{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA270061",
  "communityStandardTitle": [
    "NM_001142800.2(EYS):c.7048del (p.Cys2350AlafsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=152827[alleleid]",
        "alleleId": 152827,
        "preferredName": "NM_001142800.2(EYS):c.7048del (p.Cys2350fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/143109",
        "RCV": [
          "RCV000132630",
          "RCV003556176",
          "RCV003888555"
        ],
        "variationId": 143109
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.64694283del?assembly=hg19",
        "id": "chr6:g.64694283del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.63984390del?assembly=hg38",
        "id": "chr6:g.63984390del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/527236069",
        "rs": 527236069
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 63984390,
          "referenceAllele": "A",
          "start": 63984389
        }
      ],
      "hgvs": [
        "NC_000006.12:g.63984390del",
        "CM000668.2:g.63984390del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 64694283,
          "referenceAllele": "A",
          "start": 64694282
        }
      ],
      "hgvs": [
        "NC_000006.11:g.64694283del",
        "CM000668.1:g.64694283del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 64752242,
          "referenceAllele": "A",
          "start": 64752241
        }
      ],
      "hgvs": [
        "NC_000006.10:g.64752242del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1727836,
          "referenceAllele": "T",
          "start": 1727835
        }
      ],
      "hgvs": [
        "NG_023443.1:g.1727836del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003870"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1727836,
          "referenceAllele": "T",
          "start": 1727835
        }
      ],
      "hgvs": [
        "NG_023443.2:g.1727836del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616268"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7587,
          "referenceAllele": "T",
          "start": 7586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021555",
      "geneNCBI_id": 346007,
      "geneSymbol": "EYS",
      "hgvs": [
        "ENST00000503581.6:c.7048del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424243.1:p.Cys2350AlafsTer?",
        "hgvsWellDefined": "ENSP00000424243.1:p.[Cys2350_Leu2357delinsAlaSerValIleMetLysIleCys;Cys2359_Pro2379delinsValSerValGlnGlyCysIleGlnAlaSerCysAlaSerLeuGlnValValLysThrThrHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757979",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000503581.6:c.7048del"
          },
          "RefSeq": {
            "hgvs": "NM_001142800.2:c.7048del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000424243.1:p.Cys2350AlafsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_001136272.1:p.Cys2350AlafsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7048,
          "referenceAllele": "T",
          "start": 7047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021555",
      "geneNCBI_id": 346007,
      "geneSymbol": "EYS",
      "hgvs": [
        "ENST00000370616.6:c.7048del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359650.2:p.Cys2350AlafsTer?",
        "hgvsWellDefined": "ENSP00000359650.2:p.[Cys2350_Leu2357delinsAlaSerValIleMetLysIleCys;Cys2359_Pro2379delinsValSerValGlnGlyCysIleGlnAlaSerCysAlaSerLeuGlnValValLysThrThrHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268150"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7048,
          "referenceAllele": "T",
          "start": 7047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021555",
      "geneNCBI_id": 346007,
      "geneSymbol": "EYS",
      "hgvs": [
        "ENST00000370618.7:c.7048del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359652.4:p.Cys2350AlafsTer?",
        "hgvsWellDefined": "ENSP00000359652.4:p.[Cys2350_Leu2357delinsAlaSerValIleMetLysIleCys;Cys2359_Pro2379delinsValSerValGlnGlyCysIleGlnAlaSerCysAlaSerLeuGlnValValLysThrThrHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268151"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7575,
          "referenceAllele": "T",
          "start": 7574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021555",
      "geneNCBI_id": 346007,
      "geneSymbol": "EYS",
      "hgvs": [
        "ENST00000370621.7:c.7048del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359655.3:p.Cys2350AlafsTer?",
        "hgvsWellDefined": "ENSP00000359655.3:p.[Cys2350_Leu2357delinsAlaSerValIleMetLysIleCys;Cys2359_Pro2379delinsValSerValGlnGlyCysIleGlnAlaSerCysAlaSerLeuGlnValValLysThrThrHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268153"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 362,
          "referenceAllele": "T",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021555",
      "geneNCBI_id": 346007,
      "geneSymbol": "EYS",
      "hgvs": [
        "ENST00000398580.3:c.362del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS278334"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7586,
          "referenceAllele": "T",
          "start": 7585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021555",
      "geneNCBI_id": 346007,
      "geneSymbol": "EYS",
      "hgvs": [
        "ENST00000503581.5:c.7048del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424243.1:p.Cys2350AlafsTer?",
        "hgvsWellDefined": "ENSP00000424243.1:p.[Cys2350_Leu2357delinsAlaSerValIleMetLysIleCys;Cys2359_Pro2379delinsValSerValGlnGlyCysIleGlnAlaSerCysAlaSerLeuGlnValValLysThrThrHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335850"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7586,
          "referenceAllele": "T",
          "start": 7585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021555",
      "geneNCBI_id": 346007,
      "geneSymbol": "EYS",
      "hgvs": [
        "NM_001142800.1:c.7048del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136272.1:p.Cys2350AlafsTer?",
        "hgvsWellDefined": "NP_001136272.1:p.[Cys2350_Leu2357delinsAlaSerValIleMetLysIleCys;Cys2359_Pro2379delinsValSerValGlnGlyCysIleGlnAlaSerCysAlaSerLeuGlnValValLysThrThrHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013071"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7586,
          "referenceAllele": "T",
          "start": 7585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021555",
      "geneNCBI_id": 346007,
      "geneSymbol": "EYS",
      "hgvs": [
        "NM_001292009.1:c.7048del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278938.1:p.Cys2350AlafsTer?",
        "hgvsWellDefined": "NP_001278938.1:p.[Cys2350_Leu2357delinsAlaSerValIleMetLysIleCys;Cys2359_Pro2379delinsValSerValGlnGlyCysIleGlnAlaSerCysAlaSerLeuGlnValValLysThrThrHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024437"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 606,
          "endIntronDirection": "+",
          "endIntronOffset": 16106,
          "referenceAllele": "A",
          "start": 606,
          "startIntronDirection": "+",
          "startIntronOffset": 16105
        }
      ],
      "hgvs": [
        "XR_001744188.1:n.606+16106del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593086"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 129,
          "endIntronDirection": "+",
          "endIntronOffset": 16106,
          "referenceAllele": "A",
          "start": 129,
          "startIntronDirection": "+",
          "startIntronOffset": 16105
        }
      ],
      "hgvs": [
        "XR_001744189.1:n.129+16106del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593087"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 197,
          "endIntronDirection": "+",
          "endIntronOffset": 16106,
          "referenceAllele": "A",
          "start": 197,
          "startIntronDirection": "+",
          "startIntronOffset": 16105
        }
      ],
      "hgvs": [
        "XR_001744190.1:n.197+16106del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593088"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 606,
          "endIntronDirection": "-",
          "endIntronOffset": 1263,
          "referenceAllele": "A",
          "start": 606,
          "startIntronDirection": "-",
          "startIntronOffset": 1264
        }
      ],
      "hgvs": [
        "XR_001744191.1:n.607-1264del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593089"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7587,
          "referenceAllele": "T",
          "start": 7586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021555",
      "geneNCBI_id": 346007,
      "geneSymbol": "EYS",
      "hgvs": [
        "NM_001142800.2:c.7048del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136272.1:p.Cys2350AlafsTer?",
        "hgvsWellDefined": "NP_001136272.1:p.[Cys2350_Leu2357delinsAlaSerValIleMetLysIleCys;Cys2359_Pro2379delinsValSerValGlnGlyCysIleGlnAlaSerCysAlaSerLeuGlnValValLysThrThrHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677631",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000503581.6:c.7048del"
          },
          "RefSeq": {
            "hgvs": "NM_001142800.2:c.7048del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000424243.1:p.Cys2350AlafsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_001136272.1:p.Cys2350AlafsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7587,
          "referenceAllele": "T",
          "start": 7586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021555",
      "geneNCBI_id": 346007,
      "geneSymbol": "EYS",
      "hgvs": [
        "NM_001292009.2:c.7048del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278938.1:p.Cys2350AlafsTer?",
        "hgvsWellDefined": "NP_001278938.1:p.[Cys2350_Leu2357delinsAlaSerValIleMetLysIleCys;Cys2359_Pro2379delinsValSerValGlnGlyCysIleGlnAlaSerCysAlaSerLeuGlnValValLysThrThrHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716738"
    }
  ],
  "type": "nucleotide"
}