{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16040716",
  "communityStandardTitle": [
    "NM_206933.4(USH2A):c.13257_13263del (p.Phe4419LeufsTer2)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357061[alleleid]",
        "alleleId": 357061,
        "preferredName": "NM_206933.4(USH2A):c.13257_13263del (p.Phe4419fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/371787",
        "RCV": [
          "RCV000409412",
          "RCV000411819"
        ],
        "variationId": 371787
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.215847990_215847996del?assembly=hg19",
        "id": "chr1:g.215847990_215847996del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.215674648_215674654del?assembly=hg38",
        "id": "chr1:g.215674648_215674654del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057517533",
        "rs": 1057517533
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 215674657,
          "referenceAllele": "GGAGAAG",
          "start": 215674650
        }
      ],
      "hgvs": [
        "NC_000001.11:g.215674651_215674657del",
        "CM000663.2:g.215674651_215674657del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 215847999,
          "referenceAllele": "GGAGAAG",
          "start": 215847992
        }
      ],
      "hgvs": [
        "NC_000001.10:g.215847993_215847999del",
        "CM000663.1:g.215847993_215847999del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 213914622,
          "referenceAllele": "GGAGAAG",
          "start": 213914615
        }
      ],
      "hgvs": [
        "NC_000001.9:g.213914616_213914622del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 753749,
          "referenceAllele": "CCTTCTC",
          "start": 753742
        }
      ],
      "hgvs": [
        "NG_009497.1:g.753743_753749del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001602"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 753801,
          "referenceAllele": "CCTTCTC",
          "start": 753794
        }
      ],
      "hgvs": [
        "NG_009497.2:g.753795_753801del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706096"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 13702,
          "referenceAllele": "CCTTCTC",
          "start": 13695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000307340.8:c.13257_13263del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305941.3:p.Phe4419LeufsTer2",
        "hgvsWellDefined": "ENSP00000305941.3:p.[Phe4419_Ser4420del;Val4422_Thr4451del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745360",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307340.8:c.13257_13263del"
          },
          "RefSeq": {
            "hgvs": "NM_206933.4:c.13257_13263del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305941.3:p.Phe4419LeufsTer2"
          },
          "RefSeq": {
            "hgvs": "NP_996816.3:p.Phe4419LeufsTer2"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 13702,
          "referenceAllele": "CCTTCTC",
          "start": 13695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000674083.1:c.13257_13263del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501296.1:p.Phe4419LeufsTer2",
        "hgvsWellDefined": "ENSP00000501296.1:p.[Phe4419_Ser4420del;Val4422_Thr4451del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774106"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 13650,
          "referenceAllele": "CCTTCTC",
          "start": 13643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000307340.7:c.13257_13263del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305941.3:p.Phe4419LeufsTer2",
        "hgvsWellDefined": "ENSP00000305941.3:p.[Phe4419_Ser4420del;Val4422_Thr4451del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255872"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 13650,
          "referenceAllele": "CCTTCTC",
          "start": 13643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_206933.2:c.13257_13263del"
      ],
      "proteinEffect": {
        "hgvs": "NP_996816.2:p.Phe4419LeufsTer2",
        "hgvsWellDefined": "NP_996816.2:p.[Phe4419_Ser4420del;Val4422_Thr4451del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045339"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 13702,
          "referenceAllele": "CCTTCTC",
          "start": 13695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_206933.3:c.13257_13263del"
      ],
      "proteinEffect": {
        "hgvs": "NP_996816.2:p.Phe4419LeufsTer2",
        "hgvsWellDefined": "NP_996816.2:p.[Phe4419_Ser4420del;Val4422_Thr4451del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673266"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 13702,
          "referenceAllele": "CCTTCTC",
          "start": 13695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_206933.4:c.13257_13263del"
      ],
      "proteinEffect": {
        "hgvs": "NP_996816.3:p.Phe4419LeufsTer2",
        "hgvsWellDefined": "NP_996816.3:p.[Phe4419_Ser4420del;Val4422_Thr4451del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307340.8:c.13257_13263del"
          },
          "RefSeq": {
            "hgvs": "NM_206933.4:c.13257_13263del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305941.3:p.Phe4419LeufsTer2"
          },
          "RefSeq": {
            "hgvs": "NP_996816.3:p.Phe4419LeufsTer2"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}