{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1103108",
  "communityStandardTitle": [
    "NM_002016.2(FLG):c.10969C>T (p.Arg3657Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6329680",
        "active": true,
        "id": "COSM6329680"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=421167[alleleid]",
        "alleleId": 421167,
        "preferredName": "NM_002016.2(FLG):c.10969C>T (p.Arg3657Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/429704",
        "RCV": [
          "RCV000493067",
          "RCV002248723",
          "RCV002470882"
        ],
        "variationId": 429704
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-152276393-G-A",
        "id": "1-152276393-G-A",
        "variant": "1:152276393 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.152276393G>A?assembly=hg19",
        "id": "chr1:g.152276393G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.152303917G>A?assembly=hg38",
        "id": "chr1:g.152303917G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/749083759",
        "rs": 749083759
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-152276393-G-A?dataset=gnomad_r2_1",
        "id": "1-152276393-G-A",
        "variant": "1:152276393 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-152303917-G-A?dataset=gnomad_r3",
        "id": "1-152303917-G-A",
        "variant": "1:152303917 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-152303917-G-A?dataset=gnomad_r4",
        "id": "1-152303917-G-A",
        "variant": "1:152303917 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 152303917,
          "referenceAllele": "G",
          "start": 152303916
        }
      ],
      "hgvs": [
        "NC_000001.11:g.152303917G>A",
        "CM000663.2:g.152303917G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 152276393,
          "referenceAllele": "G",
          "start": 152276392
        }
      ],
      "hgvs": [
        "NC_000001.10:g.152276393G>A",
        "CM000663.1:g.152276393G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 150543017,
          "referenceAllele": "G",
          "start": 150543016
        }
      ],
      "hgvs": [
        "NC_000001.9:g.150543017G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26287,
          "referenceAllele": "C",
          "start": 26286
        }
      ],
      "hgvs": [
        "NG_016190.1:g.26287C>T",
        "LRG_1028:g.26287C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002996"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11041,
          "referenceAllele": "C",
          "start": 11040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003748",
      "geneNCBI_id": 2312,
      "geneSymbol": "FLG",
      "hgvs": [
        "ENST00000368799.2:c.10969C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357789.1:p.Arg3657Ter",
        "hgvsWellDefined": "ENSP00000357789.1:p.Arg3657_Glu4061delinsGlySerSerGlySerGlnAlaSerAspSerGluGlyHisSerGluAspSerAspThrGlnSerValSerAlaHisGlyGlnAlaGlyProHisGlnGlnSerHisGlnGluSerThrArgGlyArgSerAlaGlyArgSerGlyArgSerGlySerPheLeuTyrGlnValSerThrHisGluGlnSerGluSerAlaHisGlyArgAlaGlyProSerThrGlyGlyArgGlnGlySerArgHisGluGlnAlaArgAspSerSerArgHisSerAlaSerGlnGluGlyGlnAspThrIleArgGlyHisProGlySerArgArgGlyGlyArgGlnGlySerTyrHisGluGlnSerValAspArgSerGlyHisSerGlySerHisHisSerHisThrThrSerGlnGlyArgSerAspAlaSerHisGlyGlnSerGlySerArgSerAlaSerArgGluThrArgAsnGluGluGlnSerGlyAspGlySerArgHisSerGlySerArgHisHisGluAlaSerThrGlnAlaAspSerSerArgHisSerGlnSerGlyGlnGlyGluSerAlaGlySerArgArgSerArgArgGlnGlySerSerValSerGlnAspSerAspSerGluAlaTyrProGluAspSerGluArgArgSerGluSerAlaSerArgAsnHisHisGlySerSerArgGluGlnSerArgAspGlySerArgHisProGlySerSerHisArgAspThrAlaSerHisValGlnSerSerProValGlnSerAspSerSerThrAlaLysGluHisGlyHisPheSerSerLeuSerGlnAspSerAlaTyrHisSerGlyIleGlnSerArgGlySerProHisSerSerSerSerTyrHisTyrGlnSerGluGlyThrGluArgGlnLysGlyGlnSerGlyLeuValTrpArgHisGlySerTyrGlySerAlaAspTyrAspTyrGlyGluSerGlyPheArgHisSerGlnHisGlySerValSerTyrAsnSerAsnProValValPheLysGluArgSerAspIleCysLysAlaSerAlaPheGlyLysAspHisProArgTyrTyrAlaThrTyrIleAsnLysAspProGlyLeuCysGlyHisSerSerAspIleSerLysGlnLeuGlyPheSerGlnSerGlnArgTyrTyrTyrTyrGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750285",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368799.2:c.10969C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002016.2:c.10969C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357789.1:p.Arg3657Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002007.1:p.Arg3657Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11005,
          "referenceAllele": "C",
          "start": 11004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003748",
      "geneNCBI_id": 2312,
      "geneSymbol": "FLG",
      "hgvs": [
        "ENST00000368799.1:c.10969C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357789.1:p.Arg3657Ter",
        "hgvsWellDefined": "ENSP00000357789.1:p.Arg3657_Glu4061delinsGlySerSerGlySerGlnAlaSerAspSerGluGlyHisSerGluAspSerAspThrGlnSerValSerAlaHisGlyGlnAlaGlyProHisGlnGlnSerHisGlnGluSerThrArgGlyArgSerAlaGlyArgSerGlyArgSerGlySerPheLeuTyrGlnValSerThrHisGluGlnSerGluSerAlaHisGlyArgAlaGlyProSerThrGlyGlyArgGlnGlySerArgHisGluGlnAlaArgAspSerSerArgHisSerAlaSerGlnGluGlyGlnAspThrIleArgGlyHisProGlySerArgArgGlyGlyArgGlnGlySerTyrHisGluGlnSerValAspArgSerGlyHisSerGlySerHisHisSerHisThrThrSerGlnGlyArgSerAspAlaSerHisGlyGlnSerGlySerArgSerAlaSerArgGluThrArgAsnGluGluGlnSerGlyAspGlySerArgHisSerGlySerArgHisHisGluAlaSerThrGlnAlaAspSerSerArgHisSerGlnSerGlyGlnGlyGluSerAlaGlySerArgArgSerArgArgGlnGlySerSerValSerGlnAspSerAspSerGluAlaTyrProGluAspSerGluArgArgSerGluSerAlaSerArgAsnHisHisGlySerSerArgGluGlnSerArgAspGlySerArgHisProGlySerSerHisArgAspThrAlaSerHisValGlnSerSerProValGlnSerAspSerSerThrAlaLysGluHisGlyHisPheSerSerLeuSerGlnAspSerAlaTyrHisSerGlyIleGlnSerArgGlySerProHisSerSerSerSerTyrHisTyrGlnSerGluGlyThrGluArgGlnLysGlyGlnSerGlyLeuValTrpArgHisGlySerTyrGlySerAlaAspTyrAspTyrGlyGluSerGlyPheArgHisSerGlnHisGlySerValSerTyrAsnSerAsnProValValPheLysGluArgSerAspIleCysLysAlaSerAlaPheGlyLysAspHisProArgTyrTyrAlaThrTyrIleAsnLysAspProGlyLeuCysGlyHisSerSerAspIleSerLysGlnLeuGlyPheSerGlnSerGlnArgTyrTyrTyrTyrGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645397046",
      "coordinates": [
        {
          "allele": "T",
          "end": 11005,
          "referenceAllele": "C",
          "start": 11004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003748",
      "geneNCBI_id": 2312,
      "geneSymbol": "FLG",
      "hgvs": [
        "NM_002016.1:c.10969C>T",
        "LRG_1028t1:c.10969C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002007.1:p.Arg3657Ter",
        "hgvsWellDefined": "NP_002007.1:p.Arg3657_Glu4061delinsGlySerSerGlySerGlnAlaSerAspSerGluGlyHisSerGluAspSerAspThrGlnSerValSerAlaHisGlyGlnAlaGlyProHisGlnGlnSerHisGlnGluSerThrArgGlyArgSerAlaGlyArgSerGlyArgSerGlySerPheLeuTyrGlnValSerThrHisGluGlnSerGluSerAlaHisGlyArgAlaGlyProSerThrGlyGlyArgGlnGlySerArgHisGluGlnAlaArgAspSerSerArgHisSerAlaSerGlnGluGlyGlnAspThrIleArgGlyHisProGlySerArgArgGlyGlyArgGlnGlySerTyrHisGluGlnSerValAspArgSerGlyHisSerGlySerHisHisSerHisThrThrSerGlnGlyArgSerAspAlaSerHisGlyGlnSerGlySerArgSerAlaSerArgGluThrArgAsnGluGluGlnSerGlyAspGlySerArgHisSerGlySerArgHisHisGluAlaSerThrGlnAlaAspSerSerArgHisSerGlnSerGlyGlnGlyGluSerAlaGlySerArgArgSerArgArgGlnGlySerSerValSerGlnAspSerAspSerGluAlaTyrProGluAspSerGluArgArgSerGluSerAlaSerArgAsnHisHisGlySerSerArgGluGlnSerArgAspGlySerArgHisProGlySerSerHisArgAspThrAlaSerHisValGlnSerSerProValGlnSerAspSerSerThrAlaLysGluHisGlyHisPheSerSerLeuSerGlnAspSerAlaTyrHisSerGlyIleGlnSerArgGlySerProHisSerSerSerSerTyrHisTyrGlnSerGluGlyThrGluArgGlnLysGlyGlnSerGlyLeuValTrpArgHisGlySerTyrGlySerAlaAspTyrAspTyrGlyGluSerGlyPheArgHisSerGlnHisGlySerValSerTyrAsnSerAsnProValValPheLysGluArgSerAspIleCysLysAlaSerAlaPheGlyLysAspHisProArgTyrTyrAlaThrTyrIleAsnLysAspProGlyLeuCysGlyHisSerSerAspIleSerLysGlnLeuGlyPheSerGlnSerGlnArgTyrTyrTyrTyrGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027341"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9198,
          "endIntronDirection": "-",
          "endIntronOffset": 83,
          "referenceAllele": "C",
          "start": 9198,
          "startIntronDirection": "-",
          "startIntronOffset": 84
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003748",
      "geneNCBI_id": 2312,
      "geneSymbol": "FLG",
      "hgvs": [
        "XM_011509329.1:c.9109-84C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507631.1:n.9109-84C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076597"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645397046",
      "coordinates": [
        {
          "allele": "T",
          "end": 11041,
          "referenceAllele": "C",
          "start": 11040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003748",
      "geneNCBI_id": 2312,
      "geneSymbol": "FLG",
      "hgvs": [
        "NM_002016.2:c.10969C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002007.1:p.Arg3657Ter",
        "hgvsWellDefined": "NP_002007.1:p.Arg3657_Glu4061delinsGlySerSerGlySerGlnAlaSerAspSerGluGlyHisSerGluAspSerAspThrGlnSerValSerAlaHisGlyGlnAlaGlyProHisGlnGlnSerHisGlnGluSerThrArgGlyArgSerAlaGlyArgSerGlyArgSerGlySerPheLeuTyrGlnValSerThrHisGluGlnSerGluSerAlaHisGlyArgAlaGlyProSerThrGlyGlyArgGlnGlySerArgHisGluGlnAlaArgAspSerSerArgHisSerAlaSerGlnGluGlyGlnAspThrIleArgGlyHisProGlySerArgArgGlyGlyArgGlnGlySerTyrHisGluGlnSerValAspArgSerGlyHisSerGlySerHisHisSerHisThrThrSerGlnGlyArgSerAspAlaSerHisGlyGlnSerGlySerArgSerAlaSerArgGluThrArgAsnGluGluGlnSerGlyAspGlySerArgHisSerGlySerArgHisHisGluAlaSerThrGlnAlaAspSerSerArgHisSerGlnSerGlyGlnGlyGluSerAlaGlySerArgArgSerArgArgGlnGlySerSerValSerGlnAspSerAspSerGluAlaTyrProGluAspSerGluArgArgSerGluSerAlaSerArgAsnHisHisGlySerSerArgGluGlnSerArgAspGlySerArgHisProGlySerSerHisArgAspThrAlaSerHisValGlnSerSerProValGlnSerAspSerSerThrAlaLysGluHisGlyHisPheSerSerLeuSerGlnAspSerAlaTyrHisSerGlyIleGlnSerArgGlySerProHisSerSerSerSerTyrHisTyrGlnSerGluGlyThrGluArgGlnLysGlyGlnSerGlyLeuValTrpArgHisGlySerTyrGlySerAlaAspTyrAspTyrGlyGluSerGlyPheArgHisSerGlnHisGlySerValSerTyrAsnSerAsnProValValPheLysGluArgSerAspIleCysLysAlaSerAlaPheGlyLysAspHisProArgTyrTyrAlaThrTyrIleAsnLysAspProGlyLeuCysGlyHisSerSerAspIleSerLysGlnLeuGlyPheSerGlnSerGlnArgTyrTyrTyrTyrGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695431",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368799.2:c.10969C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002016.2:c.10969C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357789.1:p.Arg3657Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002007.1:p.Arg3657Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}