{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA262082",
  "communityStandardTitle": [
    "NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=57570[alleleid]",
        "alleleId": 57570,
        "preferredName": "NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/48408",
        "RCV": [
          "RCV000041731",
          "RCV000670430",
          "RCV000819445",
          "RCV001074436",
          "RCV003450770",
          "RCV003450771"
        ],
        "variationId": 48408
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.215848385G>A?assembly=hg19",
        "id": "chr1:g.215848385G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.215675043G>A?assembly=hg38",
        "id": "chr1:g.215675043G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397517983",
        "rs": 397517983
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-215675043-G-A?dataset=gnomad_r4",
        "id": "1-215675043-G-A",
        "variant": "1:215675043 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 215675043,
          "referenceAllele": "G",
          "start": 215675042
        }
      ],
      "hgvs": [
        "NC_000001.11:g.215675043G>A",
        "CM000663.2:g.215675043G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 215848385,
          "referenceAllele": "G",
          "start": 215848384
        }
      ],
      "hgvs": [
        "NC_000001.10:g.215848385G>A",
        "CM000663.1:g.215848385G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 213915008,
          "referenceAllele": "G",
          "start": 213915007
        }
      ],
      "hgvs": [
        "NC_000001.9:g.213915008G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 753354,
          "referenceAllele": "C",
          "start": 753353
        }
      ],
      "hgvs": [
        "NG_009497.1:g.753354C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001602"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 753406,
          "referenceAllele": "C",
          "start": 753405
        }
      ],
      "hgvs": [
        "NG_009497.2:g.753406C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706096"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13307,
          "referenceAllele": "C",
          "start": 13306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000307340.8:c.12868C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305941.3:p.Gln4290Ter",
        "hgvsWellDefined": "ENSP00000305941.3:p.Gln4290_Leu5202delinsSerAsnGlyIleIleGlnSerTyrArgLeuGlnArgAsnGluMetLeuTyrProPheSerPheAspProValThrPheAsnTyrThrAspGluGluLeuLeuProPheSerThrTyrSerTyrAlaLeuGlnAlaCysThrSerGlyGlyCysSerThrSerLysProThrSerIleThrThrLeuGluAlaAlaProSerGluValSerProProAspLeuTrpAlaValSerAlaThrGlnMetAsnValCysTrpSerProProThrValGlnAsnGlyLysIleThrLysTyrLeuValArgTyrAspAsnLysGluSerLeuAlaGlyGlnGlyLeuCysLeuLeuValSerHisLeuGlnProTyrSerGlnTyrAsnPheSerLeuValAlaCysThrAsnGlyGlyCysThrAlaSerValSerLysSerAlaTrpThrMetGluAlaLeuProGluAsnMetAspSerProThrLeuGlnValThrGlySerGluSerIleGluIleThrTrpLysProProArgAsnProAsnGlyGlnIleArgSerTyrGluLeuArgArgAspGlyThrIleValTyrThrGlyLeuGluThrArgTyrArgAspPheThrLeuThrProGlyValGluTyrSerTyrThrValThrAlaSerAsnSerGlnGlyGlyIleLeuSerProLeuValLysAspArgThrSerProSerAlaProSerGlyMetGluProProLysLeuGlnAlaArgGlyProGlnGluIleLeuValAsnTrpAspProProValArgThrAsnGlyAspIleIleAsnTyrThrLeuPheIleArgGluLeuPheGluArgGluThrLysIleIleHisIleAsnThrThrHisAsnSerPheGlyMetGlnSerTyrIleValAsnGlnLeuLysProPheHisArgTyrGluIleArgIleGlnAlaCysThrThrLeuGlyCysAlaSerSerAspTrpThrPheIleGlnThrProGluIleAlaProLeuMetGlnProProProHisLeuGluValGlnMetAlaProGlyGlyPheGlnProThrValSerLeuLeuTrpThrGlyProLeuGlnProAsnGlyLysValLeuTyrTyrGluLeuTyrArgArgGlnIleAlaThrGlnProArgLysSerAsnProValLeuIleTyrAsnGlySerSerThrSerPheIleAspSerGluLeuLeuProPheThrGluTyrGluTyrGlnValTrpAlaValAsnSerAlaGlyLysAlaProSerSerTrpThrTrpCysArgThrGlyProAlaProProGluGlyLeuArgAlaProThrPheHisValIleSerSerThrGlnAlaValValAsnIleSerAlaProGlyLysProAsnGlyIleValSerLeuTyrArgLeuPheSerSerSerAlaHisGlyAlaGluThrValLeuSerGluGlyMetAlaThrGlnGlnThrLeuHisGlyLeuGlnAlaPheThrAsnTyrSerIleGlyValGluAlaCysThrCysPheAsnCysCysSerLysGlyProThrAlaGluLeuArgThrHisProAlaProProSerGlyLeuSerSerProGlnIleGlyThrLeuAlaSerArgThrAlaSerPheArgTrpSerProProMetPheProAsnGlyValIleHisSerTyrGluLeuGlnPheHisValAlaCysProProAspSerAlaLeuProCysThrProSerGlnIleGluThrLysTyrThrGlyLeuGlyGlnLysAlaSerLeuGlyGlyLeuGlnProTyrThrThrTyrLysLeuArgValValAlaHisAsnGluValGlySerThrAlaSerGluTrpIleSerPheThrThrGlnLysGluLeuProGlnTyrArgAlaProPheSerValAspSerAsnLeuSerValValCysValAsnTrpSerAspThrPheLeuLeuAsnGlyGlnLeuLysGluTyrValLeuThrAspGlyGlyArgArgValTyrSerGlyLeuAspThrThrLeuTyrIleProArgThrAlaAspLysThrPhePhePheGlnValIleCysThrThrAspGluGlySerValLysThrProLeuIleGlnTyrAspThrSerThrGlyLeuGlyLeuValLeuThrThrProGlyLysLysLysGlySerArgSerLysSerThrGluPheTyrSerGluLeuTrpPheIleValLeuMetAlaMetLeuGlyLeuIleLeuLeuAlaIlePheLeuSerLeuIleLeuGlnArgLysIleHisLysGluProTyrIleArgGluArgProProLeuValProLeuGlnLysArgMetSerProLeuAsnValTyrProProGlyGluAsnHisMetGlyLeuAlaAspThrLysIleProArgSerGlyThrProValSerIleArgSerAsnArgSerAlaCysValLeuArgIleProSerGlnAsnGlnThrSerLeuThrTyrSerGlnGlySerLeuHisArgSerValSerGlnLeuMetAspIleGlnAspLysLysValLeuMetAspAsnSerLeuTrpGluAlaIleMetGlyHisAsnSerGlyLeuTyrValAspGluGluAspLeuMetAsnAlaIleLysAspPheSerSerValThrLysGluArgThrThrPheThrAspThrHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745360",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307340.8:c.12868C>T"
          },
          "RefSeq": {
            "hgvs": "NM_206933.4:c.12868C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305941.3:p.Gln4290Ter"
          },
          "RefSeq": {
            "hgvs": "NP_996816.3:p.Gln4290Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13307,
          "referenceAllele": "C",
          "start": 13306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000674083.1:c.12868C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501296.1:p.Gln4290Ter",
        "hgvsWellDefined": "ENSP00000501296.1:p.Gln4290_Leu5226delinsSerAsnGlyIleIleGlnSerTyrArgLeuGlnArgAsnGluMetLeuTyrProPheSerPheAspProValThrPheAsnTyrThrAspGluGluLeuLeuProPheSerThrTyrSerTyrAlaLeuGlnAlaCysThrSerGlyGlyCysSerThrSerLysProThrSerIleThrThrLeuGluAlaAlaProSerGluValSerProProAspLeuTrpAlaValSerAlaThrGlnMetAsnValCysTrpSerProProThrValGlnAsnGlyLysIleThrLysTyrLeuValArgTyrAspAsnLysGluSerLeuAlaGlyGlnGlyLeuCysLeuLeuValSerHisLeuGlnProTyrSerGlnTyrAsnPheSerLeuValAlaCysThrAsnGlyGlyCysThrAlaSerValSerLysSerAlaTrpThrMetGluAlaLeuProGluAsnMetAspSerProThrLeuGlnValThrGlySerGluSerIleGluIleThrTrpLysProProArgAsnProAsnGlyGlnIleArgSerTyrGluLeuArgArgAspGlyThrIleValTyrThrGlyLeuGluThrArgTyrArgAspPheThrLeuThrProGlyValGluTyrSerTyrThrValThrAlaSerAsnSerGlnGlyGlyIleLeuSerProLeuValLysAspArgThrSerProSerAlaProSerGlyMetGluProProLysLeuGlnAlaArgGlyProGlnGluIleLeuValAsnTrpAspProProValArgThrAsnGlyAspIleIleAsnTyrThrLeuPheIleArgGluLeuPheGluArgGluThrLysIleIleHisIleAsnThrThrHisAsnSerPheGlyMetGlnSerTyrIleValAsnGlnLeuLysProPheHisArgTyrGluIleArgIleGlnAlaCysThrThrLeuGlyCysAlaSerSerAspTrpThrPheIleGlnThrProGluIleAlaProLeuMetGlnProProProHisLeuGluValGlnMetAlaProGlyGlyPheGlnProThrValSerLeuLeuTrpThrGlyProLeuGlnProAsnGlyLysValLeuTyrTyrGluLeuTyrArgArgGlnIleAlaThrGlnProArgLysSerAsnProValLeuIleTyrAsnGlySerSerThrSerPheIleAspSerGluLeuLeuProPheThrGluTyrGluTyrGlnValTrpAlaValAsnSerAlaGlyLysAlaProSerSerTrpThrTrpCysArgThrGlyProAlaProProGluGlyLeuArgAlaProThrPheHisValIleSerSerThrGlnAlaValValAsnIleSerAlaProGlyLysProAsnGlyIleValSerLeuTyrArgLeuPheSerSerSerAlaHisGlyAlaGluThrValLeuSerGluGlyMetAlaThrGlnGlnThrLeuHisGlyLeuGlnAlaPheThrAsnTyrSerIleGlyValGluAlaCysThrCysPheAsnCysCysSerLysGlyProThrAlaGluLeuArgThrHisProAlaProProSerGlyLeuSerSerProGlnIleGlyThrLeuAlaSerArgThrAlaSerPheArgTrpSerProProMetPheProAsnGlyValIleHisSerTyrGluLeuGlnPheHisValAlaCysProProAspSerAlaLeuProCysThrProSerGlnIleGluThrLysTyrThrGlyLeuGlyGlnLysAlaSerLeuGlyGlyLeuGlnProTyrThrThrTyrLysLeuArgValValAlaHisAsnGluValGlySerThrAlaSerGluTrpIleSerPheThrThrGlnLysGluLeuProGlnTyrArgAlaProPheSerValAspSerAsnLeuSerValValCysValAsnTrpSerAspThrPheLeuLeuAsnGlyGlnLeuLysGluTyrValLeuThrAspGlyGlyArgArgValTyrSerGlyLeuAspThrThrLeuTyrIleProArgThrAlaAspLysThrPhePhePheGlnValIleCysThrThrAspGluGlySerValLysThrProLeuIleGlnTyrAspThrSerThrGlyLeuGlyLeuValLeuThrThrProGlyLysLysLysGlySerArgSerLysSerThrGluPheTyrSerGluLeuTrpPheIleValLeuMetAlaMetLeuGlyLeuIleLeuLeuAlaIlePheLeuSerLeuIleLeuGlnArgLysIleHisLysGluProTyrIleArgGluArgProProLeuValProLeuGlnLysArgMetSerProLeuAsnValTyrProProGlyGluAsnHisMetPheAspSerValAlaAspIleSerAspValSerSerAsnValThrLeuLysSerTyrThrMetHisPheGluGlyLeuAlaAspThrLysIleProArgSerGlyThrProValSerIleArgSerAsnArgSerAlaCysValLeuArgIleProSerGlnAsnGlnThrSerLeuThrTyrSerGlnGlySerLeuHisArgSerValSerGlnLeuMetAspIleGlnAspLysLysValLeuMetAspAsnSerLeuTrpGluAlaIleMetGlyHisAsnSerGlyLeuTyrValAspGluGluAspLeuMetAsnAlaIleLysAspPheSerSerValThrLysGluArgThrThrPheThrAspThrHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774106"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13255,
          "referenceAllele": "C",
          "start": 13254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000307340.7:c.12868C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305941.3:p.Gln4290Ter",
        "hgvsWellDefined": "ENSP00000305941.3:p.Gln4290_Leu5202delinsSerAsnGlyIleIleGlnSerTyrArgLeuGlnArgAsnGluMetLeuTyrProPheSerPheAspProValThrPheAsnTyrThrAspGluGluLeuLeuProPheSerThrTyrSerTyrAlaLeuGlnAlaCysThrSerGlyGlyCysSerThrSerLysProThrSerIleThrThrLeuGluAlaAlaProSerGluValSerProProAspLeuTrpAlaValSerAlaThrGlnMetAsnValCysTrpSerProProThrValGlnAsnGlyLysIleThrLysTyrLeuValArgTyrAspAsnLysGluSerLeuAlaGlyGlnGlyLeuCysLeuLeuValSerHisLeuGlnProTyrSerGlnTyrAsnPheSerLeuValAlaCysThrAsnGlyGlyCysThrAlaSerValSerLysSerAlaTrpThrMetGluAlaLeuProGluAsnMetAspSerProThrLeuGlnValThrGlySerGluSerIleGluIleThrTrpLysProProArgAsnProAsnGlyGlnIleArgSerTyrGluLeuArgArgAspGlyThrIleValTyrThrGlyLeuGluThrArgTyrArgAspPheThrLeuThrProGlyValGluTyrSerTyrThrValThrAlaSerAsnSerGlnGlyGlyIleLeuSerProLeuValLysAspArgThrSerProSerAlaProSerGlyMetGluProProLysLeuGlnAlaArgGlyProGlnGluIleLeuValAsnTrpAspProProValArgThrAsnGlyAspIleIleAsnTyrThrLeuPheIleArgGluLeuPheGluArgGluThrLysIleIleHisIleAsnThrThrHisAsnSerPheGlyMetGlnSerTyrIleValAsnGlnLeuLysProPheHisArgTyrGluIleArgIleGlnAlaCysThrThrLeuGlyCysAlaSerSerAspTrpThrPheIleGlnThrProGluIleAlaProLeuMetGlnProProProHisLeuGluValGlnMetAlaProGlyGlyPheGlnProThrValSerLeuLeuTrpThrGlyProLeuGlnProAsnGlyLysValLeuTyrTyrGluLeuTyrArgArgGlnIleAlaThrGlnProArgLysSerAsnProValLeuIleTyrAsnGlySerSerThrSerPheIleAspSerGluLeuLeuProPheThrGluTyrGluTyrGlnValTrpAlaValAsnSerAlaGlyLysAlaProSerSerTrpThrTrpCysArgThrGlyProAlaProProGluGlyLeuArgAlaProThrPheHisValIleSerSerThrGlnAlaValValAsnIleSerAlaProGlyLysProAsnGlyIleValSerLeuTyrArgLeuPheSerSerSerAlaHisGlyAlaGluThrValLeuSerGluGlyMetAlaThrGlnGlnThrLeuHisGlyLeuGlnAlaPheThrAsnTyrSerIleGlyValGluAlaCysThrCysPheAsnCysCysSerLysGlyProThrAlaGluLeuArgThrHisProAlaProProSerGlyLeuSerSerProGlnIleGlyThrLeuAlaSerArgThrAlaSerPheArgTrpSerProProMetPheProAsnGlyValIleHisSerTyrGluLeuGlnPheHisValAlaCysProProAspSerAlaLeuProCysThrProSerGlnIleGluThrLysTyrThrGlyLeuGlyGlnLysAlaSerLeuGlyGlyLeuGlnProTyrThrThrTyrLysLeuArgValValAlaHisAsnGluValGlySerThrAlaSerGluTrpIleSerPheThrThrGlnLysGluLeuProGlnTyrArgAlaProPheSerValAspSerAsnLeuSerValValCysValAsnTrpSerAspThrPheLeuLeuAsnGlyGlnLeuLysGluTyrValLeuThrAspGlyGlyArgArgValTyrSerGlyLeuAspThrThrLeuTyrIleProArgThrAlaAspLysThrPhePhePheGlnValIleCysThrThrAspGluGlySerValLysThrProLeuIleGlnTyrAspThrSerThrGlyLeuGlyLeuValLeuThrThrProGlyLysLysLysGlySerArgSerLysSerThrGluPheTyrSerGluLeuTrpPheIleValLeuMetAlaMetLeuGlyLeuIleLeuLeuAlaIlePheLeuSerLeuIleLeuGlnArgLysIleHisLysGluProTyrIleArgGluArgProProLeuValProLeuGlnLysArgMetSerProLeuAsnValTyrProProGlyGluAsnHisMetGlyLeuAlaAspThrLysIleProArgSerGlyThrProValSerIleArgSerAsnArgSerAlaCysValLeuArgIleProSerGlnAsnGlnThrSerLeuThrTyrSerGlnGlySerLeuHisArgSerValSerGlnLeuMetAspIleGlnAspLysLysValLeuMetAspAsnSerLeuTrpGluAlaIleMetGlyHisAsnSerGlyLeuTyrValAspGluGluAspLeuMetAsnAlaIleLysAspPheSerSerValThrLysGluArgThrThrPheThrAspThrHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255872"
    },
    {
      "@id": "http://reg.genome.network/allele/PA262083",
      "coordinates": [
        {
          "allele": "T",
          "end": 13255,
          "referenceAllele": "C",
          "start": 13254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_206933.2:c.12868C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_996816.2:p.Gln4290Ter",
        "hgvsWellDefined": "NP_996816.2:p.Gln4290_Leu5202delinsSerAsnGlyIleIleGlnSerTyrArgLeuGlnArgAsnGluMetLeuTyrProPheSerPheAspProValThrPheAsnTyrThrAspGluGluLeuLeuProPheSerThrTyrSerTyrAlaLeuGlnAlaCysThrSerGlyGlyCysSerThrSerLysProThrSerIleThrThrLeuGluAlaAlaProSerGluValSerProProAspLeuTrpAlaValSerAlaThrGlnMetAsnValCysTrpSerProProThrValGlnAsnGlyLysIleThrLysTyrLeuValArgTyrAspAsnLysGluSerLeuAlaGlyGlnGlyLeuCysLeuLeuValSerHisLeuGlnProTyrSerGlnTyrAsnPheSerLeuValAlaCysThrAsnGlyGlyCysThrAlaSerValSerLysSerAlaTrpThrMetGluAlaLeuProGluAsnMetAspSerProThrLeuGlnValThrGlySerGluSerIleGluIleThrTrpLysProProArgAsnProAsnGlyGlnIleArgSerTyrGluLeuArgArgAspGlyThrIleValTyrThrGlyLeuGluThrArgTyrArgAspPheThrLeuThrProGlyValGluTyrSerTyrThrValThrAlaSerAsnSerGlnGlyGlyIleLeuSerProLeuValLysAspArgThrSerProSerAlaProSerGlyMetGluProProLysLeuGlnAlaArgGlyProGlnGluIleLeuValAsnTrpAspProProValArgThrAsnGlyAspIleIleAsnTyrThrLeuPheIleArgGluLeuPheGluArgGluThrLysIleIleHisIleAsnThrThrHisAsnSerPheGlyMetGlnSerTyrIleValAsnGlnLeuLysProPheHisArgTyrGluIleArgIleGlnAlaCysThrThrLeuGlyCysAlaSerSerAspTrpThrPheIleGlnThrProGluIleAlaProLeuMetGlnProProProHisLeuGluValGlnMetAlaProGlyGlyPheGlnProThrValSerLeuLeuTrpThrGlyProLeuGlnProAsnGlyLysValLeuTyrTyrGluLeuTyrArgArgGlnIleAlaThrGlnProArgLysSerAsnProValLeuIleTyrAsnGlySerSerThrSerPheIleAspSerGluLeuLeuProPheThrGluTyrGluTyrGlnValTrpAlaValAsnSerAlaGlyLysAlaProSerSerTrpThrTrpCysArgThrGlyProAlaProProGluGlyLeuArgAlaProThrPheHisValIleSerSerThrGlnAlaValValAsnIleSerAlaProGlyLysProAsnGlyIleValSerLeuTyrArgLeuPheSerSerSerAlaHisGlyAlaGluThrValLeuSerGluGlyMetAlaThrGlnGlnThrLeuHisGlyLeuGlnAlaPheThrAsnTyrSerIleGlyValGluAlaCysThrCysPheAsnCysCysSerLysGlyProThrAlaGluLeuArgThrHisProAlaProProSerGlyLeuSerSerProGlnIleGlyThrLeuAlaSerArgThrAlaSerPheArgTrpSerProProMetPheProAsnGlyValIleHisSerTyrGluLeuGlnPheHisValAlaCysProProAspSerAlaLeuProCysThrProSerGlnIleGluThrLysTyrThrGlyLeuGlyGlnLysAlaSerLeuGlyGlyLeuGlnProTyrThrThrTyrLysLeuArgValValAlaHisAsnGluValGlySerThrAlaSerGluTrpIleSerPheThrThrGlnLysGluLeuProGlnTyrArgAlaProPheSerValAspSerAsnLeuSerValValCysValAsnTrpSerAspThrPheLeuLeuAsnGlyGlnLeuLysGluTyrValLeuThrAspGlyGlyArgArgValTyrSerGlyLeuAspThrThrLeuTyrIleProArgThrAlaAspLysThrPhePhePheGlnValIleCysThrThrAspGluGlySerValLysThrProLeuIleGlnTyrAspThrSerThrGlyLeuGlyLeuValLeuThrThrProGlyLysLysLysGlySerArgSerLysSerThrGluPheTyrSerGluLeuTrpPheIleValLeuMetAlaMetLeuGlyLeuIleLeuLeuAlaIlePheLeuSerLeuIleLeuGlnArgLysIleHisLysGluProTyrIleArgGluArgProProLeuValProLeuGlnLysArgMetSerProLeuAsnValTyrProProGlyGluAsnHisMetGlyLeuAlaAspThrLysIleProArgSerGlyThrProValSerIleArgSerAsnArgSerAlaCysValLeuArgIleProSerGlnAsnGlnThrSerLeuThrTyrSerGlnGlySerLeuHisArgSerValSerGlnLeuMetAspIleGlnAspLysLysValLeuMetAspAsnSerLeuTrpGluAlaIleMetGlyHisAsnSerGlyLeuTyrValAspGluGluAspLeuMetAsnAlaIleLysAspPheSerSerValThrLysGluArgThrThrPheThrAspThrHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045339"
    },
    {
      "@id": "http://reg.genome.network/allele/PA262083",
      "coordinates": [
        {
          "allele": "T",
          "end": 13307,
          "referenceAllele": "C",
          "start": 13306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_206933.3:c.12868C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_996816.2:p.Gln4290Ter",
        "hgvsWellDefined": "NP_996816.2:p.Gln4290_Leu5202delinsSerAsnGlyIleIleGlnSerTyrArgLeuGlnArgAsnGluMetLeuTyrProPheSerPheAspProValThrPheAsnTyrThrAspGluGluLeuLeuProPheSerThrTyrSerTyrAlaLeuGlnAlaCysThrSerGlyGlyCysSerThrSerLysProThrSerIleThrThrLeuGluAlaAlaProSerGluValSerProProAspLeuTrpAlaValSerAlaThrGlnMetAsnValCysTrpSerProProThrValGlnAsnGlyLysIleThrLysTyrLeuValArgTyrAspAsnLysGluSerLeuAlaGlyGlnGlyLeuCysLeuLeuValSerHisLeuGlnProTyrSerGlnTyrAsnPheSerLeuValAlaCysThrAsnGlyGlyCysThrAlaSerValSerLysSerAlaTrpThrMetGluAlaLeuProGluAsnMetAspSerProThrLeuGlnValThrGlySerGluSerIleGluIleThrTrpLysProProArgAsnProAsnGlyGlnIleArgSerTyrGluLeuArgArgAspGlyThrIleValTyrThrGlyLeuGluThrArgTyrArgAspPheThrLeuThrProGlyValGluTyrSerTyrThrValThrAlaSerAsnSerGlnGlyGlyIleLeuSerProLeuValLysAspArgThrSerProSerAlaProSerGlyMetGluProProLysLeuGlnAlaArgGlyProGlnGluIleLeuValAsnTrpAspProProValArgThrAsnGlyAspIleIleAsnTyrThrLeuPheIleArgGluLeuPheGluArgGluThrLysIleIleHisIleAsnThrThrHisAsnSerPheGlyMetGlnSerTyrIleValAsnGlnLeuLysProPheHisArgTyrGluIleArgIleGlnAlaCysThrThrLeuGlyCysAlaSerSerAspTrpThrPheIleGlnThrProGluIleAlaProLeuMetGlnProProProHisLeuGluValGlnMetAlaProGlyGlyPheGlnProThrValSerLeuLeuTrpThrGlyProLeuGlnProAsnGlyLysValLeuTyrTyrGluLeuTyrArgArgGlnIleAlaThrGlnProArgLysSerAsnProValLeuIleTyrAsnGlySerSerThrSerPheIleAspSerGluLeuLeuProPheThrGluTyrGluTyrGlnValTrpAlaValAsnSerAlaGlyLysAlaProSerSerTrpThrTrpCysArgThrGlyProAlaProProGluGlyLeuArgAlaProThrPheHisValIleSerSerThrGlnAlaValValAsnIleSerAlaProGlyLysProAsnGlyIleValSerLeuTyrArgLeuPheSerSerSerAlaHisGlyAlaGluThrValLeuSerGluGlyMetAlaThrGlnGlnThrLeuHisGlyLeuGlnAlaPheThrAsnTyrSerIleGlyValGluAlaCysThrCysPheAsnCysCysSerLysGlyProThrAlaGluLeuArgThrHisProAlaProProSerGlyLeuSerSerProGlnIleGlyThrLeuAlaSerArgThrAlaSerPheArgTrpSerProProMetPheProAsnGlyValIleHisSerTyrGluLeuGlnPheHisValAlaCysProProAspSerAlaLeuProCysThrProSerGlnIleGluThrLysTyrThrGlyLeuGlyGlnLysAlaSerLeuGlyGlyLeuGlnProTyrThrThrTyrLysLeuArgValValAlaHisAsnGluValGlySerThrAlaSerGluTrpIleSerPheThrThrGlnLysGluLeuProGlnTyrArgAlaProPheSerValAspSerAsnLeuSerValValCysValAsnTrpSerAspThrPheLeuLeuAsnGlyGlnLeuLysGluTyrValLeuThrAspGlyGlyArgArgValTyrSerGlyLeuAspThrThrLeuTyrIleProArgThrAlaAspLysThrPhePhePheGlnValIleCysThrThrAspGluGlySerValLysThrProLeuIleGlnTyrAspThrSerThrGlyLeuGlyLeuValLeuThrThrProGlyLysLysLysGlySerArgSerLysSerThrGluPheTyrSerGluLeuTrpPheIleValLeuMetAlaMetLeuGlyLeuIleLeuLeuAlaIlePheLeuSerLeuIleLeuGlnArgLysIleHisLysGluProTyrIleArgGluArgProProLeuValProLeuGlnLysArgMetSerProLeuAsnValTyrProProGlyGluAsnHisMetGlyLeuAlaAspThrLysIleProArgSerGlyThrProValSerIleArgSerAsnArgSerAlaCysValLeuArgIleProSerGlnAsnGlnThrSerLeuThrTyrSerGlnGlySerLeuHisArgSerValSerGlnLeuMetAspIleGlnAspLysLysValLeuMetAspAsnSerLeuTrpGluAlaIleMetGlyHisAsnSerGlyLeuTyrValAspGluGluAspLeuMetAsnAlaIleLysAspPheSerSerValThrLysGluArgThrThrPheThrAspThrHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673266"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139764932",
      "coordinates": [
        {
          "allele": "T",
          "end": 13307,
          "referenceAllele": "C",
          "start": 13306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_206933.4:c.12868C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_996816.3:p.Gln4290Ter",
        "hgvsWellDefined": "NP_996816.3:p.Gln4290_Leu5202delinsSerAsnGlyIleIleGlnSerTyrArgLeuGlnArgAsnGluMetLeuTyrProPheSerPheAspProValThrPheAsnTyrThrAspGluGluLeuLeuProPheSerThrTyrSerTyrAlaLeuGlnAlaCysThrSerGlyGlyCysSerThrSerLysProThrSerIleThrThrLeuGluAlaAlaProSerGluValSerProProAspLeuTrpAlaValSerAlaThrGlnMetAsnValCysTrpSerProProThrValGlnAsnGlyLysIleThrLysTyrLeuValArgTyrAspAsnLysGluSerLeuAlaGlyGlnGlyLeuCysLeuLeuValSerHisLeuGlnProTyrSerGlnTyrAsnPheSerLeuValAlaCysThrAsnGlyGlyCysThrAlaSerValSerLysSerAlaTrpThrMetGluAlaLeuProGluAsnMetAspSerProThrLeuGlnValThrGlySerGluSerIleGluIleThrTrpLysProProArgAsnProAsnGlyGlnIleArgSerTyrGluLeuArgArgAspGlyThrIleValTyrThrGlyLeuGluThrArgTyrArgAspPheThrLeuThrProGlyValGluTyrSerTyrThrValThrAlaSerAsnSerGlnGlyGlyIleLeuSerProLeuValLysAspArgThrSerProSerAlaProSerGlyMetGluProProLysLeuGlnAlaArgGlyProGlnGluIleLeuValAsnTrpAspProProValArgThrAsnGlyAspIleIleAsnTyrThrLeuPheIleArgGluLeuPheGluArgGluThrLysIleIleHisIleAsnThrThrHisAsnSerPheGlyMetGlnSerTyrIleValAsnGlnLeuLysProPheHisArgTyrGluIleArgIleGlnAlaCysThrThrLeuGlyCysAlaSerSerAspTrpThrPheIleGlnThrProGluIleAlaProLeuMetGlnProProProHisLeuGluValGlnMetAlaProGlyGlyPheGlnProThrValSerLeuLeuTrpThrGlyProLeuGlnProAsnGlyLysValLeuTyrTyrGluLeuTyrArgArgGlnIleAlaThrGlnProArgLysSerAsnProValLeuIleTyrAsnGlySerSerThrSerPheIleAspSerGluLeuLeuProPheThrGluTyrGluTyrGlnValTrpAlaValAsnSerAlaGlyLysAlaProSerSerTrpThrTrpCysArgThrGlyProAlaProProGluGlyLeuArgAlaProThrPheHisValIleSerSerThrGlnAlaValValAsnIleSerAlaProGlyLysProAsnGlyIleValSerLeuTyrArgLeuPheSerSerSerAlaHisGlyAlaGluThrValLeuSerGluGlyMetAlaThrGlnGlnThrLeuHisGlyLeuGlnAlaPheThrAsnTyrSerIleGlyValGluAlaCysThrCysPheAsnCysCysSerLysGlyProThrAlaGluLeuArgThrHisProAlaProProSerGlyLeuSerSerProGlnIleGlyThrLeuAlaSerArgThrAlaSerPheArgTrpSerProProMetPheProAsnGlyValIleHisSerTyrGluLeuGlnPheHisValAlaCysProProAspSerAlaLeuProCysThrProSerGlnIleGluThrLysTyrThrGlyLeuGlyGlnLysAlaSerLeuGlyGlyLeuGlnProTyrThrThrTyrLysLeuArgValValAlaHisAsnGluValGlySerThrAlaSerGluTrpIleSerPheThrThrGlnLysGluLeuProGlnTyrArgAlaProPheSerValAspSerAsnLeuSerValValCysValAsnTrpSerAspThrPheLeuLeuAsnGlyGlnLeuLysGluTyrValLeuThrAspGlyGlyArgArgValTyrSerGlyLeuAspThrThrLeuTyrIleProArgThrAlaAspLysThrPhePhePheGlnValIleCysThrThrAspGluGlySerValLysThrProLeuIleGlnTyrAspThrSerThrGlyLeuGlyLeuValLeuThrThrProGlyLysLysLysGlySerArgSerLysSerThrGluPheTyrSerGluLeuTrpPheIleValLeuMetAlaMetLeuGlyLeuIleLeuLeuAlaIlePheLeuSerLeuIleLeuGlnArgLysIleHisLysGluProTyrIleArgGluArgProProLeuValProLeuGlnLysArgMetSerProLeuAsnValTyrProProGlyGluAsnHisMetGlyLeuAlaAspThrLysIleProArgSerGlyThrProValSerIleArgSerAsnArgSerAlaCysValLeuArgIleProSerGlnAsnGlnThrSerLeuThrTyrSerGlnGlySerLeuHisArgSerValSerGlnLeuMetAspIleGlnAspLysLysValLeuMetAspAsnSerLeuTrpGluAlaIleMetGlyHisAsnSerGlyLeuTyrValAspGluGluAspLeuMetAsnAlaIleLysAspPheSerSerValThrLysGluArgThrThrPheThrAspThrHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307340.8:c.12868C>T"
          },
          "RefSeq": {
            "hgvs": "NM_206933.4:c.12868C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305941.3:p.Gln4290Ter"
          },
          "RefSeq": {
            "hgvs": "NP_996816.3:p.Gln4290Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}