_206933.4:c.13130C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305941.3:p.Ser4377Ter"
          },
          "RefSeq": {
            "hgvs": "NP_996816.3:p.Ser4377Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}