{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1106549",
  "communityStandardTitle": [
    "NM_002016.2(FLG):c.3702del (p.Ser1235HisfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=65593[alleleid]",
        "alleleId": 65593,
        "preferredName": "NM_002016.2(FLG):c.3702del (p.Ser1235fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/50931",
        "RCV": [
          "RCV000479326",
          "RCV002054864"
        ],
        "variationId": 50931
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-152283659-AC-A",
        "id": "1-152283659-AC-A",
        "variant": "1:152283659 AC / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.152283660del?assembly=hg19",
        "id": "chr1:g.152283660del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.152311184del?assembly=hg38",
        "id": "chr1:g.152311184del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397507563",
        "rs": 397507563
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-152283659-AC-A?dataset=gnomad_r2_1",
        "id": "1-152283659-AC-A",
        "variant": "1:152283659 AC / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-152311183-AC-A?dataset=gnomad_r3",
        "id": "1-152311183-AC-A",
        "variant": "1:152311183 AC / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-152311183-AC-A?dataset=gnomad_r4",
        "id": "1-152311183-AC-A",
        "variant": "1:152311183 AC / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 152311186,
          "referenceAllele": "C",
          "start": 152311185
        }
      ],
      "hgvs": [
        "NC_000001.11:g.152311186del",
        "CM000663.2:g.152311186del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 152283662,
          "referenceAllele": "C",
          "start": 152283661
        }
      ],
      "hgvs": [
        "NC_000001.10:g.152283662del",
        "CM000663.1:g.152283662del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 150550286,
          "referenceAllele": "C",
          "start": 150550285
        }
      ],
      "hgvs": [
        "NC_000001.9:g.150550286del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 19020,
          "referenceAllele": "G",
          "start": 19019
        }
      ],
      "hgvs": [
        "NG_016190.1:g.19020del",
        "LRG_1028:g.19020del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002996"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3774,
          "referenceAllele": "G",
          "start": 3773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003748",
      "geneNCBI_id": 2312,
      "geneSymbol": "FLG",
      "hgvs": [
        "ENST00000368799.2:c.3702del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357789.1:p.Ser1235HisfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750285",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368799.2:c.3702del"
          },
          "RefSeq": {
            "hgvs": "NM_002016.2:c.3702del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357789.1:p.Ser1235HisfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_002007.1:p.Ser1235HisfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3738,
          "referenceAllele": "G",
          "start": 3737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003748",
      "geneNCBI_id": 2312,
      "geneSymbol": "FLG",
      "hgvs": [
        "ENST00000368799.1:c.3702del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357789.1:p.Ser1235HisfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267184"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3738,
          "referenceAllele": "G",
          "start": 3737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003748",
      "geneNCBI_id": 2312,
      "geneSymbol": "FLG",
      "hgvs": [
        "NM_002016.1:c.3702del",
        "LRG_1028t1:c.3702del"
      ],
      "proteinEffect": {
        "hgvs": "NP_002007.1:p.Ser1235HisfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027341"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3792,
          "referenceAllele": "G",
          "start": 3791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003748",
      "geneNCBI_id": 2312,
      "geneSymbol": "FLG",
      "hgvs": [
        "XM_011509329.1:c.3702del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507631.1:p.Ser1235HisfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076597"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3774,
          "referenceAllele": "G",
          "start": 3773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003748",
      "geneNCBI_id": 2312,
      "geneSymbol": "FLG",
      "hgvs": [
        "NM_002016.2:c.3702del"
      ],
      "proteinEffect": {
        "hgvs": "NP_002007.1:p.Ser1235HisfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695431",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368799.2:c.3702del"
          },
          "RefSeq": {
            "hgvs": "NM_002016.2:c.3702del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357789.1:p.Ser1235HisfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_002007.1:p.Ser1235HisfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}