{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1435772691",
  "communityStandardTitle": [
    "NM_006005.3(WFS1):c.2576G= (p.Arg859=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912618",
        "rs": 121912618
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 6302371,
          "referenceAllele": "G",
          "start": 6302370
        }
      ],
      "hgvs": [
        "NC_000004.12:g.6302371G=",
        "CM000666.2:g.6302371G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 6304098,
          "referenceAllele": "G",
          "start": 6304097
        }
      ],
      "hgvs": [
        "NC_000004.11:g.6304098G=",
        "CM000666.1:g.6304098G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 6354999,
          "referenceAllele": "G",
          "start": 6354998
        }
      ],
      "hgvs": [
        "NC_000004.10:g.6354999G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 37522,
          "referenceAllele": "G",
          "start": 37521
        }
      ],
      "hgvs": [
        "NG_011700.1:g.37522G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001909"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2782,
          "referenceAllele": "G",
          "start": 2781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000682275.1:c.2612G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507852.1:p.Arg871="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827270"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2553,
          "referenceAllele": "G",
          "start": 2552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000683395.1:c.2553G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828374"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2723,
          "referenceAllele": "G",
          "start": 2722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000684087.1:c.2576G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506978.1:p.Arg859="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829046"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2382,
          "referenceAllele": "G",
          "start": 2381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000506362.2:c.2327G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424103.2:p.Arg776="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758078"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2779,
          "referenceAllele": "G",
          "start": 2778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000673991.1:c.2612G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501033.1:p.Arg871="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774029"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2746,
          "referenceAllele": "G",
          "start": 2745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000226760.5:c.2576G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000226760.1:p.Arg859="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000226760.5:c.2576G="
          },
          "RefSeq": {
            "hgvs": "NM_006005.3:c.2576G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000226760.1:p.Arg859="
          },
          "RefSeq": {
            "hgvs": "NP_005996.2:p.Arg859="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2743,
          "referenceAllele": "G",
          "start": 2742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000503569.5:c.2576G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423337.1:p.Arg859="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335845"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2761,
          "referenceAllele": "G",
          "start": 2760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000507765.1:n.2761G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338969"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825920737",
      "coordinates": [
        {
          "allele": "G",
          "end": 2742,
          "referenceAllele": "G",
          "start": 2741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "NM_001145853.1:c.2576G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001139325.1:p.Arg859="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013791"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829621548",
      "coordinates": [
        {
          "allele": "G",
          "end": 2746,
          "referenceAllele": "G",
          "start": 2745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "NM_006005.3:c.2576G="
      ],
      "proteinEffect": {
        "hgvs": "NP_005996.2:p.Arg859="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031051",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000226760.5:c.2576G="
          },
          "RefSeq": {
            "hgvs": "NM_006005.3:c.2576G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000226760.1:p.Arg859="
          },
          "RefSeq": {
            "hgvs": "NP_005996.2:p.Arg859="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2725,
          "referenceAllele": "G",
          "start": 2724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "XM_017008586.1:c.2585G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016864075.1:p.Arg862="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563066"
    }
  ],
  "type": "nucleotide"
}