{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA226492",
  "communityStandardTitle": [
    "NM_000329.3(RPE65):c.1207_1210dup (p.Glu404AlafsTer4)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=104721[alleleid]",
        "alleleId": 104721,
        "preferredName": "NM_000329.3(RPE65):c.1207_1210dup (p.Glu404fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/98831",
        "RCV": [
          "RCV000085156",
          "RCV001383021",
          "RCV003466996"
        ],
        "variationId": 98831
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.68897187_68897190dupCCAG?assembly=hg19",
        "id": "chr1:g.68897187_68897190dupCCAG"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.68897186_68897187insCCAG?assembly=hg19",
        "id": "chr1:g.68897186_68897187insCCAG"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.68431504_68431507dupCCAG?assembly=hg38",
        "id": "chr1:g.68431504_68431507dupCCAG"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.68431503_68431504insCCAG?assembly=hg38",
        "id": "chr1:g.68431503_68431504insCCAG"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/62636295",
        "rs": 62636295
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-68431503-T-TCCAG?dataset=gnomad_r4",
        "id": "1-68431503-T-TCCAG",
        "variant": "1:68431503 T / TCCAG"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "CCAG",
          "end": 68431511,
          "referenceAllele": "",
          "start": 68431511
        }
      ],
      "hgvs": [
        "NC_000001.11:g.68431508_68431511dup",
        "CM000663.2:g.68431508_68431511dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "CCAG",
          "end": 68897194,
          "referenceAllele": "",
          "start": 68897194
        }
      ],
      "hgvs": [
        "NC_000001.10:g.68897191_68897194dup",
        "CM000663.1:g.68897191_68897194dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "CCAG",
          "end": 68669782,
          "referenceAllele": "",
          "start": 68669782
        }
      ],
      "hgvs": [
        "NC_000001.9:g.68669779_68669782dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "CTGG",
          "end": 23456,
          "referenceAllele": "",
          "start": 23456
        }
      ],
      "hgvs": [
        "NG_008472.1:g.23453_23456dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001112"
    },
    {
      "coordinates": [
        {
          "allele": "CTGG",
          "end": 23456,
          "referenceAllele": "",
          "start": 23456
        }
      ],
      "hgvs": [
        "NG_008472.2:g.23453_23456dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673504"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "CTGG",
          "end": 1259,
          "referenceAllele": "",
          "start": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "ENST00000262340.6:c.1207_1210dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262340.5:p.Glu404AlafsTer4",
        "hgvsWellDefined": "ENSP00000262340.5:p.[Glu404_Ser410delinsAla;Pro412_Gln414del;Phe416_Tyr433del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742323",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262340.6:c.1207_1210dup"
          },
          "RefSeq": {
            "hgvs": "NM_000329.3:c.1207_1210dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262340.5:p.Glu404AlafsTer4"
          },
          "RefSeq": {
            "hgvs": "NP_000320.1:p.Glu404AlafsTer4"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CTGG",
          "end": 1264,
          "referenceAllele": "",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "ENST00000262340.5:c.1207_1210dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262340.5:p.Glu404AlafsTer4",
        "hgvsWellDefined": "ENSP00000262340.5:p.[Glu404_Ser410delinsAla;Pro412_Gln414del;Phe416_Tyr433del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250991"
    },
    {
      "coordinates": [
        {
          "allele": "CTGG",
          "end": 1264,
          "referenceAllele": "",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "NM_000329.2:c.1207_1210dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000320.1:p.Glu404AlafsTer4",
        "hgvsWellDefined": "NP_000320.1:p.[Glu404_Ser410delinsAla;Pro412_Gln414del;Phe416_Tyr433del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006392"
    },
    {
      "coordinates": [
        {
          "allele": "CTGG",
          "end": 1476,
          "referenceAllele": "",
          "start": 1476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "XM_017002027.1:c.931_934dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857516.1:p.Glu312AlafsTer4",
        "hgvsWellDefined": "XP_016857516.1:p.[Glu312_Ser318delinsAla;Pro320_Gln322del;Phe324_Tyr341del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558066"
    },
    {
      "coordinates": [
        {
          "allele": "CTGG",
          "end": 1259,
          "referenceAllele": "",
          "start": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "NM_000329.3:c.1207_1210dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000320.1:p.Glu404AlafsTer4",
        "hgvsWellDefined": "NP_000320.1:p.[Glu404_Ser410delinsAla;Pro412_Gln414del;Phe416_Tyr433del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662405",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262340.6:c.1207_1210dup"
          },
          "RefSeq": {
            "hgvs": "NM_000329.3:c.1207_1210dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262340.5:p.Glu404AlafsTer4"
          },
          "RefSeq": {
            "hgvs": "NP_000320.1:p.Glu404AlafsTer4"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}