{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2580071779",
  "communityStandardTitle": [
    "NM_006005.3(WFS1):c.1832_1833delinsAT (p.Arg611His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1882966[alleleid]",
        "alleleId": 1882966,
        "preferredName": "NM_006005.3(WFS1):c.1832_1833delinsAT (p.Arg611His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2156690",
        "RCV": [
          "RCV003075593"
        ],
        "variationId": 2156690
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2474195001",
        "rs": 2474195001
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "AT",
          "end": 6301628,
          "referenceAllele": "GC",
          "start": 6301626
        }
      ],
      "hgvs": [
        "NC_000004.12:g.6301627_6301628delinsAT",
        "CM000666.2:g.6301627_6301628delinsAT"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "AT",
          "end": 6303355,
          "referenceAllele": "GC",
          "start": 6303353
        }
      ],
      "hgvs": [
        "NC_000004.11:g.6303354_6303355delinsAT",
        "CM000666.1:g.6303354_6303355delinsAT"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "AT",
          "end": 6354256,
          "referenceAllele": "GC",
          "start": 6354254
        }
      ],
      "hgvs": [
        "NC_000004.10:g.6354255_6354256delinsAT"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "AT",
          "end": 36779,
          "referenceAllele": "GC",
          "start": 36777
        }
      ],
      "hgvs": [
        "NG_011700.1:g.36778_36779delinsAT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001909"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "AT",
          "end": 2039,
          "referenceAllele": "GC",
          "start": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000682275.1:c.1868_1869delinsAT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507852.1:p.Arg623His",
        "hgvsWellDefined": "ENSP00000507852.1:p.Arg623His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827270"
    },
    {
      "coordinates": [
        {
          "allele": "AT",
          "end": 1810,
          "referenceAllele": "GC",
          "start": 1808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000683395.1:c.1809_1810delinsAT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828374"
    },
    {
      "coordinates": [
        {
          "allele": "AT",
          "end": 1980,
          "referenceAllele": "GC",
          "start": 1978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000684087.1:c.1832_1833delinsAT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506978.1:p.Arg611His",
        "hgvsWellDefined": "ENSP00000506978.1:p.Arg611His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829046"
    },
    {
      "coordinates": [
        {
          "allele": "AT",
          "end": 1639,
          "referenceAllele": "GC",
          "start": 1637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000506362.2:c.1583_1584delinsAT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424103.2:p.Arg528His",
        "hgvsWellDefined": "ENSP00000424103.2:p.Arg528His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758078"
    },
    {
      "coordinates": [
        {
          "allele": "AT",
          "end": 1492,
          "referenceAllele": "GC",
          "start": 1490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000673642.1:c.1491_1492delinsAT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501242.1:n.1491_1492delinsAT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773751"
    },
    {
      "coordinates": [
        {
          "allele": "AT",
          "end": 2036,
          "referenceAllele": "GC",
          "start": 2034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000673991.1:c.1868_1869delinsAT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501033.1:p.Arg623His",
        "hgvsWellDefined": "ENSP00000501033.1:p.Arg623His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774029"
    },
    {
      "coordinates": [
        {
          "allele": "AT",
          "end": 2003,
          "referenceAllele": "GC",
          "start": 2001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000226760.5:c.1832_1833delinsAT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000226760.1:p.Arg611His",
        "hgvsWellDefined": "ENSP00000226760.1:p.Arg611His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000226760.5:c.1832_1833delinsAT"
          },
          "RefSeq": {
            "hgvs": "NM_006005.3:c.1832_1833delinsAT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000226760.1:p.Arg611His"
          },
          "RefSeq": {
            "hgvs": "NP_005996.2:p.Arg611His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "AT",
          "end": 2000,
          "referenceAllele": "GC",
          "start": 1998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000503569.5:c.1832_1833delinsAT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423337.1:p.Arg611His",
        "hgvsWellDefined": "ENSP00000423337.1:p.Arg611His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335845"
    },
    {
      "coordinates": [
        {
          "allele": "AT",
          "end": 2018,
          "referenceAllele": "GC",
          "start": 2016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000507765.1:n.2017_2018delinsAT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338969"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825920321",
      "coordinates": [
        {
          "allele": "AT",
          "end": 1999,
          "referenceAllele": "GC",
          "start": 1997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "NM_001145853.1:c.1832_1833delinsAT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139325.1:p.Arg611His",
        "hgvsWellDefined": "NP_001139325.1:p.Arg611His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013791"
    },
    {
      "@id": "http://reg.genome.network/allele/PA136341",
      "coordinates": [
        {
          "allele": "AT",
          "end": 2003,
          "referenceAllele": "GC",
          "start": 2001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "NM_006005.3:c.1832_1833delinsAT"
      ],
      "proteinEffect": {
        "hgvs": "NP_005996.2:p.Arg611His",
        "hgvsWellDefined": "NP_005996.2:p.Arg611His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031051",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000226760.5:c.1832_1833delinsAT"
          },
          "RefSeq": {
            "hgvs": "NM_006005.3:c.1832_1833delinsAT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000226760.1:p.Arg611His"
          },
          "RefSeq": {
            "hgvs": "NP_005996.2:p.Arg611His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "AT",
          "end": 1982,
          "referenceAllele": "GC",
          "start": 1980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "XM_017008586.1:c.1841_1842delinsAT"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864075.1:p.Arg614His",
        "hgvsWellDefined": "XP_016864075.1:p.Arg614His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563066"
    }
  ],
  "type": "nucleotide"
}