{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16614023",
  "communityStandardTitle": [
    "NM_000321.3(RB1):c.2194_2197del (p.Pro732MetfsTer11)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=399482[alleleid]",
        "alleleId": 399482,
        "preferredName": "NM_000321.3(RB1):c.2194_2197del (p.Pro732fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/410922",
        "RCV": [
          "RCV000476967"
        ],
        "variationId": 410922
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.49037954_49037957del?assembly=hg19",
        "id": "chr13:g.49037954_49037957del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.48463818_48463821del?assembly=hg38",
        "id": "chr13:g.48463818_48463821del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060503075",
        "rs": 1060503075
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "",
          "end": 48463821,
          "referenceAllele": "CCTC",
          "start": 48463817
        }
      ],
      "hgvs": [
        "NC_000013.11:g.48463818_48463821del",
        "CM000675.2:g.48463818_48463821del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "",
          "end": 49037957,
          "referenceAllele": "CCTC",
          "start": 49037953
        }
      ],
      "hgvs": [
        "NC_000013.10:g.49037954_49037957del",
        "CM000675.1:g.49037954_49037957del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "",
          "end": 47935958,
          "referenceAllele": "CCTC",
          "start": 47935954
        }
      ],
      "hgvs": [
        "NC_000013.9:g.47935955_47935958del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 165075,
          "referenceAllele": "CCTC",
          "start": 165071
        }
      ],
      "hgvs": [
        "NG_009009.1:g.165072_165075del",
        "LRG_517:g.165072_165075del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001377"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2359,
          "referenceAllele": "CCTC",
          "start": 2355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000267163.6:c.2194_2197del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267163.4:p.Pro732MetfsTer11",
        "hgvsWellDefined": "ENSP00000267163.4:p.[Pro732_Thr738delinsMetLeu;Lys740Arg;Val742_Asp750delinsHis;Ile752_Tyr756del;Ser758del;Met761_Gln762del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742979",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267163.6:c.2194_2197del"
          },
          "RefSeq": {
            "hgvs": "NM_000321.3:c.2194_2197del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267163.4:p.Pro732MetfsTer11"
          },
          "RefSeq": {
            "hgvs": "NP_000312.2:p.Pro732MetfsTer11"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 194,
          "endIntronDirection": "+",
          "endIntronOffset": 82378,
          "referenceAllele": "CCTC",
          "start": 194,
          "startIntronDirection": "+",
          "startIntronOffset": 82374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000643064.1:c.194+82375_194+82378del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767072"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2363,
          "referenceAllele": "CCTC",
          "start": 2359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000650461.1:c.2194_2197del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497193.1:p.Pro732MetfsTer11",
        "hgvsWellDefined": "ENSP00000497193.1:p.[Pro732_Thr738delinsMetLeu;Lys740Arg;Val742_Asp750delinsHis;Ile752_Tyr756del;Ser758del;Met761_Gln762del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771130"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2335,
          "referenceAllele": "CCTC",
          "start": 2331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000267163.4:c.2194_2197del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267163.4:p.Pro732MetfsTer11",
        "hgvsWellDefined": "ENSP00000267163.4:p.[Pro732_Thr738delinsMetLeu;Lys740Arg;Val742_Asp750delinsHis;Ile752_Tyr756del;Ser758del;Met761_Gln762del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247284"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2363,
          "referenceAllele": "CCTC",
          "start": 2359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "NM_000321.2:c.2194_2197del",
        "LRG_517t1:c.2194_2197del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000312.2:p.Pro732MetfsTer11",
        "hgvsWellDefined": "NP_000312.2:p.[Pro732_Thr738delinsMetLeu;Lys740Arg;Val742_Asp750delinsHis;Ile752_Tyr756del;Ser758del;Met761_Gln762del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006385"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1951,
          "referenceAllele": "CCTC",
          "start": 1947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "XM_011535171.1:c.1933_1936del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533473.1:p.Pro645MetfsTer11",
        "hgvsWellDefined": "XP_011533473.1:p.[Pro645_Thr651delinsMetLeu;Lys653Arg;Val655_Asp663delinsHis;Ile665_Tyr669del;Ser671del;Met674_Gln675del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102180"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1952,
          "referenceAllele": "CCTC",
          "start": 1948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "XM_011535171.2:c.1933_1936del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533473.1:p.Pro645MetfsTer11",
        "hgvsWellDefined": "XP_011533473.1:p.[Pro645_Thr651delinsMetLeu;Lys653Arg;Val655_Asp663delinsHis;Ile665_Tyr669del;Ser671del;Met674_Gln675del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551929"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2359,
          "referenceAllele": "CCTC",
          "start": 2355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "NM_000321.3:c.2194_2197del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000312.2:p.Pro732MetfsTer11",
        "hgvsWellDefined": "NP_000312.2:p.[Pro732_Thr738delinsMetLeu;Lys740Arg;Val742_Asp750delinsHis;Ile752_Tyr756del;Ser758del;Met761_Gln762del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710824",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267163.6:c.2194_2197del"
          },
          "RefSeq": {
            "hgvs": "NM_000321.3:c.2194_2197del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267163.4:p.Pro732MetfsTer11"
          },
          "RefSeq": {
            "hgvs": "NP_000312.2:p.Pro732MetfsTer11"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}