{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA270055",
  "communityStandardTitle": [
    "NM_001142800.2(EYS):c.4957dup (p.Ser1653LysfsTer2)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=152823[alleleid]",
        "alleleId": 152823,
        "preferredName": "NM_001142800.2(EYS):c.4957dup (p.Ser1653fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/143105",
        "RCV": [
          "RCV000132626",
          "RCV001064886",
          "RCV001334821",
          "RCV003888554"
        ],
        "variationId": 143105
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.65300803dupT?assembly=hg19",
        "id": "chr6:g.65300803dupT"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.65300802_65300803insT?assembly=hg19",
        "id": "chr6:g.65300802_65300803insT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.64590910dupT?assembly=hg38",
        "id": "chr6:g.64590910dupT"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.64590909_64590910insT?assembly=hg38",
        "id": "chr6:g.64590909_64590910insT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/527236065",
        "rs": 527236065
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-65300802-C-CT?dataset=gnomad_r2_1",
        "id": "6-65300802-C-CT",
        "variant": "6:65300802 C / CT"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-64590909-C-CT?dataset=gnomad_r3",
        "id": "6-64590909-C-CT",
        "variant": "6:64590909 C / CT"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-64590909-C-CT?dataset=gnomad_r4",
        "id": "6-64590909-C-CT",
        "variant": "6:64590909 C / CT"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 64590911,
          "referenceAllele": "",
          "start": 64590911
        }
      ],
      "hgvs": [
        "NC_000006.12:g.64590911dup",
        "CM000668.2:g.64590911dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 65300804,
          "referenceAllele": "",
          "start": 65300804
        }
      ],
      "hgvs": [
        "NC_000006.11:g.65300804dup",
        "CM000668.1:g.65300804dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 65357525,
          "referenceAllele": "",
          "start": 65357525
        }
      ],
      "hgvs": [
        "NC_000006.10:g.65357525dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1121316,
          "referenceAllele": "",
          "start": 1121316
        }
      ],
      "hgvs": [
        "NG_023443.1:g.1121316dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003870"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1121316,
          "referenceAllele": "",
          "start": 1121316
        }
      ],
      "hgvs": [
        "NG_023443.2:g.1121316dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616268"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5496,
          "referenceAllele": "",
          "start": 5496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021555",
      "geneNCBI_id": 346007,
      "geneSymbol": "EYS",
      "hgvs": [
        "ENST00000503581.6:c.4957dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424243.1:p.Ser1653LysfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757979",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000503581.6:c.4957dup"
          },
          "RefSeq": {
            "hgvs": "NM_001142800.2:c.4957dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000424243.1:p.Ser1653LysfsTer2"
          },
          "RefSeq": {
            "hgvs": "NP_001136272.1:p.Ser1653LysfsTer2"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4957,
          "referenceAllele": "",
          "start": 4957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021555",
      "geneNCBI_id": 346007,
      "geneSymbol": "EYS",
      "hgvs": [
        "ENST00000370616.6:c.4957dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359650.2:p.Ser1653LysfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268150"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4957,
          "referenceAllele": "",
          "start": 4957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021555",
      "geneNCBI_id": 346007,
      "geneSymbol": "EYS",
      "hgvs": [
        "ENST00000370618.7:c.4957dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359652.4:p.Ser1653LysfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268151"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5484,
          "referenceAllele": "",
          "start": 5484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021555",
      "geneNCBI_id": 346007,
      "geneSymbol": "EYS",
      "hgvs": [
        "ENST00000370621.7:c.4957dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359655.3:p.Ser1653LysfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268153"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5495,
          "referenceAllele": "",
          "start": 5495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021555",
      "geneNCBI_id": 346007,
      "geneSymbol": "EYS",
      "hgvs": [
        "ENST00000503581.5:c.4957dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424243.1:p.Ser1653LysfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335850"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5495,
          "referenceAllele": "",
          "start": 5495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021555",
      "geneNCBI_id": 346007,
      "geneSymbol": "EYS",
      "hgvs": [
        "NM_001142800.1:c.4957dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136272.1:p.Ser1653LysfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013071"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5495,
          "referenceAllele": "",
          "start": 5495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021555",
      "geneNCBI_id": 346007,
      "geneSymbol": "EYS",
      "hgvs": [
        "NM_001292009.1:c.4957dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278938.1:p.Ser1653LysfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024437"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5496,
          "referenceAllele": "",
          "start": 5496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021555",
      "geneNCBI_id": 346007,
      "geneSymbol": "EYS",
      "hgvs": [
        "NM_001142800.2:c.4957dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136272.1:p.Ser1653LysfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677631",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000503581.6:c.4957dup"
          },
          "RefSeq": {
            "hgvs": "NM_001142800.2:c.4957dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000424243.1:p.Ser1653LysfsTer2"
          },
          "RefSeq": {
            "hgvs": "NP_001136272.1:p.Ser1653LysfsTer2"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5496,
          "referenceAllele": "",
          "start": 5496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021555",
      "geneNCBI_id": 346007,
      "geneSymbol": "EYS",
      "hgvs": [
        "NM_001292009.2:c.4957dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278938.1:p.Ser1653LysfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716738"
    }
  ],
  "type": "nucleotide"
}