{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA343123533",
  "communityStandardTitle": [
    "NM_000130.5(F5):c.5793C>G (p.Tyr1931Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3063263[alleleid]",
        "alleleId": 3063263,
        "preferredName": "NM_000130.5(F5):c.5793C>G (p.Tyr1931Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2896674",
        "RCV": [
          "RCV003764257"
        ],
        "variationId": 2896674
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.169493138G>C?assembly=hg19",
        "id": "chr1:g.169493138G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.169523900G>C?assembly=hg38",
        "id": "chr1:g.169523900G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1189685462",
        "rs": 1189685462
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-169523900-G-C?dataset=gnomad_r4",
        "id": "1-169523900-G-C",
        "variant": "1:169523900 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 169523900,
          "referenceAllele": "G",
          "start": 169523899
        }
      ],
      "hgvs": [
        "NC_000001.11:g.169523900G>C",
        "CM000663.2:g.169523900G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 169493138,
          "referenceAllele": "G",
          "start": 169493137
        }
      ],
      "hgvs": [
        "NC_000001.10:g.169493138G>C",
        "CM000663.1:g.169493138G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 167759762,
          "referenceAllele": "G",
          "start": 167759761
        }
      ],
      "hgvs": [
        "NC_000001.9:g.167759762G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 67632,
          "referenceAllele": "C",
          "start": 67631
        }
      ],
      "hgvs": [
        "NG_011806.1:g.67632C>G",
        "LRG_553:g.67632C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001989"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5888,
          "referenceAllele": "C",
          "start": 5887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003542",
      "geneNCBI_id": 2153,
      "geneSymbol": "F5",
      "hgvs": [
        "ENST00000367797.9:c.5793C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356771.3:p.Tyr1931Ter",
        "hgvsWellDefined": "ENSP00000356771.3:p.Tyr1931_Tyr2224delinsTrpGluProArgLeuAlaArgLeuAsnAsnGlyGlySerTyrAsnAlaTrpSerValGluLysLeuAlaAlaGluPheAlaSerLysProTrpIleGlnValAspMetGlnLysGluValIleIleThrGlyIleGlnThrGlnGlyAlaLysHisTyrLeuLysSerCysTyrThrThrGluPheTyrValAlaTyrSerSerAsnGlnIleAsnTrpGlnIlePheLysGlyAsnSerThrArgAsnValMetTyrPheAsnGlyAsnSerAspAlaSerThrIleLysGluAsnGlnPheAspProProIleValAlaArgTyrIleArgIleSerProThrArgAlaTyrAsnArgProThrLeuArgLeuGluLeuGlnGlyCysGluValAsnGlyCysSerThrProLeuGlyMetGluAsnGlyLysIleGluAsnLysGlnIleThrAlaSerSerPheLysLysSerTrpTrpGlyAspTyrTrpGluProPheArgAlaArgLeuAsnAlaGlnGlyArgValAsnAlaTrpGlnAlaLysAlaAsnAsnAsnLysGlnTrpLeuGluIleAspLeuLeuLysIleLysLysIleThrAlaIleIleThrGlnGlyCysLysSerLeuSerSerGluMetTyrValLysSerTyrThrIleHisTyrSerGluGlnGlyValGluTrpLysProTyrArgLeuLysSerSerMetValAspLysIlePheGluGlyAsnThrAsnThrLysGlyHisValLysAsnPhePheAsnProProIleIleSerArgPheIleArgValIleProLysThrTrpAsnGlnSerIleAlaLeuArgLeuGluLeuPheGlyCysAspIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367797.9:c.5793C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000130.5:c.5793C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356771.3:p.Tyr1931Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000121.2:p.Tyr1931Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6010,
          "referenceAllele": "C",
          "start": 6009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003542",
      "geneNCBI_id": 2153,
      "geneSymbol": "F5",
      "hgvs": [
        "ENST00000367796.3:c.5808C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356770.3:p.Tyr1936Ter",
        "hgvsWellDefined": "ENSP00000356770.3:p.Tyr1936_Tyr2229delinsTrpGluProArgLeuAlaArgLeuAsnAsnGlyGlySerTyrAsnAlaTrpSerValGluLysLeuAlaAlaGluPheAlaSerLysProTrpIleGlnValAspMetGlnLysGluValIleIleThrGlyIleGlnThrGlnGlyAlaLysHisTyrLeuLysSerCysTyrThrThrGluPheTyrValAlaTyrSerSerAsnGlnIleAsnTrpGlnIlePheLysGlyAsnSerThrArgAsnValMetTyrPheAsnGlyAsnSerAspAlaSerThrIleLysGluAsnGlnPheAspProProIleValAlaArgTyrIleArgIleSerProThrArgAlaTyrAsnArgProThrLeuArgLeuGluLeuGlnGlyCysGluValAsnGlyCysSerThrProLeuGlyMetGluAsnGlyLysIleGluAsnLysGlnIleThrAlaSerSerPheLysLysSerTrpTrpGlyAspTyrTrpGluProPheArgAlaArgLeuAsnAlaGlnGlyArgValAsnAlaTrpGlnAlaLysAlaAsnAsnAsnLysGlnTrpLeuGluIleAspLeuLeuLysIleLysLysIleThrAlaIleIleThrGlnGlyCysLysSerLeuSerSerGluMetTyrValLysSerTyrThrIleHisTyrSerGluGlnGlyValGluTrpLysProTyrArgLeuLysSerSerMetValAspLysIlePheGluGlyAsnThrAsnThrLysGlyHisValLysAsnPhePheAsnProProIleIleSerArgPheIleArgValIleProLysThrTrpAsnGlnSerIleAlaLeuArgLeuGluLeuPheGlyCysAspIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266581"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5995,
          "referenceAllele": "C",
          "start": 5994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003542",
      "geneNCBI_id": 2153,
      "geneSymbol": "F5",
      "hgvs": [
        "ENST00000367797.7:c.5793C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356771.3:p.Tyr1931Ter",
        "hgvsWellDefined": "ENSP00000356771.3:p.Tyr1931_Tyr2224delinsTrpGluProArgLeuAlaArgLeuAsnAsnGlyGlySerTyrAsnAlaTrpSerValGluLysLeuAlaAlaGluPheAlaSerLysProTrpIleGlnValAspMetGlnLysGluValIleIleThrGlyIleGlnThrGlnGlyAlaLysHisTyrLeuLysSerCysTyrThrThrGluPheTyrValAlaTyrSerSerAsnGlnIleAsnTrpGlnIlePheLysGlyAsnSerThrArgAsnValMetTyrPheAsnGlyAsnSerAspAlaSerThrIleLysGluAsnGlnPheAspProProIleValAlaArgTyrIleArgIleSerProThrArgAlaTyrAsnArgProThrLeuArgLeuGluLeuGlnGlyCysGluValAsnGlyCysSerThrProLeuGlyMetGluAsnGlyLysIleGluAsnLysGlnIleThrAlaSerSerPheLysLysSerTrpTrpGlyAspTyrTrpGluProPheArgAlaArgLeuAsnAlaGlnGlyArgValAsnAlaTrpGlnAlaLysAlaAsnAsnAsnLysGlnTrpLeuGluIleAspLeuLeuLysIleLysLysIleThrAlaIleIleThrGlnGlyCysLysSerLeuSerSerGluMetTyrValLysSerTyrThrIleHisTyrSerGluGlnGlyValGluTrpLysProTyrArgLeuLysSerSerMetValAspLysIlePheGluGlyAsnThrAsnThrLysGlyHisValLysAsnPhePheAsnProProIleIleSerArgPheIleArgValIleProLysThrTrpAsnGlnSerIleAlaLeuArgLeuGluLeuPheGlyCysAspIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266582"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741810254",
      "coordinates": [
        {
          "allele": "G",
          "end": 5938,
          "referenceAllele": "C",
          "start": 5937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003542",
      "geneNCBI_id": 2153,
      "geneSymbol": "F5",
      "hgvs": [
        "NM_000130.4:c.5793C>G",
        "LRG_553t1:c.5793C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000121.2:p.Tyr1931Ter",
        "hgvsWellDefined": "NP_000121.2:p.Tyr1931_Tyr2224delinsTrpGluProArgLeuAlaArgLeuAsnAsnGlyGlySerTyrAsnAlaTrpSerValGluLysLeuAlaAlaGluPheAlaSerLysProTrpIleGlnValAspMetGlnLysGluValIleIleThrGlyIleGlnThrGlnGlyAlaLysHisTyrLeuLysSerCysTyrThrThrGluPheTyrValAlaTyrSerSerAsnGlnIleAsnTrpGlnIlePheLysGlyAsnSerThrArgAsnValMetTyrPheAsnGlyAsnSerAspAlaSerThrIleLysGluAsnGlnPheAspProProIleValAlaArgTyrIleArgIleSerProThrArgAlaTyrAsnArgProThrLeuArgLeuGluLeuGlnGlyCysGluValAsnGlyCysSerThrProLeuGlyMetGluAsnGlyLysIleGluAsnLysGlnIleThrAlaSerSerPheLysLysSerTrpTrpGlyAspTyrTrpGluProPheArgAlaArgLeuAsnAlaGlnGlyArgValAsnAlaTrpGlnAlaLysAlaAsnAsnAsnLysGlnTrpLeuGluIleAspLeuLeuLysIleLysLysIleThrAlaIleIleThrGlnGlyCysLysSerLeuSerSerGluMetTyrValLysSerTyrThrIleHisTyrSerGluGlnGlyValGluTrpLysProTyrArgLeuLysSerSerMetValAspLysIlePheGluGlyAsnThrAsnThrLysGlyHisValLysAsnPhePheAsnProProIleIleSerArgPheIleArgValIleProLysThrTrpAsnGlnSerIleAlaLeuArgLeuGluLeuPheGlyCysAspIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006192"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5945,
          "referenceAllele": "C",
          "start": 5944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003542",
      "geneNCBI_id": 2153,
      "geneSymbol": "F5",
      "hgvs": [
        "XM_017000660.2:c.5382C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856149.1:p.Tyr1794Ter",
        "hgvsWellDefined": "XP_016856149.1:p.Tyr1794_Tyr2087delinsTrpGluProArgLeuAlaArgLeuAsnAsnGlyGlySerTyrAsnAlaTrpSerValGluLysLeuAlaAlaGluPheAlaSerLysProTrpIleGlnValAspMetGlnLysGluValIleIleThrGlyIleGlnThrGlnGlyAlaLysHisTyrLeuLysSerCysTyrThrThrGluPheTyrValAlaTyrSerSerAsnGlnIleAsnTrpGlnIlePheLysGlyAsnSerThrArgAsnValMetTyrPheAsnGlyAsnSerAspAlaSerThrIleLysGluAsnGlnPheAspProProIleValAlaArgTyrIleArgIleSerProThrArgAlaTyrAsnArgProThrLeuArgLeuGluLeuGlnGlyCysGluValAsnGlyCysSerThrProLeuGlyMetGluAsnGlyLysIleGluAsnLysGlnIleThrAlaSerSerPheLysLysSerTrpTrpGlyAspTyrTrpGluProPheArgAlaArgLeuAsnAlaGlnGlyArgValAsnAlaTrpGlnAlaLysAlaAsnAsnAsnLysGlnTrpLeuGluIleAspLeuLeuLysIleLysLysIleThrAlaIleIleThrGlnGlyCysLysSerLeuSerSerGluMetTyrValLysSerTyrThrIleHisTyrSerGluGlnGlyValGluTrpLysProTyrArgLeuLysSerSerMetValAspLysIlePheGluGlyAsnThrAsnThrLysGlyHisValLysAsnPhePheAsnProProIleIleSerArgPheIleArgValIleProLysThrTrpAsnGlnSerIleAlaLeuArgLeuGluLeuPheGlyCysAspIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741810254",
      "coordinates": [
        {
          "allele": "G",
          "end": 5888,
          "referenceAllele": "C",
          "start": 5887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003542",
      "geneNCBI_id": 2153,
      "geneSymbol": "F5",
      "hgvs": [
        "NM_000130.5:c.5793C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000121.2:p.Tyr1931Ter",
        "hgvsWellDefined": "NP_000121.2:p.Tyr1931_Tyr2224delinsTrpGluProArgLeuAlaArgLeuAsnAsnGlyGlySerTyrAsnAlaTrpSerValGluLysLeuAlaAlaGluPheAlaSerLysProTrpIleGlnValAspMetGlnLysGluValIleIleThrGlyIleGlnThrGlnGlyAlaLysHisTyrLeuLysSerCysTyrThrThrGluPheTyrValAlaTyrSerSerAsnGlnIleAsnTrpGlnIlePheLysGlyAsnSerThrArgAsnValMetTyrPheAsnGlyAsnSerAspAlaSerThrIleLysGluAsnGlnPheAspProProIleValAlaArgTyrIleArgIleSerProThrArgAlaTyrAsnArgProThrLeuArgLeuGluLeuGlnGlyCysGluValAsnGlyCysSerThrProLeuGlyMetGluAsnGlyLysIleGluAsnLysGlnIleThrAlaSerSerPheLysLysSerTrpTrpGlyAspTyrTrpGluProPheArgAlaArgLeuAsnAlaGlnGlyArgValAsnAlaTrpGlnAlaLysAlaAsnAsnAsnLysGlnTrpLeuGluIleAspLeuLeuLysIleLysLysIleThrAlaIleIleThrGlnGlyCysLysSerLeuSerSerGluMetTyrValLysSerTyrThrIleHisTyrSerGluGlnGlyValGluTrpLysProTyrArgLeuLysSerSerMetValAspLysIlePheGluGlyAsnThrAsnThrLysGlyHisValLysAsnPhePheAsnProProIleIleSerArgPheIleArgValIleProLysThrTrpAsnGlnSerIleAlaLeuArgLeuGluLeuPheGlyCysAspIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674717",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367797.9:c.5793C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000130.5:c.5793C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356771.3:p.Tyr1931Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000121.2:p.Tyr1931Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}