{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA263878",
  "communityStandardTitle": [
    "NM_006493.4(CLN5):c.936del (p.Phe312LeufsTer4)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=71167[alleleid]",
        "alleleId": 71167,
        "preferredName": "NM_006493.4(CLN5):c.936del (p.Phe312fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/56528",
        "RCV": [
          "RCV000049941",
          "RCV000803462"
        ],
        "variationId": 56528
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.77574963del?assembly=hg19",
        "id": "chr13:g.77574963del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.77574959del?assembly=hg19",
        "id": "chr13:g.77574959del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.77000828del?assembly=hg38",
        "id": "chr13:g.77000828del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.77000824del?assembly=hg38",
        "id": "chr13:g.77000824del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/386833966",
        "rs": 386833966
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-77574958-AT-A?dataset=gnomad_r2_1",
        "id": "13-77574958-AT-A",
        "variant": "13:77574958 AT / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-77000823-AT-A?dataset=gnomad_r3",
        "id": "13-77000823-AT-A",
        "variant": "13:77000823 AT / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-77000823-AT-A?dataset=gnomad_r4",
        "id": "13-77000823-AT-A",
        "variant": "13:77000823 AT / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "",
          "end": 77000828,
          "referenceAllele": "T",
          "start": 77000827
        }
      ],
      "hgvs": [
        "NC_000013.11:g.77000828del",
        "CM000675.2:g.77000828del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "",
          "end": 77574963,
          "referenceAllele": "T",
          "start": 77574962
        }
      ],
      "hgvs": [
        "NC_000013.10:g.77574963del",
        "CM000675.1:g.77574963del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "",
          "end": 76472964,
          "referenceAllele": "T",
          "start": 76472963
        }
      ],
      "hgvs": [
        "NC_000013.9:g.76472964del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 13905,
          "referenceAllele": "T",
          "start": 13904
        }
      ],
      "hgvs": [
        "NG_009064.1:g.13905del",
        "LRG_692:g.13905del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001406"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 954,
          "referenceAllele": "T",
          "start": 953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000377453.9:c.936del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366673.5:p.Phe312LeufsTer4",
        "hgvsWellDefined": "ENSP00000366673.5:p.[Phe312_Tyr322del;Phe324_Pro333del;Lys335_Thr342delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751919",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377453.9:c.936del"
          },
          "RefSeq": {
            "hgvs": "NM_006493.4:c.936del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366673.5:p.Phe312LeufsTer4"
          },
          "RefSeq": {
            "hgvs": "NP_006484.2:p.Phe312LeufsTer4"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1010,
          "referenceAllele": "T",
          "start": 1009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000616833.6:c.*378del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479547.3:n.*378del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762081"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 174,
          "endIntronDirection": "+",
          "endIntronOffset": 4701,
          "referenceAllele": "T",
          "start": 174,
          "startIntronDirection": "+",
          "startIntronOffset": 4700
        }
      ],
      "hgvs": [
        "ENST00000635838.1:c.174+4701del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762675"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 566,
          "endIntronDirection": "+",
          "endIntronOffset": 4701,
          "referenceAllele": "T",
          "start": 566,
          "startIntronDirection": "+",
          "startIntronOffset": 4700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000635905.1:n.566+4701del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762724"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 934,
          "referenceAllele": "T",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000635915.1:c.934del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762732"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2375,
          "referenceAllele": "T",
          "start": 2374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636183.2:c.936del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490181.2:p.Phe312LeufsTer4",
        "hgvsWellDefined": "ENSP00000490181.2:p.[Phe312_Tyr322del;Phe324_Pro333del;Lys335_Thr342delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762933"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 568,
          "endIntronDirection": "+",
          "endIntronOffset": 4701,
          "referenceAllele": "T",
          "start": 568,
          "startIntronDirection": "+",
          "startIntronOffset": 4700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636525.2:c.565+4701del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490078.2:n.565+4701del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763182"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1288,
          "referenceAllele": "T",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636681.1:c.*627del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489922.1:n.*627del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763305"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 772,
          "referenceAllele": "T",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636705.1:c.772del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763321"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 566,
          "endIntronDirection": "+",
          "endIntronOffset": 4701,
          "referenceAllele": "T",
          "start": 566,
          "startIntronDirection": "+",
          "startIntronOffset": 4700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636767.2:c.565+4701del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489855.2:n.565+4701del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763364"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1034,
          "referenceAllele": "T",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636780.2:c.*385del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489809.2:n.*385del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763375"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 213,
          "endIntronDirection": "+",
          "endIntronOffset": 4701,
          "referenceAllele": "T",
          "start": 213,
          "startIntronDirection": "+",
          "startIntronOffset": 4700
        }
      ],
      "hgvs": [
        "ENST00000637192.1:c.213+4701del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763681"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1262,
          "referenceAllele": "T",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000637278.1:n.1262del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763748"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 577,
          "endIntronDirection": "+",
          "endIntronOffset": 4701,
          "referenceAllele": "T",
          "start": 577,
          "startIntronDirection": "+",
          "startIntronOffset": 4700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000637397.2:c.565+4701del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490422.2:n.565+4701del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763836"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 169,
          "endIntronDirection": "+",
          "endIntronOffset": 4701,
          "referenceAllele": "T",
          "start": 169,
          "startIntronDirection": "+",
          "startIntronOffset": 4700
        }
      ],
      "hgvs": [
        "ENST00000638101.1:c.169+4701del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490535.1:n.169+4701del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764342"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 586,
          "endIntronDirection": "+",
          "endIntronOffset": 4701,
          "referenceAllele": "T",
          "start": 586,
          "startIntronDirection": "+",
          "startIntronOffset": 4700
        }
      ],
      "hgvs": [
        "ENST00000638147.2:c.565+4701del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490953.2:n.565+4701del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764377"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2375,
          "referenceAllele": "T",
          "start": 2374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000377453.7:c.1083del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366673.3:p.Phe361LeufsTer4",
        "hgvsWellDefined": "ENSP00000366673.3:p.[Phe361_Tyr371del;Phe373_Pro382del;Lys384_Thr391delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271604"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1485,
          "referenceAllele": "A",
          "start": 1484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013599",
      "geneNCBI_id": 26224,
      "geneSymbol": "FBXL3",
      "hgvs": [
        "ENST00000477982.2:n.1485del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318680"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 173,
          "endIntronDirection": "-",
          "endIntronOffset": 7872,
          "referenceAllele": "A",
          "start": 173,
          "startIntronDirection": "-",
          "startIntronOffset": 7873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013599",
      "geneNCBI_id": 26224,
      "geneSymbol": "FBXL3",
      "hgvs": [
        "ENST00000485797.2:n.174-7873del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324744"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 951,
          "referenceAllele": "T",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000616833.4:c.936del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479547.1:p.Phe312LeufsTer4",
        "hgvsWellDefined": "ENSP00000479547.1:p.[Phe312_Tyr322del;Phe324_Pro333del;Lys335_Thr342delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403223"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1111,
          "referenceAllele": "T",
          "start": 1110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_006493.2:c.1083del",
        "LRG_692t1:c.1083del"
      ],
      "proteinEffect": {
        "hgvs": "NP_006484.1:p.Phe361LeufsTer4",
        "hgvsWellDefined": "NP_006484.1:p.[Phe361_Tyr371del;Phe373_Pro382del;Lys384_Thr391delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031503"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 997,
          "referenceAllele": "T",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_001366624.1:c.*385del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353553.1:n.*385del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524748"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 954,
          "referenceAllele": "T",
          "start": 953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_006493.3:c.936del"
      ],
      "proteinEffect": {
        "hgvs": "NP_006484.2:p.Phe312LeufsTer4",
        "hgvsWellDefined": "NP_006484.2:p.[Phe312_Tyr322del;Phe324_Pro333del;Lys335_Thr342delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525406"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 982,
          "endIntronDirection": "-",
          "endIntronOffset": 7872,
          "referenceAllele": "A",
          "start": 982,
          "startIntronDirection": "-",
          "startIntronOffset": 7873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013599",
      "geneNCBI_id": 26224,
      "geneSymbol": "FBXL3",
      "hgvs": [
        "XM_017020538.2:c.644-7873del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876027.1:n.644-7873del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572004"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 997,
          "referenceAllele": "T",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_001366624.2:c.*385del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353553.1:n.*385del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691217"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 954,
          "referenceAllele": "T",
          "start": 953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_006493.4:c.936del"
      ],
      "proteinEffect": {
        "hgvs": "NP_006484.2:p.Phe312LeufsTer4",
        "hgvsWellDefined": "NP_006484.2:p.[Phe312_Tyr322del;Phe324_Pro333del;Lys335_Thr342delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696728",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377453.9:c.936del"
          },
          "RefSeq": {
            "hgvs": "NM_006493.4:c.936del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366673.5:p.Phe312LeufsTer4"
          },
          "RefSeq": {
            "hgvs": "NP_006484.2:p.Phe312LeufsTer4"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}