{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1435772130",
  "communityStandardTitle": [
    "NM_006005.3(WFS1):c.2171C= (p.Pro724=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28937890",
        "rs": 28937890
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 6301966,
          "referenceAllele": "C",
          "start": 6301965
        }
      ],
      "hgvs": [
        "NC_000004.12:g.6301966C=",
        "CM000666.2:g.6301966C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 6303693,
          "referenceAllele": "C",
          "start": 6303692
        }
      ],
      "hgvs": [
        "NC_000004.11:g.6303693C=",
        "CM000666.1:g.6303693C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 6354594,
          "referenceAllele": "C",
          "start": 6354593
        }
      ],
      "hgvs": [
        "NC_000004.10:g.6354594C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 37117,
          "referenceAllele": "C",
          "start": 37116
        }
      ],
      "hgvs": [
        "NG_011700.1:g.37117C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001909"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2377,
          "referenceAllele": "C",
          "start": 2376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000682275.1:c.2207C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507852.1:p.Pro736="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827270"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2148,
          "referenceAllele": "C",
          "start": 2147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000683395.1:c.2148C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828374"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2318,
          "referenceAllele": "C",
          "start": 2317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000684087.1:c.2171C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506978.1:p.Pro724="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829046"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1977,
          "referenceAllele": "C",
          "start": 1976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000506362.2:c.1922C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424103.2:p.Pro641="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758078"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1830,
          "referenceAllele": "C",
          "start": 1829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000673642.1:c.1830C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501242.1:n.1830C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773751"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2374,
          "referenceAllele": "C",
          "start": 2373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000673991.1:c.2207C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501033.1:p.Pro736="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774029"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2341,
          "referenceAllele": "C",
          "start": 2340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000226760.5:c.2171C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000226760.1:p.Pro724="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000226760.5:c.2171C="
          },
          "RefSeq": {
            "hgvs": "NM_006005.3:c.2171C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000226760.1:p.Pro724="
          },
          "RefSeq": {
            "hgvs": "NP_005996.2:p.Pro724="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2338,
          "referenceAllele": "C",
          "start": 2337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000503569.5:c.2171C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423337.1:p.Pro724="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335845"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2356,
          "referenceAllele": "C",
          "start": 2355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000507765.1:n.2356C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338969"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825920510",
      "coordinates": [
        {
          "allele": "C",
          "end": 2337,
          "referenceAllele": "C",
          "start": 2336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "NM_001145853.1:c.2171C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001139325.1:p.Pro724="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013791"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829621018",
      "coordinates": [
        {
          "allele": "C",
          "end": 2341,
          "referenceAllele": "C",
          "start": 2340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "NM_006005.3:c.2171C="
      ],
      "proteinEffect": {
        "hgvs": "NP_005996.2:p.Pro724="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031051",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000226760.5:c.2171C="
          },
          "RefSeq": {
            "hgvs": "NM_006005.3:c.2171C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000226760.1:p.Pro724="
          },
          "RefSeq": {
            "hgvs": "NP_005996.2:p.Pro724="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2320,
          "referenceAllele": "C",
          "start": 2319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "XM_017008586.1:c.2180C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016864075.1:p.Pro727="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563066"
    }
  ],
  "type": "nucleotide"
}