{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA252226",
  "communityStandardTitle": [
    "NM_206933.4(USH2A):c.2299del (p.Glu767SerfsTer21)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17390[alleleid]",
        "alleleId": 17390,
        "preferredName": "NM_206933.4(USH2A):c.2299del (p.Glu767fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2351",
        "RCV": [
          "RCV000002445",
          "RCV000032524",
          "RCV000210326",
          "RCV000191141",
          "RCV000254870",
          "RCV000504641",
          "RCV000623326",
          "RCV000787895",
          "RCV000735362",
          "RCV000787897",
          "RCV000787899",
          "RCV000824793",
          "RCV001000453",
          "RCV001095692",
          "RCV002504737"
        ],
        "variationId": 2351
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-216420436-TC-T",
        "id": "1-216420436-TC-T",
        "variant": "1:216420436 TC / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.216420437del?assembly=hg19",
        "id": "chr1:g.216420437del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.216247095del?assembly=hg38",
        "id": "chr1:g.216247095del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80338903",
        "rs": 80338903
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-216420436-TC-T?dataset=gnomad_r2_1",
        "id": "1-216420436-TC-T",
        "variant": "1:216420436 TC / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-216247094-TC-T?dataset=gnomad_r3",
        "id": "1-216247094-TC-T",
        "variant": "1:216247094 TC / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-216247094-TC-T?dataset=gnomad_r4",
        "id": "1-216247094-TC-T",
        "variant": "1:216247094 TC / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 216247095,
          "referenceAllele": "C",
          "start": 216247094
        }
      ],
      "hgvs": [
        "NC_000001.11:g.216247095del",
        "CM000663.2:g.216247095del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 216420437,
          "referenceAllele": "C",
          "start": 216420436
        }
      ],
      "hgvs": [
        "NC_000001.10:g.216420437del",
        "CM000663.1:g.216420437del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 214487060,
          "referenceAllele": "C",
          "start": 214487059
        }
      ],
      "hgvs": [
        "NC_000001.9:g.214487060del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 181302,
          "referenceAllele": "G",
          "start": 181301
        }
      ],
      "hgvs": [
        "NG_009497.1:g.181302del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001602"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 181354,
          "referenceAllele": "G",
          "start": 181353
        }
      ],
      "hgvs": [
        "NG_009497.2:g.181354del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706096"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2738,
          "referenceAllele": "G",
          "start": 2737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000307340.8:c.2299del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305941.3:p.Glu767SerfsTer21"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745360",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307340.8:c.2299del"
          },
          "RefSeq": {
            "hgvs": "NM_206933.4:c.2299del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305941.3:p.Glu767SerfsTer21"
          },
          "RefSeq": {
            "hgvs": "NP_996816.3:p.Glu767SerfsTer21"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2738,
          "referenceAllele": "G",
          "start": 2737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000674083.1:c.2299del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501296.1:p.Glu767SerfsTer21"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774106"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2686,
          "referenceAllele": "G",
          "start": 2685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000307340.7:c.2299del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305941.3:p.Glu767SerfsTer21"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255872"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2686,
          "referenceAllele": "G",
          "start": 2685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000366942.3:c.2299del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355909.3:p.Glu767SerfsTer21",
        "hgvsWellDefined": "ENSP00000355909.3:p.[Glu767_Cys768delinsSerAla;Glu771_Ala772delinsLysPro;Gly774_Asp778delinsAspPheSerVal;Cys780_Arg781delinsProAla;Asn783_Val789delinsLys;Asn791_Asp796delinsPheMetGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266105"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2686,
          "referenceAllele": "G",
          "start": 2685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_007123.5:c.2299del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009054.5:p.Glu767SerfsTer21",
        "hgvsWellDefined": "NP_009054.5:p.[Glu767_Cys768delinsSerAla;Glu771_Ala772delinsLysPro;Gly774_Asp778delinsAspPheSerVal;Cys780_Arg781delinsProAla;Asn783_Val789delinsLys;Asn791_Asp796delinsPheMetGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032063"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2686,
          "referenceAllele": "G",
          "start": 2685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_206933.2:c.2299del"
      ],
      "proteinEffect": {
        "hgvs": "NP_996816.2:p.Glu767SerfsTer21"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045339"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2738,
          "referenceAllele": "G",
          "start": 2737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_206933.3:c.2299del"
      ],
      "proteinEffect": {
        "hgvs": "NP_996816.2:p.Glu767SerfsTer21"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673266"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2738,
          "referenceAllele": "G",
          "start": 2737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_007123.6:c.2299del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009054.6:p.Glu767SerfsTer21",
        "hgvsWellDefined": "NP_009054.6:p.[Glu767_Cys768delinsSerAla;Glu771_Ala772delinsLysPro;Gly774_Asp778delinsAspPheSerVal;Cys780_Arg781delinsProAla;Asn783_Val789delinsLys;Asn791_Asp796delinsPheMetGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696915"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2738,
          "referenceAllele": "G",
          "start": 2737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_206933.4:c.2299del"
      ],
      "proteinEffect": {
        "hgvs": "NP_996816.3:p.Glu767SerfsTer21"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307340.8:c.2299del"
          },
          "RefSeq": {
            "hgvs": "NM_206933.4:c.2299del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305941.3:p.Glu767SerfsTer21"
          },
          "RefSeq": {
            "hgvs": "NP_996816.3:p.Glu767SerfsTer21"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}