{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3017622662",
  "communityStandardTitle": [
    "NM_018941.4(CLN8):c.158dup (p.Tyr53Ter)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 1771212,
          "referenceAllele": "",
          "start": 1771212
        }
      ],
      "hgvs": [
        "NC_000008.11:g.1771212dup",
        "CM000670.2:g.1771212dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 1719378,
          "referenceAllele": "",
          "start": 1719378
        }
      ],
      "hgvs": [
        "NC_000008.10:g.1719378dup",
        "CM000670.1:g.1719378dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 1706785,
          "referenceAllele": "",
          "start": 1706785
        }
      ],
      "hgvs": [
        "NC_000008.9:g.1706785dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 20435,
          "referenceAllele": "",
          "start": 20435
        }
      ],
      "hgvs": [
        "NG_008656.2:g.20435dup",
        "LRG_691:g.20435dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001149"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 378,
          "referenceAllele": "",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000331222.6:c.158dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328182.4:p.Tyr53Ter",
        "hgvsWellDefined": "ENSP00000328182.4:p.Tyr53_Leu82del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747132",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331222.6:c.158dup"
          },
          "RefSeq": {
            "hgvs": "NM_018941.4:c.158dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000328182.4:p.Tyr53Ter"
          },
          "RefSeq": {
            "hgvs": "NP_061764.2:p.Tyr53Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 333,
          "referenceAllele": "",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000519254.2:c.158dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490016.1:p.Tyr53Ter",
        "hgvsWellDefined": "ENSP00000490016.1:p.Tyr53_Leu82del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758642"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 335,
          "referenceAllele": "",
          "start": 335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000520991.3:c.158dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487905.2:p.Tyr53Ter",
        "hgvsWellDefined": "ENSP00000487905.2:p.Tyr53_Leu82del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758710"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 586,
          "referenceAllele": "",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000524258.2:c.158dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488898.2:p.Tyr53Ter",
        "hgvsWellDefined": "ENSP00000488898.2:p.Tyr53_Leu82del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758843"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 446,
          "referenceAllele": "",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000635751.1:c.158dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489694.1:p.Tyr53Ter",
        "hgvsWellDefined": "ENSP00000489694.1:p.Tyr53_Leu82del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762614"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 111,
          "referenceAllele": "",
          "start": 111
        }
      ],
      "hgvs": [
        "ENST00000635773.1:c.111dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762632"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 335,
          "referenceAllele": "",
          "start": 335
        }
      ],
      "hgvs": [
        "ENST00000635855.1:c.158dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489726.1:p.Tyr53Ter",
        "hgvsWellDefined": "ENSP00000489726.1:p.Tyr53_Leu82del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 352,
          "referenceAllele": "",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000635970.1:c.158dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490439.1:p.Tyr53Ter",
        "hgvsWellDefined": "ENSP00000490439.1:p.Tyr53_Leu82del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762775"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 367,
          "referenceAllele": "",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000636934.1:c.158dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490218.1:p.Tyr53Ter",
        "hgvsWellDefined": "ENSP00000490218.1:p.Tyr53_Leu82del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763487"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 508,
          "referenceAllele": "",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000637083.1:c.158dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490235.1:p.Tyr53Ter",
        "hgvsWellDefined": "ENSP00000490235.1:p.Tyr53_Leu82del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763598"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 407,
          "referenceAllele": "",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000637156.1:c.158dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490458.1:p.Tyr53Ter",
        "hgvsWellDefined": "ENSP00000490458.1:p.Tyr53_Leu82del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763651"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 332,
          "referenceAllele": "",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000637594.1:c.158dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489999.1:p.Tyr53Ter",
        "hgvsWellDefined": "ENSP00000489999.1:p.Tyr53Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763972"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 405,
          "referenceAllele": "",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000331222.4:c.158dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328182.4:p.Tyr53Ter",
        "hgvsWellDefined": "ENSP00000328182.4:p.Tyr53_Leu82del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259362"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 404,
          "referenceAllele": "",
          "start": 404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000520991.2:c.158dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487905.1:p.Tyr53Ter",
        "hgvsWellDefined": "ENSP00000487905.1:p.Tyr53_Leu82del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347916"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 586,
          "referenceAllele": "",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000524258.1:c.158dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488898.1:p.Tyr53Ter",
        "hgvsWellDefined": "ENSP00000488898.1:p.Tyr53_Ala80del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350461"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580423158",
      "coordinates": [
        {
          "allele": "A",
          "end": 463,
          "referenceAllele": "",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "NM_018941.3:c.158dup",
        "LRG_691t1:c.158dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_061764.2:p.Tyr53Ter",
        "hgvsWellDefined": "NP_061764.2:p.Tyr53_Leu82del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035953"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 407,
          "referenceAllele": "",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_005266021.3:c.158dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266078.1:p.Tyr53Ter",
        "hgvsWellDefined": "XP_005266078.1:p.Tyr53_Leu82del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064891"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 586,
          "referenceAllele": "",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_005266022.1:c.158dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266079.1:p.Tyr53Ter",
        "hgvsWellDefined": "XP_005266079.1:p.Tyr53_Leu82del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 304,
          "referenceAllele": "",
          "start": 304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_005266023.1:c.158dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266080.1:p.Tyr53Ter",
        "hgvsWellDefined": "XP_005266080.1:p.Tyr53_Leu82del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 408,
          "referenceAllele": "",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_011534745.1:c.158dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533047.1:p.Tyr53Ter",
        "hgvsWellDefined": "XP_011533047.1:p.Tyr53_Leu82del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101757"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 304,
          "referenceAllele": "",
          "start": 304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_011534746.1:c.158dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533048.1:p.Tyr53Ter",
        "hgvsWellDefined": "XP_011533048.1:p.Tyr53_Leu82del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101758"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 463,
          "referenceAllele": "",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_011534747.1:c.158dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533049.1:p.Tyr53Ter",
        "hgvsWellDefined": "XP_011533049.1:p.Tyr53_Leu82del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101759"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 317,
          "referenceAllele": "",
          "start": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_005266021.4:c.158dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266078.1:p.Tyr53Ter",
        "hgvsWellDefined": "XP_005266078.1:p.Tyr53_Leu82del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 305,
          "referenceAllele": "",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_011534746.2:c.158dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533048.1:p.Tyr53Ter",
        "hgvsWellDefined": "XP_011533048.1:p.Tyr53_Leu82del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551739"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 407,
          "referenceAllele": "",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_011534747.2:c.158dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533049.1:p.Tyr53Ter",
        "hgvsWellDefined": "XP_011533049.1:p.Tyr53_Leu82del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551740"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580423158",
      "coordinates": [
        {
          "allele": "A",
          "end": 378,
          "referenceAllele": "",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "NM_018941.4:c.158dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_061764.2:p.Tyr53Ter",
        "hgvsWellDefined": "NP_061764.2:p.Tyr53_Leu82del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698107",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331222.6:c.158dup"
          },
          "RefSeq": {
            "hgvs": "NM_018941.4:c.158dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000328182.4:p.Tyr53Ter"
          },
          "RefSeq": {
            "hgvs": "NP_061764.2:p.Tyr53Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}