{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1394682",
  "communityStandardTitle": [
    "NM_206933.4(USH2A):c.8126_8127dup (p.Asn2710GlnfsTer7)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1288118[alleleid]",
        "alleleId": 1288118,
        "preferredName": "NM_206933.4(USH2A):c.8126_8127dup (p.Asn2710fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1298334",
        "RCV": [
          "RCV001725801",
          "RCV002032683"
        ],
        "variationId": 1298334
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-216061863-T-TTG",
        "id": "1-216061863-T-TTG",
        "variant": "1:216061863 T / TTG"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.216061863_216061864insTG?assembly=hg19",
        "id": "chr1:g.216061863_216061864insTG"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.215888521_215888522insTG?assembly=hg38",
        "id": "chr1:g.215888521_215888522insTG"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/768367348",
        "rs": 768367348
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-216061863-T-TTG?dataset=gnomad_r2_1",
        "id": "1-216061863-T-TTG",
        "variant": "1:216061863 T / TTG"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-215888521-T-TTG?dataset=gnomad_r4",
        "id": "1-215888521-T-TTG",
        "variant": "1:215888521 T / TTG"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "TG",
          "end": 215888525,
          "referenceAllele": "",
          "start": 215888525
        }
      ],
      "hgvs": [
        "NC_000001.11:g.215888524_215888525dup",
        "CM000663.2:g.215888524_215888525dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "TG",
          "end": 216061867,
          "referenceAllele": "",
          "start": 216061867
        }
      ],
      "hgvs": [
        "NC_000001.10:g.216061866_216061867dup",
        "CM000663.1:g.216061866_216061867dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "TG",
          "end": 214128490,
          "referenceAllele": "",
          "start": 214128490
        }
      ],
      "hgvs": [
        "NC_000001.9:g.214128489_214128490dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 539875,
          "referenceAllele": "",
          "start": 539875
        }
      ],
      "hgvs": [
        "NG_009497.1:g.539874_539875dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001602"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 539927,
          "referenceAllele": "",
          "start": 539927
        }
      ],
      "hgvs": [
        "NG_009497.2:g.539926_539927dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706096"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 8566,
          "referenceAllele": "",
          "start": 8566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000307340.8:c.8126_8127dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305941.3:p.Asn2710GlnfsTer7"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745360",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307340.8:c.8126_8127dup"
          },
          "RefSeq": {
            "hgvs": "NM_206933.4:c.8126_8127dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305941.3:p.Asn2710GlnfsTer7"
          },
          "RefSeq": {
            "hgvs": "NP_996816.3:p.Asn2710GlnfsTer7"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 8566,
          "referenceAllele": "",
          "start": 8566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000674083.1:c.8126_8127dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501296.1:p.Asn2710GlnfsTer7"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774106"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 8514,
          "referenceAllele": "",
          "start": 8514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000307340.7:c.8126_8127dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305941.3:p.Asn2710GlnfsTer7"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255872"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 8514,
          "referenceAllele": "",
          "start": 8514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_206933.2:c.8126_8127dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_996816.2:p.Asn2710GlnfsTer7"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045339"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 8566,
          "referenceAllele": "",
          "start": 8566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_206933.3:c.8126_8127dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_996816.2:p.Asn2710GlnfsTer7"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673266"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 8566,
          "referenceAllele": "",
          "start": 8566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_206933.4:c.8126_8127dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_996816.3:p.Asn2710GlnfsTer7"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307340.8:c.8126_8127dup"
          },
          "RefSeq": {
            "hgvs": "NM_206933.4:c.8126_8127dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305941.3:p.Asn2710GlnfsTer7"
          },
          "RefSeq": {
            "hgvs": "NP_996816.3:p.Asn2710GlnfsTer7"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}