{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10605691",
  "communityStandardTitle": [
    "NM_201253.3(CRB1):c.799_800delinsA (p.Ala267ThrfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=271416[alleleid]",
        "alleleId": 271416,
        "preferredName": "NM_201253.3(CRB1):c.799_800delinsA (p.Ala267fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/287179",
        "RCV": [
          "RCV000399049",
          "RCV001245164",
          "RCV003454807",
          "RCV003454806"
        ],
        "variationId": 287179
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.197313557_197313558delinsA?assembly=hg19",
        "id": "chr1:g.197313557_197313558delinsA"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.197344427_197344428delinsA?assembly=hg38",
        "id": "chr1:g.197344427_197344428delinsA"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886043587",
        "rs": 886043587
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 197344428,
          "referenceAllele": "GC",
          "start": 197344426
        }
      ],
      "hgvs": [
        "NC_000001.11:g.197344427_197344428delinsA",
        "CM000663.2:g.197344427_197344428delinsA"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 197313558,
          "referenceAllele": "GC",
          "start": 197313556
        }
      ],
      "hgvs": [
        "NC_000001.10:g.197313557_197313558delinsA",
        "CM000663.1:g.197313557_197313558delinsA"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 195580181,
          "referenceAllele": "GC",
          "start": 195580179
        }
      ],
      "hgvs": [
        "NC_000001.9:g.195580180_195580181delinsA"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 81151,
          "referenceAllele": "GC",
          "start": 81149
        }
      ],
      "hgvs": [
        "NG_008483.1:g.81150_81151delinsA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001118"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 147967,
          "referenceAllele": "GC",
          "start": 147965
        }
      ],
      "hgvs": [
        "NG_008483.2:g.147966_147967delinsA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616106"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 961,
          "referenceAllele": "GC",
          "start": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000367400.8:c.799_800delinsA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356370.3:p.Ala267ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750000",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367400.8:c.799_800delinsA"
          },
          "RefSeq": {
            "hgvs": "NM_201253.3:c.799_800delinsA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356370.3:p.Ala267ThrfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_957705.1:p.Ala267ThrfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 935,
          "referenceAllele": "GC",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000638467.1:c.799_800delinsA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491102.1:p.Ala267ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764542"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "endIntronDirection": "-",
          "endIntronOffset": 12402,
          "referenceAllele": "GC",
          "start": 652,
          "startIntronDirection": "-",
          "startIntronOffset": 12404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000367399.6:c.653-12404_653-12403delinsA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356369.2:n.653-12404_653-12403delinsA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266365"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 935,
          "referenceAllele": "GC",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000367400.7:c.799_800delinsA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356370.3:p.Ala267ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266366"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 937,
          "referenceAllele": "GC",
          "start": 935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000475659.1:n.936_937delinsA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316891"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 935,
          "referenceAllele": "GC",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000484075.5:c.799_800delinsA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433932.1:p.Ala267ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1009,
          "referenceAllele": "GC",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000535699.5:c.592_593delinsA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438786.1:p.Ala198ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359878"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1009,
          "referenceAllele": "GC",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000538660.5:c.799_800delinsA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438091.1:p.Ala267ThrfsTer?",
        "hgvsWellDefined": "ENSP00000438091.1:p.[Ala267_Gly274delinsThrValAsnLeuValSerMetGlu;Leu276del;Asp279_Gly280delinsTrpMet;Asn282_Thr294delinsLysThrAspIleAlaValThrAlaArgValValAspSerGln;Thr296His]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361440"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 861,
          "endIntronDirection": "-",
          "endIntronOffset": 12402,
          "referenceAllele": "GC",
          "start": 861,
          "startIntronDirection": "-",
          "startIntronOffset": 12404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001193640.1:c.653-12404_653-12403delinsA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180569.1:n.653-12404_653-12403delinsA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016470"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 932,
          "referenceAllele": "GC",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001257965.1:c.592_593delinsA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244894.1:p.Ala198ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019649"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1009,
          "referenceAllele": "GC",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001257966.1:c.799_800delinsA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244895.1:p.Ala267ThrfsTer?",
        "hgvsWellDefined": "NP_001244895.1:p.[Ala267_Gly274delinsThrValAsnLeuValSerMetGlu;Leu276del;Asp279_Gly280delinsTrpMet;Asn282_Thr294delinsLysThrAspIleAlaValThrAlaArgValValAspSerGln;Thr296His]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019650"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1009,
          "referenceAllele": "GC",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_201253.2:c.799_800delinsA"
      ],
      "proteinEffect": {
        "hgvs": "NP_957705.1:p.Ala267ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044977"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1009,
          "referenceAllele": "GC",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NR_047563.1:n.1008_1009delinsA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1009,
          "referenceAllele": "GC",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NR_047564.1:n.1008_1009delinsA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 934,
          "referenceAllele": "GC",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509365.1:c.799_800delinsA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507667.1:p.Ala267ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076633"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 934,
          "referenceAllele": "GC",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509366.1:c.799_800delinsA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507668.1:p.Ala267ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076634"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 934,
          "referenceAllele": "GC",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509367.1:c.799_800delinsA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507669.1:p.Ala267ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076635"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 383,
          "referenceAllele": "GC",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509368.1:c.217_218delinsA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507670.1:p.Ala73ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076636"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 934,
          "referenceAllele": "GC",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509365.2:c.799_800delinsA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507667.1:p.Ala267ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541251"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 841,
          "referenceAllele": "GC",
          "start": 839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_017000851.1:c.96_97delinsA"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856340.1:p.Pro33GlnfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557131"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 934,
          "referenceAllele": "GC",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_017000852.1:c.799_800delinsA"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856341.1:p.Ala267ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557132"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 961,
          "referenceAllele": "GC",
          "start": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_201253.3:c.799_800delinsA"
      ],
      "proteinEffect": {
        "hgvs": "NP_957705.1:p.Ala267ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367400.8:c.799_800delinsA"
          },
          "RefSeq": {
            "hgvs": "NM_201253.3:c.799_800delinsA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356370.3:p.Ala267ThrfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_957705.1:p.Ala267ThrfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 813,
          "endIntronDirection": "-",
          "endIntronOffset": 12402,
          "referenceAllele": "GC",
          "start": 813,
          "startIntronDirection": "-",
          "startIntronOffset": 12404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001193640.2:c.653-12404_653-12403delinsA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180569.1:n.653-12404_653-12403delinsA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679252"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 890,
          "referenceAllele": "GC",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001257965.2:c.592_593delinsA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244894.1:p.Ala198ThrfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 961,
          "referenceAllele": "GC",
          "start": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NR_047563.2:n.960_961delinsA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702513"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 961,
          "referenceAllele": "GC",
          "start": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NR_047564.2:n.960_961delinsA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702514"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 961,
          "referenceAllele": "GC",
          "start": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001257966.2:c.799_800delinsA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244895.1:p.Ala267ThrfsTer?",
        "hgvsWellDefined": "NP_001244895.1:p.[Ala267_Gly274delinsThrValAsnLeuValSerMetGlu;Leu276del;Asp279_Gly280delinsTrpMet;Asn282_Thr294delinsLysThrAspIleAlaValThrAlaArgValValAspSerGln;Thr296His]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714892"
    }
  ],
  "type": "nucleotide"
}