{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA275475",
  "communityStandardTitle": [
    "NM_006493.4(CLN5):c.371del (p.Ser124IlefsTer3)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=198634[alleleid]",
        "alleleId": 198634,
        "preferredName": "NM_006493.4(CLN5):c.371del (p.Ser124fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/202192",
        "RCV": [
          "RCV000989150"
        ],
        "variationId": 202192
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.77570068del?assembly=hg19",
        "id": "chr13:g.77570068del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.76995933del?assembly=hg38",
        "id": "chr13:g.76995933del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/794729218",
        "rs": 794729218
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "",
          "end": 76995933,
          "referenceAllele": "G",
          "start": 76995932
        }
      ],
      "hgvs": [
        "NC_000013.11:g.76995933del",
        "CM000675.2:g.76995933del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "",
          "end": 77570068,
          "referenceAllele": "G",
          "start": 77570067
        }
      ],
      "hgvs": [
        "NC_000013.10:g.77570068del",
        "CM000675.1:g.77570068del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "",
          "end": 76468069,
          "referenceAllele": "G",
          "start": 76468068
        }
      ],
      "hgvs": [
        "NC_000013.9:g.76468069del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 9010,
          "referenceAllele": "G",
          "start": 9009
        }
      ],
      "hgvs": [
        "NG_009064.1:g.9010del",
        "LRG_692:g.9010del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001406"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000377453.9:c.371del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366673.5:p.Ser124IlefsTer3",
        "hgvsWellDefined": "ENSP00000366673.5:p.[Ser124_Pro147delinsIle;Leu149_Met153del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751919",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377453.9:c.371del"
          },
          "RefSeq": {
            "hgvs": "NM_006493.4:c.371del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366673.5:p.Ser124IlefsTer3"
          },
          "RefSeq": {
            "hgvs": "NP_006484.2:p.Ser124IlefsTer3"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 411,
          "referenceAllele": "G",
          "start": 410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000485938.4:c.371del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482959.3:p.Ser124IlefsTer3",
        "hgvsWellDefined": "ENSP00000482959.3:p.[Ser124_Pro147delinsIle;Leu149_Met153del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757521"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 379,
          "referenceAllele": "G",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000616833.6:c.371del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479547.3:p.Ser124IlefsTer3",
        "hgvsWellDefined": "ENSP00000479547.3:p.[Ser124_Pro147delinsIle;Leu149_Met153del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762081"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 372,
          "referenceAllele": "G",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000635905.1:n.372del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762724"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 369,
          "referenceAllele": "G",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000635915.1:c.369del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762732"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 438,
          "referenceAllele": "G",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000635989.1:n.438del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762788"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1810,
          "referenceAllele": "G",
          "start": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636183.2:c.371del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490181.2:p.Ser124IlefsTer3",
        "hgvsWellDefined": "ENSP00000490181.2:p.[Ser124_Pro147delinsIle;Leu149_Met153del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762933"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1883,
          "referenceAllele": "G",
          "start": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636520.1:n.1883del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763177"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 374,
          "referenceAllele": "G",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636525.2:c.371del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490078.2:p.Ser124IlefsTer3",
        "hgvsWellDefined": "ENSP00000490078.2:p.[Ser124_Pro147delinsIle;Leu149_Met153del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763182"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 317,
          "referenceAllele": "G",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636602.1:n.317del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763242"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 723,
          "referenceAllele": "G",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636681.1:c.*62del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489922.1:n.*62del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763305"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 207,
          "referenceAllele": "G",
          "start": 206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636705.1:c.207del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763321"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 372,
          "referenceAllele": "G",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636767.2:c.371del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489855.2:p.Ser124IlefsTer3",
        "hgvsWellDefined": "ENSP00000489855.2:p.[Ser124_Pro147delinsIle;Leu149_Met153del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763364"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 426,
          "referenceAllele": "G",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636780.2:c.371del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489809.2:p.Ser124IlefsTer3",
        "hgvsWellDefined": "ENSP00000489809.2:p.[Ser124_Pro147delinsIle;Leu149_Met153del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763375"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 19,
          "referenceAllele": "G",
          "start": 18
        }
      ],
      "hgvs": [
        "ENST00000637192.1:c.19del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763681"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 697,
          "referenceAllele": "G",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000637278.1:n.697del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763748"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 383,
          "referenceAllele": "G",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000637397.2:c.371del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490422.2:p.Ser124IlefsTer3",
        "hgvsWellDefined": "ENSP00000490422.2:p.[Ser124_Pro147delinsIle;Leu149_Met153del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763836"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 392,
          "referenceAllele": "G",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000637537.2:c.371del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489711.2:p.Ser124IlefsTer3",
        "hgvsWellDefined": "ENSP00000489711.2:p.[Ser124_Pro147delinsIle;Leu149_Met153del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763931"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 392,
          "referenceAllele": "G",
          "start": 391
        }
      ],
      "hgvs": [
        "ENST00000638147.2:c.371del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490953.2:p.Ser124IlefsTer3",
        "hgvsWellDefined": "ENSP00000490953.2:p.[Ser124_Pro147delinsIle;Leu149_Met153del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764377"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1810,
          "referenceAllele": "G",
          "start": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000377453.7:c.518del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366673.3:p.Ser173IlefsTer3",
        "hgvsWellDefined": "ENSP00000366673.3:p.[Ser173_Pro196delinsIle;Leu198_Met202del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271604"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 173,
          "endIntronDirection": "-",
          "endIntronOffset": 2981,
          "referenceAllele": "C",
          "start": 173,
          "startIntronDirection": "-",
          "startIntronOffset": 2982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013599",
      "geneNCBI_id": 26224,
      "geneSymbol": "FBXL3",
      "hgvs": [
        "ENST00000485797.2:n.174-2982del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324744"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 354,
          "referenceAllele": "G",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000485938.2:c.354del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324853"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 386,
          "referenceAllele": "G",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000616833.4:c.371del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479547.1:p.Ser124IlefsTer3",
        "hgvsWellDefined": "ENSP00000479547.1:p.[Ser124_Pro147delinsIle;Leu149_Met153del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403223"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 546,
          "referenceAllele": "G",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_006493.2:c.518del",
        "LRG_692t1:c.518del"
      ],
      "proteinEffect": {
        "hgvs": "NP_006484.1:p.Ser173IlefsTer3",
        "hgvsWellDefined": "NP_006484.1:p.[Ser173_Pro196delinsIle;Leu198_Met202del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031503"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 533,
          "referenceAllele": "G",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "XM_011534917.1:c.518del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533219.1:p.Ser173IlefsTer3",
        "hgvsWellDefined": "XP_011533219.1:p.[Ser173_Pro196delinsIle;Leu198_Met202del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101928"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_001366624.1:c.371del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353553.1:p.Ser124IlefsTer3",
        "hgvsWellDefined": "NP_001353553.1:p.[Ser124_Pro147delinsIle;Leu149_Met153del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524748"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_006493.3:c.371del"
      ],
      "proteinEffect": {
        "hgvs": "NP_006484.2:p.Ser124IlefsTer3",
        "hgvsWellDefined": "NP_006484.2:p.[Ser124_Pro147delinsIle;Leu149_Met153del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525406"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 982,
          "endIntronDirection": "-",
          "endIntronOffset": 2981,
          "referenceAllele": "C",
          "start": 982,
          "startIntronDirection": "-",
          "startIntronOffset": 2982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013599",
      "geneNCBI_id": 26224,
      "geneSymbol": "FBXL3",
      "hgvs": [
        "XM_017020538.2:c.644-2982del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876027.1:n.644-2982del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572004"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_001366624.2:c.371del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353553.1:p.Ser124IlefsTer3",
        "hgvsWellDefined": "NP_001353553.1:p.[Ser124_Pro147delinsIle;Leu149_Met153del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691217"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_006493.4:c.371del"
      ],
      "proteinEffect": {
        "hgvs": "NP_006484.2:p.Ser124IlefsTer3",
        "hgvsWellDefined": "NP_006484.2:p.[Ser124_Pro147delinsIle;Leu149_Met153del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696728",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377453.9:c.371del"
          },
          "RefSeq": {
            "hgvs": "NM_006493.4:c.371del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366673.5:p.Ser124IlefsTer3"
          },
          "RefSeq": {
            "hgvs": "NP_006484.2:p.Ser124IlefsTer3"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}