{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA356179358",
  "communityStandardTitle": [
    "NM_006005.3(WFS1):c.2590G>T (p.Glu864Ter)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.6304112G>T?assembly=hg19",
        "id": "chr4:g.6304112G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.6302385G>T?assembly=hg38",
        "id": "chr4:g.6302385G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/74315205",
        "rs": 74315205
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-6302385-G-T?dataset=gnomad_r4",
        "id": "4-6302385-G-T",
        "variant": "4:6302385 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 6302385,
          "referenceAllele": "G",
          "start": 6302384
        }
      ],
      "hgvs": [
        "NC_000004.12:g.6302385G>T",
        "CM000666.2:g.6302385G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 6304112,
          "referenceAllele": "G",
          "start": 6304111
        }
      ],
      "hgvs": [
        "NC_000004.11:g.6304112G>T",
        "CM000666.1:g.6304112G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 6355013,
          "referenceAllele": "G",
          "start": 6355012
        }
      ],
      "hgvs": [
        "NC_000004.10:g.6355013G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 37536,
          "referenceAllele": "G",
          "start": 37535
        }
      ],
      "hgvs": [
        "NG_011700.1:g.37536G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001909"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2796,
          "referenceAllele": "G",
          "start": 2795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000682275.1:c.2626G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507852.1:p.Glu876Ter",
        "hgvsWellDefined": "ENSP00000507852.1:p.Glu876_Ala902delinsHisAspTrpArgSerThrValHisGlyAlaValLysPheAlaPheAspPhePhePhePheProPheLeuSerAlaAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827270"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2567,
          "referenceAllele": "G",
          "start": 2566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000683395.1:c.2567G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828374"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2737,
          "referenceAllele": "G",
          "start": 2736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000684087.1:c.2590G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506978.1:p.Glu864Ter",
        "hgvsWellDefined": "ENSP00000506978.1:p.Glu864_Ala890delinsHisAspTrpArgSerThrValHisGlyAlaValLysPheAlaPheAspPhePhePhePheProPheLeuSerAlaAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829046"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2396,
          "referenceAllele": "G",
          "start": 2395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000506362.2:c.2341G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424103.2:p.Glu781Ter",
        "hgvsWellDefined": "ENSP00000424103.2:p.Glu781_Ala807delinsHisAspTrpArgSerThrValHisGlyAlaValLysPheAlaPheAspPhePhePhePheProPheLeuSerAlaAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758078"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2793,
          "referenceAllele": "G",
          "start": 2792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000673991.1:c.2626G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501033.1:p.Glu876Ter",
        "hgvsWellDefined": "ENSP00000501033.1:p.Glu876_Ala902delinsHisAspTrpArgSerThrValHisGlyAlaValLysPheAlaPheAspPhePhePhePheProPheLeuSerAlaAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774029"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2760,
          "referenceAllele": "G",
          "start": 2759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000226760.5:c.2590G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000226760.1:p.Glu864Ter",
        "hgvsWellDefined": "ENSP00000226760.1:p.Glu864_Ala890delinsHisAspTrpArgSerThrValHisGlyAlaValLysPheAlaPheAspPhePhePhePheProPheLeuSerAlaAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000226760.5:c.2590G>T"
          },
          "RefSeq": {
            "hgvs": "NM_006005.3:c.2590G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000226760.1:p.Glu864Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005996.2:p.Glu864Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2757,
          "referenceAllele": "G",
          "start": 2756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000503569.5:c.2590G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423337.1:p.Glu864Ter",
        "hgvsWellDefined": "ENSP00000423337.1:p.Glu864_Ala890delinsHisAspTrpArgSerThrValHisGlyAlaValLysPheAlaPheAspPhePhePhePheProPheLeuSerAlaAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335845"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2775,
          "referenceAllele": "G",
          "start": 2774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000507765.1:n.2775G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338969"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2756,
          "referenceAllele": "G",
          "start": 2755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "NM_001145853.1:c.2590G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139325.1:p.Glu864Ter",
        "hgvsWellDefined": "NP_001139325.1:p.Glu864_Ala890delinsHisAspTrpArgSerThrValHisGlyAlaValLysPheAlaPheAspPhePhePhePheProPheLeuSerAlaAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013791"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069881388",
      "coordinates": [
        {
          "allele": "T",
          "end": 2760,
          "referenceAllele": "G",
          "start": 2759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "NM_006005.3:c.2590G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005996.2:p.Glu864Ter",
        "hgvsWellDefined": "NP_005996.2:p.Glu864_Ala890delinsHisAspTrpArgSerThrValHisGlyAlaValLysPheAlaPheAspPhePhePhePheProPheLeuSerAlaAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031051",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000226760.5:c.2590G>T"
          },
          "RefSeq": {
            "hgvs": "NM_006005.3:c.2590G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000226760.1:p.Glu864Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005996.2:p.Glu864Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2739,
          "referenceAllele": "G",
          "start": 2738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "XM_017008586.1:c.2599G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864075.1:p.Glu867Ter",
        "hgvsWellDefined": "XP_016864075.1:p.Glu867_Ala893delinsHisAspTrpArgSerThrValHisGlyAlaValLysPheAlaPheAspPhePhePhePheProPheLeuSerAlaAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563066"
    }
  ],
  "type": "nucleotide"
}