{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10575999",
  "communityStandardTitle": [
    "NM_003331.5(TYK2):c.149del (p.Ser50CysfsTer2)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=226732[alleleid]",
        "alleleId": 226732,
        "preferredName": "NM_003331.5(TYK2):c.149del (p.Ser50fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/224887",
        "RCV": [
          "RCV000210451"
        ],
        "variationId": 224887
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.10488934del?assembly=hg19",
        "id": "chr19:g.10488934del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.10378258del?assembly=hg38",
        "id": "chr19:g.10378258del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/879253732",
        "rs": 879253732
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 10378258,
          "referenceAllele": "G",
          "start": 10378257
        }
      ],
      "hgvs": [
        "NC_000019.10:g.10378258del",
        "CM000681.2:g.10378258del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 10488934,
          "referenceAllele": "G",
          "start": 10488933
        }
      ],
      "hgvs": [
        "NC_000019.9:g.10488934del",
        "CM000681.1:g.10488934del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 10349934,
          "referenceAllele": "G",
          "start": 10349933
        }
      ],
      "hgvs": [
        "NC_000019.8:g.10349934del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7315,
          "referenceAllele": "C",
          "start": 7314
        }
      ],
      "hgvs": [
        "NG_007872.1:g.7315del",
        "LRG_121:g.7315del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000681"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 547,
          "referenceAllele": "C",
          "start": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000524470.2:c.149del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514307.1:p.Ser50CysfsTer2",
        "hgvsWellDefined": "ENSP00000514307.1:p.[Ser50_Val56del;Ile58_Ala79del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905637"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 563,
          "referenceAllele": "C",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000525976.6:c.149del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434831.2:p.Ser50CysfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905661"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 563,
          "referenceAllele": "C",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000527481.3:c.149del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466340.2:p.Ser50CysfsTer2",
        "hgvsWellDefined": "ENSP00000466340.2:p.[Ser50_Val56del;Ile58_Ala79del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905680"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 480,
          "referenceAllele": "C",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000529370.6:n.480del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905691"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 563,
          "referenceAllele": "C",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000529739.2:n.563del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905697"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 465,
          "referenceAllele": "C",
          "start": 464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000530829.2:c.149del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436826.2:p.Ser50CysfsTer2",
        "hgvsWellDefined": "ENSP00000436826.2:p.[Ser50_Val56del;Ile58_Leu79del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905708"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 437,
          "referenceAllele": "C",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000531836.6:c.149del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436175.2:p.Ser50CysfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905720"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 563,
          "referenceAllele": "C",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000533334.2:c.149del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432320.2:p.Ser50CysfsTer2",
        "hgvsWellDefined": "ENSP00000432320.2:p.[Ser50_Val56del;Ile58_Ala79del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905733"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 563,
          "referenceAllele": "C",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000534228.2:n.563del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905743"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 547,
          "referenceAllele": "C",
          "start": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000699355.1:c.149del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514328.1:p.Ser50CysfsTer2",
        "hgvsWellDefined": "ENSP00000514328.1:p.[Ser50_Val56del;Ile58_Ala79del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910292"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 563,
          "referenceAllele": "C",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000699356.1:n.563del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910293"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 563,
          "referenceAllele": "C",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000699357.1:n.563del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910294"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 563,
          "referenceAllele": "C",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000699358.1:c.149del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514329.1:p.Ser50CysfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910295"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 563,
          "referenceAllele": "C",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000699360.1:c.149del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514331.1:p.Ser50CysfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910297"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 492,
          "referenceAllele": "C",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000699369.1:n.492del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910306"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 514,
          "referenceAllele": "C",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000699370.1:n.514del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910307"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 390,
          "referenceAllele": "C",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000699371.1:c.149del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514336.1:p.Ser50CysfsTer2",
        "hgvsWellDefined": "ENSP00000514336.1:p.[Ser50_Val56del;Ile58_Ala79del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910308"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 527,
          "referenceAllele": "C",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000525621.6:c.149del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431885.1:p.Ser50CysfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758915",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000525621.6:c.149del"
          },
          "RefSeq": {
            "hgvs": "NM_003331.5:c.149del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000431885.1:p.Ser50CysfsTer2"
          },
          "RefSeq": {
            "hgvs": "NP_003322.3:p.Ser50CysfsTer2"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 251,
          "referenceAllele": "C",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000264818.10:c.149del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264818.6:p.Ser50CysfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251595"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 56,
          "endIntronDirection": "+",
          "endIntronOffset": 2252,
          "referenceAllele": "C",
          "start": 56,
          "startIntronDirection": "+",
          "startIntronOffset": 2251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000524462.5:c.-91+2252del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433203.1:n.-91+2252del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350617"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 631,
          "referenceAllele": "C",
          "start": 630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000525621.5:c.149del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431885.1:p.Ser50CysfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351613"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 480,
          "referenceAllele": "C",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000529370.5:c.149del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432728.1:p.Ser50CysfsTer2",
        "hgvsWellDefined": "ENSP00000432728.1:p.[Ser50_Val56del;Ile58_Ala79del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354765"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 465,
          "referenceAllele": "C",
          "start": 464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000530829.1:c.149del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436826.1:p.Ser50CysfsTer2",
        "hgvsWellDefined": "ENSP00000436826.1:p.[Ser50_Val56del;Ile58_Leu79del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356022"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 437,
          "referenceAllele": "C",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000531836.5:c.149del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436175.1:p.Ser50CysfsTer2",
        "hgvsWellDefined": "ENSP00000436175.1:p.[Ser50_Val56del;Ile58_Ala79del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356862"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 527,
          "referenceAllele": "C",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "NM_003331.4:c.149del",
        "LRG_121t1:c.149del"
      ],
      "proteinEffect": {
        "hgvs": "NP_003322.3:p.Ser50CysfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028581"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 437,
          "referenceAllele": "C",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "XM_011528245.1:c.149del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526547.1:p.Ser50CysfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095317"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 46,
          "referenceAllele": "C",
          "start": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "XM_011528246.1:c.-381del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526548.1:n.-381del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095318"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 306,
          "referenceAllele": "C",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "XM_011528248.1:c.149del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526550.1:p.Ser50CysfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095320"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 306,
          "referenceAllele": "C",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "XM_011528250.1:c.149del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526552.1:p.Ser50CysfsTer2",
        "hgvsWellDefined": "XP_011526552.1:p.[Ser50_Val56del;Ile58_Ala79del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095322"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 306,
          "referenceAllele": "C",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "XM_011528252.1:c.149del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526554.1:p.Ser50CysfsTer2",
        "hgvsWellDefined": "XP_011526554.1:p.[Ser50_Val56del;Ile58_Ala79del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095324"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 31,
          "referenceAllele": "C",
          "start": 30
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "XM_011528246.3:c.-381del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526548.1:n.-381del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549029"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 306,
          "referenceAllele": "C",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "XR_001753750.1:n.306del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600208"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 306,
          "referenceAllele": "C",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "XR_001753751.1:n.306del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600209"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 306,
          "referenceAllele": "C",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "XR_001753752.1:n.306del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600210"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 306,
          "referenceAllele": "C",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "XR_002958353.1:n.306del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604478"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 527,
          "referenceAllele": "C",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "NM_003331.5:c.149del"
      ],
      "proteinEffect": {
        "hgvs": "NP_003322.3:p.Ser50CysfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695790",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000525621.6:c.149del"
          },
          "RefSeq": {
            "hgvs": "NM_003331.5:c.149del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000431885.1:p.Ser50CysfsTer2"
          },
          "RefSeq": {
            "hgvs": "NP_003322.3:p.Ser50CysfsTer2"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 527,
          "referenceAllele": "C",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "NM_001385197.1:c.149del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372126.1:p.Ser50CysfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723545"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 527,
          "referenceAllele": "C",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "NM_001385198.1:c.149del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372127.1:p.Ser50CysfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723546"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 437,
          "referenceAllele": "C",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "NM_001385199.1:c.149del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372128.1:p.Ser50CysfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723547"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 527,
          "referenceAllele": "C",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "NM_001385200.1:c.149del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372129.1:p.Ser50CysfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723548"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 527,
          "referenceAllele": "C",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "NM_001385201.1:c.149del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372130.1:p.Ser50CysfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723549"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 527,
          "referenceAllele": "C",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "NM_001385202.1:c.149del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372131.1:p.Ser50CysfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723550"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 527,
          "referenceAllele": "C",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "NM_001385203.1:c.149del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372132.1:p.Ser50CysfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723551"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 527,
          "referenceAllele": "C",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "NM_001385204.1:c.149del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372133.1:p.Ser50CysfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723552"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 527,
          "referenceAllele": "C",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "NM_001385205.1:c.149del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372134.1:p.Ser50CysfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723553"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 527,
          "referenceAllele": "C",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "NM_001385206.1:c.149del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372135.1:p.Ser50CysfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723554"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 527,
          "referenceAllele": "C",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "NM_001385207.1:c.149del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372136.1:p.Ser50CysfsTer2"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723555"
    }
  ],
  "type": "nucleotide"
}