{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA228014",
  "communityStandardTitle": [
    "NM_201253.3(CRB1):c.257_258dup (p.Asn87Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=405001[alleleid]",
        "alleleId": 405001,
        "preferredName": "NM_201253.3(CRB1):c.257_258dup (p.Asn87Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/419132",
        "RCV": [
          "RCV000481076",
          "RCV001856828",
          "RCV003449183",
          "RCV003449182",
          "RCV001833607"
        ],
        "variationId": 419132
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.197297737_197297738dupGT?assembly=hg19",
        "id": "chr1:g.197297737_197297738dupGT"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.197297733_197297734insTG?assembly=hg19",
        "id": "chr1:g.197297733_197297734insTG"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.197328607_197328608dupGT?assembly=hg38",
        "id": "chr1:g.197328607_197328608dupGT"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.197328603_197328604insTG?assembly=hg38",
        "id": "chr1:g.197328603_197328604insTG"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/62636260",
        "rs": 62636260
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-197297733-T-TTG?dataset=gnomad_r2_1",
        "id": "1-197297733-T-TTG",
        "variant": "1:197297733 T / TTG"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-197328603-T-TTG?dataset=gnomad_r4",
        "id": "1-197328603-T-TTG",
        "variant": "1:197328603 T / TTG"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "TG",
          "end": 197328609,
          "referenceAllele": "",
          "start": 197328609
        }
      ],
      "hgvs": [
        "NC_000001.11:g.197328608_197328609dup",
        "CM000663.2:g.197328608_197328609dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "TG",
          "end": 197297739,
          "referenceAllele": "",
          "start": 197297739
        }
      ],
      "hgvs": [
        "NC_000001.10:g.197297738_197297739dup",
        "CM000663.1:g.197297738_197297739dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "TG",
          "end": 195564362,
          "referenceAllele": "",
          "start": 195564362
        }
      ],
      "hgvs": [
        "NC_000001.9:g.195564361_195564362dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 65332,
          "referenceAllele": "",
          "start": 65332
        }
      ],
      "hgvs": [
        "NG_008483.1:g.65331_65332dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001118"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 132148,
          "referenceAllele": "",
          "start": 132148
        }
      ],
      "hgvs": [
        "NG_008483.2:g.132147_132148dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616106"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 419,
          "referenceAllele": "",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000367400.8:c.257_258dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356370.3:p.Asn87Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750000",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367400.8:c.257_258dup"
          },
          "RefSeq": {
            "hgvs": "NM_201253.3:c.257_258dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356370.3:p.Asn87Ter"
          },
          "RefSeq": {
            "hgvs": "NP_957705.1:p.Asn87Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 393,
          "referenceAllele": "",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000638467.1:c.257_258dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491102.1:p.Asn87Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764542"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 258,
          "referenceAllele": "",
          "start": 258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000367399.6:c.257_258dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356369.2:p.Asn87Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266365"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 393,
          "referenceAllele": "",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000367400.7:c.257_258dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356370.3:p.Asn87Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266366"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 395,
          "referenceAllele": "",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000475659.1:n.394_395dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316891"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 393,
          "referenceAllele": "",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000484075.5:c.257_258dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433932.1:p.Asn87Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323413"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 467,
          "referenceAllele": "",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000535699.5:c.50_51dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438786.1:p.Asn18Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359878"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 467,
          "referenceAllele": "",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000538660.5:c.257_258dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438091.1:p.Asn87Ter",
        "hgvsWellDefined": "ENSP00000438091.1:p.Thr88_Asn117del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361440"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 467,
          "referenceAllele": "",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001193640.1:c.257_258dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180569.1:p.Asn87Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016470"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 390,
          "referenceAllele": "",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001257965.1:c.50_51dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244894.1:p.Asn18Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019649"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826447489",
      "coordinates": [
        {
          "allele": "TG",
          "end": 467,
          "referenceAllele": "",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001257966.1:c.257_258dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244895.1:p.Asn87Ter",
        "hgvsWellDefined": "NP_001244895.1:p.Thr88_Asn117del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019650"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 467,
          "referenceAllele": "",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_201253.2:c.257_258dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_957705.1:p.Asn87Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044977"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 467,
          "referenceAllele": "",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NR_047563.1:n.466_467dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052002"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 467,
          "referenceAllele": "",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NR_047564.1:n.466_467dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052003"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 392,
          "referenceAllele": "",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509365.1:c.257_258dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507667.1:p.Asn87Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076633"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 392,
          "referenceAllele": "",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509366.1:c.257_258dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507668.1:p.Asn87Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076634"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 392,
          "referenceAllele": "",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509367.1:c.257_258dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507669.1:p.Asn87Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076635"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 235,
          "endIntronDirection": "-",
          "endIntronOffset": 15671,
          "referenceAllele": "",
          "start": 235,
          "startIntronDirection": "-",
          "startIntronOffset": 15671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509368.1:c.71-15673_71-15672dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507670.1:n.71-15673_71-15672dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076636"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 392,
          "referenceAllele": "",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509365.2:c.257_258dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507667.1:p.Asn87Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541251"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 299,
          "referenceAllele": "",
          "start": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_017000851.1:c.-447_-446dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856340.1:n.-447_-446dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557131"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 392,
          "referenceAllele": "",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_017000852.1:c.257_258dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856341.1:p.Asn87Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557132"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 419,
          "referenceAllele": "",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_201253.3:c.257_258dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_957705.1:p.Asn87Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367400.8:c.257_258dup"
          },
          "RefSeq": {
            "hgvs": "NM_201253.3:c.257_258dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356370.3:p.Asn87Ter"
          },
          "RefSeq": {
            "hgvs": "NP_957705.1:p.Asn87Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 419,
          "referenceAllele": "",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001193640.2:c.257_258dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180569.1:p.Asn87Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679252"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 348,
          "referenceAllele": "",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001257965.2:c.50_51dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244894.1:p.Asn18Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680747"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 419,
          "referenceAllele": "",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NR_047563.2:n.418_419dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702513"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 419,
          "referenceAllele": "",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NR_047564.2:n.418_419dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702514"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826447489",
      "coordinates": [
        {
          "allele": "TG",
          "end": 419,
          "referenceAllele": "",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001257966.2:c.257_258dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244895.1:p.Asn87Ter",
        "hgvsWellDefined": "NP_001244895.1:p.Thr88_Asn117del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714892"
    }
  ],
  "type": "nucleotide"
}