{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16043771",
  "communityStandardTitle": [
    "NM_001378454.1(ALMS1):c.8414dup (p.Gln2807SerfsTer17)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=361393[alleleid]",
        "alleleId": 361393,
        "preferredName": "NM_001378454.1(ALMS1):c.8414dup (p.Gln2807fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/374507",
        "RCV": [
          "RCV000416189"
        ],
        "variationId": 374507
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519133",
        "rs": 1057519133
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 73490373,
          "referenceAllele": "",
          "start": 73490373
        }
      ],
      "hgvs": [
        "NC_000002.12:g.73490373dup",
        "CM000664.2:g.73490373dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 73717500,
          "referenceAllele": "",
          "start": 73717500
        }
      ],
      "hgvs": [
        "NC_000002.11:g.73717500dup",
        "CM000664.1:g.73717500dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 73571008,
          "referenceAllele": "",
          "start": 73571008
        }
      ],
      "hgvs": [
        "NC_000002.10:g.73571008dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 109621,
          "referenceAllele": "",
          "start": 109621
        }
      ],
      "hgvs": [
        "NG_011690.1:g.109621dup",
        "LRG_741:g.109621dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001901"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8033,
          "referenceAllele": "",
          "start": 8033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000428",
      "geneNCBI_id": 7840,
      "geneSymbol": "ALMS1",
      "hgvs": [
        "ENST00000682565.1:c.8033dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507671.1:p.Gln2680SerfsTer17"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827555"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8033,
          "referenceAllele": "",
          "start": 8033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000428",
      "geneNCBI_id": 7840,
      "geneSymbol": "ALMS1",
      "hgvs": [
        "ENST00000682801.1:c.8033dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507862.1:p.Gln2680SerfsTer17"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827790"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8033,
          "referenceAllele": "",
          "start": 8033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000428",
      "geneNCBI_id": 7840,
      "geneSymbol": "ALMS1",
      "hgvs": [
        "ENST00000682859.1:c.8033dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508222.1:p.Gln2680SerfsTer17"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827847"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1425,
          "referenceAllele": "",
          "start": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000428",
      "geneNCBI_id": 7840,
      "geneSymbol": "ALMS1",
      "hgvs": [
        "ENST00000683791.1:c.1425dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828762"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5485,
          "referenceAllele": "",
          "start": 5485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000428",
      "geneNCBI_id": 7840,
      "geneSymbol": "ALMS1",
      "hgvs": [
        "ENST00000684460.1:c.5485dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829414"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8033,
          "referenceAllele": "",
          "start": 8033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000428",
      "geneNCBI_id": 7840,
      "geneSymbol": "ALMS1",
      "hgvs": [
        "ENST00000684548.1:c.8033dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507421.1:p.Gln2680SerfsTer17"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829501"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2480,
          "referenceAllele": "",
          "start": 2480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000428",
      "geneNCBI_id": 7840,
      "geneSymbol": "ALMS1",
      "hgvs": [
        "ENST00000684590.1:c.2480dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507376.1:p.Gln829SerfsTer17"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829542"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5485,
          "referenceAllele": "",
          "start": 5485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000428",
      "geneNCBI_id": 7840,
      "geneSymbol": "ALMS1",
      "hgvs": [
        "ENST00000684656.1:c.5485dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829607"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8447,
          "referenceAllele": "",
          "start": 8447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000428",
      "geneNCBI_id": 7840,
      "geneSymbol": "ALMS1",
      "hgvs": [
        "ENST00000613296.6:c.8414dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482968.1:p.Gln2807SerfsTer17"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761916",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000613296.6:c.8414dup"
          },
          "RefSeq": {
            "hgvs": "NM_001378454.1:c.8414dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000482968.1:p.Gln2807SerfsTer17"
          },
          "RefSeq": {
            "hgvs": "NP_001365383.1:p.Gln2807SerfsTer17"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 895,
          "endIntronDirection": "-",
          "endIntronOffset": 29401,
          "referenceAllele": "",
          "start": 895,
          "startIntronDirection": "-",
          "startIntronOffset": 29401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000428",
      "geneNCBI_id": 7840,
      "geneSymbol": "ALMS1",
      "hgvs": [
        "ENST00000651434.1:c.896-29402dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771665"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3030,
          "endIntronDirection": "+",
          "endIntronOffset": 215,
          "referenceAllele": "",
          "start": 3030,
          "startIntronDirection": "+",
          "startIntronOffset": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000428",
      "geneNCBI_id": 7840,
      "geneSymbol": "ALMS1",
      "hgvs": [
        "ENST00000423048.5:c.3030+215dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399833.1:n.3030+215dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287567"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8399,
          "referenceAllele": "",
          "start": 8399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000428",
      "geneNCBI_id": 7840,
      "geneSymbol": "ALMS1",
      "hgvs": [
        "ENST00000484298.5:c.8288dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478155.1:p.Gln2765SerfsTer17"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323577"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8525,
          "referenceAllele": "",
          "start": 8525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000428",
      "geneNCBI_id": 7840,
      "geneSymbol": "ALMS1",
      "hgvs": [
        "ENST00000613296.4:c.8414dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482968.1:p.Gln2807SerfsTer17"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401686"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8414,
          "referenceAllele": "",
          "start": 8414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000428",
      "geneNCBI_id": 7840,
      "geneSymbol": "ALMS1",
      "hgvs": [
        "ENST00000614410.4:c.8414dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479094.1:p.Gln2807SerfsTer17"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402179"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2217,
          "referenceAllele": "",
          "start": 2217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000428",
      "geneNCBI_id": 7840,
      "geneSymbol": "ALMS1",
      "hgvs": [
        "ENST00000620466.4:n.2217dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS404845"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8528,
          "referenceAllele": "",
          "start": 8528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000428",
      "geneNCBI_id": 7840,
      "geneSymbol": "ALMS1",
      "hgvs": [
        "NM_015120.4:c.8417dup",
        "LRG_741t1:c.8417dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_055935.4:p.Gln2808SerfsTer17"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033756"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8447,
          "referenceAllele": "",
          "start": 8447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000428",
      "geneNCBI_id": 7840,
      "geneSymbol": "ALMS1",
      "hgvs": [
        "NM_001378454.1:c.8414dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365383.1:p.Gln2807SerfsTer17"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721706",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000613296.6:c.8414dup"
          },
          "RefSeq": {
            "hgvs": "NM_001378454.1:c.8414dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000482968.1:p.Gln2807SerfsTer17"
          },
          "RefSeq": {
            "hgvs": "NP_001365383.1:p.Gln2807SerfsTer17"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}