{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA414705870",
  "communityStandardTitle": [
    "NM_004484.4(GPC3):c.780G>A (p.Trp260Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3225052[alleleid]",
        "alleleId": 3225052,
        "preferredName": "NM_004484.4(GPC3):c.780G>A (p.Trp260Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3064931",
        "RCV": [
          "RCV003990008"
        ],
        "variationId": 3064931
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.132887761C>T?assembly=hg19",
        "id": "chrX:g.132887761C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.133753734C>T?assembly=hg38",
        "id": "chrX:g.133753734C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2521354962",
        "rs": 2521354962
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 133753734,
          "referenceAllele": "C",
          "start": 133753733
        }
      ],
      "hgvs": [
        "NC_000023.11:g.133753734C>T",
        "CM000685.2:g.133753734C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 132887761,
          "referenceAllele": "C",
          "start": 132887760
        }
      ],
      "hgvs": [
        "NC_000023.10:g.132887761C>T",
        "CM000685.1:g.132887761C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 132715427,
          "referenceAllele": "C",
          "start": 132715426
        }
      ],
      "hgvs": [
        "NC_000023.9:g.132715427C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 236906,
          "referenceAllele": "G",
          "start": 236905
        }
      ],
      "hgvs": [
        "NG_009286.1:g.236906G>A",
        "LRG_505:g.236906G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001543"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 996,
          "referenceAllele": "G",
          "start": 995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000684880.1:c.*368G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510280.1:n.*368G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829775"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 900,
          "referenceAllele": "G",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000689310.1:c.732G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510438.1:p.Trp244Ter",
        "hgvsWellDefined": "ENSP00000510438.1:p.Trp244_His564delinsTyrCysSerTyrCysGlnGlyLeuMetMetValLysProCysGlyGlyTyrCysAsnValValMetGlnGlyCysMetAlaGlyValValGluIleAspLysTyrTrpArgGluTyrIleLeuSerLeuGluGluLeuValAsnGlyMetTyrArgIleTyrAspMetGluAsnValLeuLeuGlyLeuPheSerThrIleHisAspSerIleGlnTyrValGlnLysAsnAlaGlyLysLeuThrThrThrIleGlyLysLeuCysAlaHisSerGlnGlnArgGlnTyrArgSerAlaTyrTyrProGluAspLeuPheIleAspLysLysValLeuLysValAlaHisValGluHisGluGluThrLeuSerSerArgArgArgGluLeuIleGlnLysLeuLysSerPheIleSerPheTyrSerAlaLeuProGlyTyrIleCysSerHisSerProValAlaGluAsnAspThrLeuCysTrpAsnGlyGlnGluLeuValGluArgTyrSerGlnLysAlaAlaArgAsnGlyMetLysAsnGlnPheAsnLeuHisGluLeuLysMetLysGlyProGluProValValSerGlnIleIleAspLysLeuLysHisIleAsnGlnLeuLeuArgThrMetSerMetProLysGlyArgValLeuAspLysAsnLeuAspGluGluGlyPheGluSerGlyAspCysGlyAspAspGluAspGluCysIleGlyGlySerGlyAspGlyMetIleLysValLysAsnGlnLeuArgPheLeuAlaGluLeuAlaTyrAspLeuAspValAspAspAlaProGlyAsnSerGlnGlnAlaThrProLysAspAsnGluIleSerThrPheHisAsnLeuGlyAsnValHisSerProLeuLysLeuLeuThrSerMetAlaIleSerValValCysPhePhePheLeuValHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832103"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 925,
          "referenceAllele": "G",
          "start": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000370818.8:c.780G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359854.3:p.Trp260Ter",
        "hgvsWellDefined": "ENSP00000359854.3:p.Trp260_His580delinsTyrCysSerTyrCysGlnGlyLeuMetMetValLysProCysGlyGlyTyrCysAsnValValMetGlnGlyCysMetAlaGlyValValGluIleAspLysTyrTrpArgGluTyrIleLeuSerLeuGluGluLeuValAsnGlyMetTyrArgIleTyrAspMetGluAsnValLeuLeuGlyLeuPheSerThrIleHisAspSerIleGlnTyrValGlnLysAsnAlaGlyLysLeuThrThrThrIleGlyLysLeuCysAlaHisSerGlnGlnArgGlnTyrArgSerAlaTyrTyrProGluAspLeuPheIleAspLysLysValLeuLysValAlaHisValGluHisGluGluThrLeuSerSerArgArgArgGluLeuIleGlnLysLeuLysSerPheIleSerPheTyrSerAlaLeuProGlyTyrIleCysSerHisSerProValAlaGluAsnAspThrLeuCysTrpAsnGlyGlnGluLeuValGluArgTyrSerGlnLysAlaAlaArgAsnGlyMetLysAsnGlnPheAsnLeuHisGluLeuLysMetLysGlyProGluProValValSerGlnIleIleAspLysLeuLysHisIleAsnGlnLeuLeuArgThrMetSerMetProLysGlyArgValLeuAspLysAsnLeuAspGluGluGlyPheGluSerGlyAspCysGlyAspAspGluAspGluCysIleGlyGlySerGlyAspGlyMetIleLysValLysAsnGlnLeuArgPheLeuAlaGluLeuAlaTyrAspLeuAspValAspAspAlaProGlyAsnSerGlnGlnAlaThrProLysAspAsnGluIleSerThrPheHisAsnLeuGlyAsnValHisSerProLeuLysLeuLeuThrSerMetAlaIleSerValValCysPhePhePheLeuValHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750683",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370818.8:c.780G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004484.4:c.780G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359854.3:p.Trp260Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004475.1:p.Trp260Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 925,
          "referenceAllele": "G",
          "start": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000394299.7:c.780G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377836.2:p.Trp260Ter",
        "hgvsWellDefined": "ENSP00000377836.2:p.Trp260_His603delinsTyrCysSerTyrCysGlnGlyLeuMetMetValLysProCysGlyGlyTyrCysAsnValValMetGlnGlyCysMetAlaGlyValValGluIleAspLysTyrTrpArgGluTyrIleLeuSerLeuGluGluLeuValAsnGlyMetTyrArgIleTyrAspMetGluAsnValLeuLeuGlyLeuPheSerThrIleHisAspSerIleGlnTyrValGlnLysAsnAlaGlyLysLeuThrThrThrGluThrGluLysLysIleTrpHisPheLysTyrProIlePhePheLeuCysIleGlyLeuAspLeuGlnIleGlyLysLeuCysAlaHisSerGlnGlnArgGlnTyrArgSerAlaTyrTyrProGluAspLeuPheIleAspLysLysValLeuLysValAlaHisValGluHisGluGluThrLeuSerSerArgArgArgGluLeuIleGlnLysLeuLysSerPheIleSerPheTyrSerAlaLeuProGlyTyrIleCysSerHisSerProValAlaGluAsnAspThrLeuCysTrpAsnGlyGlnGluLeuValGluArgTyrSerGlnLysAlaAlaArgAsnGlyMetLysAsnGlnPheAsnLeuHisGluLeuLysMetLysGlyProGluProValValSerGlnIleIleAspLysLeuLysHisIleAsnGlnLeuLeuArgThrMetSerMetProLysGlyArgValLeuAspLysAsnLeuAspGluGluGlyPheGluSerGlyAspCysGlyAspAspGluAspGluCysIleGlyGlySerGlyAspGlyMetIleLysValLysAsnGlnLeuArgPheLeuAlaGluLeuAlaTyrAspLeuAspValAspAspAlaProGlyAsnSerGlnGlnAlaThrProLysAspAsnGluIleSerThrPheHisAsnLeuGlyAsnValHisSerProLeuLysLeuLeuThrSerMetAlaIleSerValValCysPhePhePheLeuValHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753240"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1226,
          "referenceAllele": "G",
          "start": 1225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000370818.7:c.780G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359854.3:p.Trp260Ter",
        "hgvsWellDefined": "ENSP00000359854.3:p.Trp260_His580delinsTyrCysSerTyrCysGlnGlyLeuMetMetValLysProCysGlyGlyTyrCysAsnValValMetGlnGlyCysMetAlaGlyValValGluIleAspLysTyrTrpArgGluTyrIleLeuSerLeuGluGluLeuValAsnGlyMetTyrArgIleTyrAspMetGluAsnValLeuLeuGlyLeuPheSerThrIleHisAspSerIleGlnTyrValGlnLysAsnAlaGlyLysLeuThrThrThrIleGlyLysLeuCysAlaHisSerGlnGlnArgGlnTyrArgSerAlaTyrTyrProGluAspLeuPheIleAspLysLysValLeuLysValAlaHisValGluHisGluGluThrLeuSerSerArgArgArgGluLeuIleGlnLysLeuLysSerPheIleSerPheTyrSerAlaLeuProGlyTyrIleCysSerHisSerProValAlaGluAsnAspThrLeuCysTrpAsnGlyGlnGluLeuValGluArgTyrSerGlnLysAlaAlaArgAsnGlyMetLysAsnGlnPheAsnLeuHisGluLeuLysMetLysGlyProGluProValValSerGlnIleIleAspLysLeuLysHisIleAsnGlnLeuLeuArgThrMetSerMetProLysGlyArgValLeuAspLysAsnLeuAspGluGluGlyPheGluSerGlyAspCysGlyAspAspGluAspGluCysIleGlyGlySerGlyAspGlyMetIleLysValLysAsnGlnLeuArgPheLeuAlaGluLeuAlaTyrAspLeuAspValAspAspAlaProGlyAsnSerGlnGlnAlaThrProLysAspAsnGluIleSerThrPheHisAsnLeuGlyAsnValHisSerProLeuLysLeuLeuThrSerMetAlaIleSerValValCysPhePhePheLeuValHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268264"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 977,
          "referenceAllele": "G",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000394299.6:c.780G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377836.2:p.Trp260Ter",
        "hgvsWellDefined": "ENSP00000377836.2:p.Trp260_His603delinsTyrCysSerTyrCysGlnGlyLeuMetMetValLysProCysGlyGlyTyrCysAsnValValMetGlnGlyCysMetAlaGlyValValGluIleAspLysTyrTrpArgGluTyrIleLeuSerLeuGluGluLeuValAsnGlyMetTyrArgIleTyrAspMetGluAsnValLeuLeuGlyLeuPheSerThrIleHisAspSerIleGlnTyrValGlnLysAsnAlaGlyLysLeuThrThrThrGluThrGluLysLysIleTrpHisPheLysTyrProIlePhePheLeuCysIleGlyLeuAspLeuGlnIleGlyLysLeuCysAlaHisSerGlnGlnArgGlnTyrArgSerAlaTyrTyrProGluAspLeuPheIleAspLysLysValLeuLysValAlaHisValGluHisGluGluThrLeuSerSerArgArgArgGluLeuIleGlnLysLeuLysSerPheIleSerPheTyrSerAlaLeuProGlyTyrIleCysSerHisSerProValAlaGluAsnAspThrLeuCysTrpAsnGlyGlnGluLeuValGluArgTyrSerGlnLysAlaAlaArgAsnGlyMetLysAsnGlnPheAsnLeuHisGluLeuLysMetLysGlyProGluProValValSerGlnIleIleAspLysLeuLysHisIleAsnGlnLeuLeuArgThrMetSerMetProLysGlyArgValLeuAspLysAsnLeuAspGluGluGlyPheGluSerGlyAspCysGlyAspAspGluAspGluCysIleGlyGlySerGlyAspGlyMetIleLysValLysAsnGlnLeuArgPheLeuAlaGluLeuAlaTyrAspLeuAspValAspAspAlaProGlyAsnSerGlnGlnAlaThrProLysAspAsnGluIleSerThrPheHisAsnLeuGlyAsnValHisSerProLeuLysLeuLeuThrSerMetAlaIleSerValValCysPhePhePheLeuValHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276102"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 618,
          "referenceAllele": "G",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000631057.2:c.618G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486325.1:p.Trp206Ter",
        "hgvsWellDefined": "ENSP00000486325.1:p.Trp206_His526delinsTyrCysSerTyrCysGlnGlyLeuMetMetValLysProCysGlyGlyTyrCysAsnValValMetGlnGlyCysMetAlaGlyValValGluIleAspLysTyrTrpArgGluTyrIleLeuSerLeuGluGluLeuValAsnGlyMetTyrArgIleTyrAspMetGluAsnValLeuLeuGlyLeuPheSerThrIleHisAspSerIleGlnTyrValGlnLysAsnAlaGlyLysLeuThrThrThrIleGlyLysLeuCysAlaHisSerGlnGlnArgGlnTyrArgSerAlaTyrTyrProGluAspLeuPheIleAspLysLysValLeuLysValAlaHisValGluHisGluGluThrLeuSerSerArgArgArgGluLeuIleGlnLysLeuLysSerPheIleSerPheTyrSerAlaLeuProGlyTyrIleCysSerHisSerProValAlaGluAsnAspThrLeuCysTrpAsnGlyGlnGluLeuValGluArgTyrSerGlnLysAlaAlaArgAsnGlyMetLysAsnGlnPheAsnLeuHisGluLeuLysMetLysGlyProGluProValValSerGlnIleIleAspLysLeuLysHisIleAsnGlnLeuLeuArgThrMetSerMetProLysGlyArgValLeuAspLysAsnLeuAspGluGluGlyPheGluSerGlyAspCysGlyAspAspGluAspGluCysIleGlyGlySerGlyAspGlyMetIleLysValLysAsnGlnLeuArgPheLeuAlaGluLeuAlaTyrAspLeuAspValAspAspAlaProGlyAsnSerGlnGlnAlaThrProLysAspAsnGluIleSerThrPheHisAsnLeuGlyAsnValHisSerProLeuLysLeuLeuThrSerMetAlaIleSerValValCysPhePhePheLeuValHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407469"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825996066",
      "coordinates": [
        {
          "allele": "A",
          "end": 977,
          "referenceAllele": "G",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_001164617.1:c.780G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158089.1:p.Trp260Ter",
        "hgvsWellDefined": "NP_001158089.1:p.Trp260_His603delinsTyrCysSerTyrCysGlnGlyLeuMetMetValLysProCysGlyGlyTyrCysAsnValValMetGlnGlyCysMetAlaGlyValValGluIleAspLysTyrTrpArgGluTyrIleLeuSerLeuGluGluLeuValAsnGlyMetTyrArgIleTyrAspMetGluAsnValLeuLeuGlyLeuPheSerThrIleHisAspSerIleGlnTyrValGlnLysAsnAlaGlyLysLeuThrThrThrGluThrGluLysLysIleTrpHisPheLysTyrProIlePhePheLeuCysIleGlyLeuAspLeuGlnIleGlyLysLeuCysAlaHisSerGlnGlnArgGlnTyrArgSerAlaTyrTyrProGluAspLeuPheIleAspLysLysValLeuLysValAlaHisValGluHisGluGluThrLeuSerSerArgArgArgGluLeuIleGlnLysLeuLysSerPheIleSerPheTyrSerAlaLeuProGlyTyrIleCysSerHisSerProValAlaGluAsnAspThrLeuCysTrpAsnGlyGlnGluLeuValGluArgTyrSerGlnLysAlaAlaArgAsnGlyMetLysAsnGlnPheAsnLeuHisGluLeuLysMetLysGlyProGluProValValSerGlnIleIleAspLysLeuLysHisIleAsnGlnLeuLeuArgThrMetSerMetProLysGlyArgValLeuAspLysAsnLeuAspGluGluGlyPheGluSerGlyAspCysGlyAspAspGluAspGluCysIleGlyGlySerGlyAspGlyMetIleLysValLysAsnGlnLeuArgPheLeuAlaGluLeuAlaTyrAspLeuAspValAspAspAlaProGlyAsnSerGlnGlnAlaThrProLysAspAsnGluIleSerThrPheHisAsnLeuGlyAsnValHisSerProLeuLysLeuLeuThrSerMetAlaIleSerValValCysPhePhePheLeuValHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014601"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825996558",
      "coordinates": [
        {
          "allele": "A",
          "end": 929,
          "referenceAllele": "G",
          "start": 928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_001164618.1:c.732G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158090.1:p.Trp244Ter",
        "hgvsWellDefined": "NP_001158090.1:p.Trp244_His564delinsTyrCysSerTyrCysGlnGlyLeuMetMetValLysProCysGlyGlyTyrCysAsnValValMetGlnGlyCysMetAlaGlyValValGluIleAspLysTyrTrpArgGluTyrIleLeuSerLeuGluGluLeuValAsnGlyMetTyrArgIleTyrAspMetGluAsnValLeuLeuGlyLeuPheSerThrIleHisAspSerIleGlnTyrValGlnLysAsnAlaGlyLysLeuThrThrThrIleGlyLysLeuCysAlaHisSerGlnGlnArgGlnTyrArgSerAlaTyrTyrProGluAspLeuPheIleAspLysLysValLeuLysValAlaHisValGluHisGluGluThrLeuSerSerArgArgArgGluLeuIleGlnLysLeuLysSerPheIleSerPheTyrSerAlaLeuProGlyTyrIleCysSerHisSerProValAlaGluAsnAspThrLeuCysTrpAsnGlyGlnGluLeuValGluArgTyrSerGlnLysAlaAlaArgAsnGlyMetLysAsnGlnPheAsnLeuHisGluLeuLysMetLysGlyProGluProValValSerGlnIleIleAspLysLeuLysHisIleAsnGlnLeuLeuArgThrMetSerMetProLysGlyArgValLeuAspLysAsnLeuAspGluGluGlyPheGluSerGlyAspCysGlyAspAspGluAspGluCysIleGlyGlySerGlyAspGlyMetIleLysValLysAsnGlnLeuArgPheLeuAlaGluLeuAlaTyrAspLeuAspValAspAspAlaProGlyAsnSerGlnGlnAlaThrProLysAspAsnGluIleSerThrPheHisAsnLeuGlyAsnValHisSerProLeuLysLeuLeuThrSerMetAlaIleSerValValCysPhePhePheLeuValHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014602"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825997173",
      "coordinates": [
        {
          "allele": "A",
          "end": 815,
          "referenceAllele": "G",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_001164619.1:c.618G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158091.1:p.Trp206Ter",
        "hgvsWellDefined": "NP_001158091.1:p.Trp206_His526delinsTyrCysSerTyrCysGlnGlyLeuMetMetValLysProCysGlyGlyTyrCysAsnValValMetGlnGlyCysMetAlaGlyValValGluIleAspLysTyrTrpArgGluTyrIleLeuSerLeuGluGluLeuValAsnGlyMetTyrArgIleTyrAspMetGluAsnValLeuLeuGlyLeuPheSerThrIleHisAspSerIleGlnTyrValGlnLysAsnAlaGlyLysLeuThrThrThrIleGlyLysLeuCysAlaHisSerGlnGlnArgGlnTyrArgSerAlaTyrTyrProGluAspLeuPheIleAspLysLysValLeuLysValAlaHisValGluHisGluGluThrLeuSerSerArgArgArgGluLeuIleGlnLysLeuLysSerPheIleSerPheTyrSerAlaLeuProGlyTyrIleCysSerHisSerProValAlaGluAsnAspThrLeuCysTrpAsnGlyGlnGluLeuValGluArgTyrSerGlnLysAlaAlaArgAsnGlyMetLysAsnGlnPheAsnLeuHisGluLeuLysMetLysGlyProGluProValValSerGlnIleIleAspLysLeuLysHisIleAsnGlnLeuLeuArgThrMetSerMetProLysGlyArgValLeuAspLysAsnLeuAspGluGluGlyPheGluSerGlyAspCysGlyAspAspGluAspGluCysIleGlyGlySerGlyAspGlyMetIleLysValLysAsnGlnLeuArgPheLeuAlaGluLeuAlaTyrAspLeuAspValAspAspAlaProGlyAsnSerGlnGlnAlaThrProLysAspAsnGluIleSerThrPheHisAsnLeuGlyAsnValHisSerProLeuLysLeuLeuThrSerMetAlaIleSerValValCysPhePhePheLeuValHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014603"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829523812",
      "coordinates": [
        {
          "allele": "A",
          "end": 977,
          "referenceAllele": "G",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_004484.3:c.780G>A",
        "LRG_505t1:c.780G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004475.1:p.Trp260Ter",
        "hgvsWellDefined": "NP_004475.1:p.Trp260_His580delinsTyrCysSerTyrCysGlnGlyLeuMetMetValLysProCysGlyGlyTyrCysAsnValValMetGlnGlyCysMetAlaGlyValValGluIleAspLysTyrTrpArgGluTyrIleLeuSerLeuGluGluLeuValAsnGlyMetTyrArgIleTyrAspMetGluAsnValLeuLeuGlyLeuPheSerThrIleHisAspSerIleGlnTyrValGlnLysAsnAlaGlyLysLeuThrThrThrIleGlyLysLeuCysAlaHisSerGlnGlnArgGlnTyrArgSerAlaTyrTyrProGluAspLeuPheIleAspLysLysValLeuLysValAlaHisValGluHisGluGluThrLeuSerSerArgArgArgGluLeuIleGlnLysLeuLysSerPheIleSerPheTyrSerAlaLeuProGlyTyrIleCysSerHisSerProValAlaGluAsnAspThrLeuCysTrpAsnGlyGlnGluLeuValGluArgTyrSerGlnLysAlaAlaArgAsnGlyMetLysAsnGlnPheAsnLeuHisGluLeuLysMetLysGlyProGluProValValSerGlnIleIleAspLysLeuLysHisIleAsnGlnLeuLeuArgThrMetSerMetProLysGlyArgValLeuAspLysAsnLeuAspGluGluGlyPheGluSerGlyAspCysGlyAspAspGluAspGluCysIleGlyGlySerGlyAspGlyMetIleLysValLysAsnGlnLeuArgPheLeuAlaGluLeuAlaTyrAspLeuAspValAspAspAlaProGlyAsnSerGlnGlnAlaThrProLysAspAsnGluIleSerThrPheHisAsnLeuGlyAsnValHisSerProLeuLysLeuLeuThrSerMetAlaIleSerValValCysPhePhePheLeuValHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029644"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 947,
          "referenceAllele": "G",
          "start": 946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "XM_017029413.2:c.780G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884902.1:p.Trp260Ter",
        "hgvsWellDefined": "XP_016884902.1:p.Trp260_Leu486delinsTyrCysSerTyrCysGlnGlyLeuMetMetValLysProCysGlyGlyTyrCysAsnValValMetGlnGlyCysMetAlaGlyValValGluIleAspLysTyrTrpArgGluTyrIleLeuSerLeuGluGluLeuValAsnGlyMetTyrArgIleTyrAspMetGluAsnValLeuLeuGlyLeuPheSerThrIleHisAspSerIleGlnTyrValGlnLysAsnAlaGlyLysLeuThrThrThrIleGlyLysLeuCysAlaHisSerGlnGlnArgGlnTyrArgSerAlaTyrTyrProGluAspLeuPheIleAspLysLysValLeuLysValAlaHisValGluHisGluGluThrLeuSerSerArgArgArgGluLeuIleGlnLysLeuLysSerPheIleSerPheTyrSerAlaLeuProGlyTyrIleCysSerHisSerProValAlaGluAsnAspThrLeuCysTrpAsnGlyGlnGluLeuValGluArgTyrIleGlnLysAsnThrGluGluProPheLeuProLeuPheThrThrTyrSerArgAspAlaThrGlnGluLysAsnProProGlyThrLeuPheProValSerAspLeuProLeuSerGlnThrCysLeuGluSerValLysSerAspCysLeuGlyGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578957"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825996066",
      "coordinates": [
        {
          "allele": "A",
          "end": 925,
          "referenceAllele": "G",
          "start": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_001164617.2:c.780G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158089.1:p.Trp260Ter",
        "hgvsWellDefined": "NP_001158089.1:p.Trp260_His603delinsTyrCysSerTyrCysGlnGlyLeuMetMetValLysProCysGlyGlyTyrCysAsnValValMetGlnGlyCysMetAlaGlyValValGluIleAspLysTyrTrpArgGluTyrIleLeuSerLeuGluGluLeuValAsnGlyMetTyrArgIleTyrAspMetGluAsnValLeuLeuGlyLeuPheSerThrIleHisAspSerIleGlnTyrValGlnLysAsnAlaGlyLysLeuThrThrThrGluThrGluLysLysIleTrpHisPheLysTyrProIlePhePheLeuCysIleGlyLeuAspLeuGlnIleGlyLysLeuCysAlaHisSerGlnGlnArgGlnTyrArgSerAlaTyrTyrProGluAspLeuPheIleAspLysLysValLeuLysValAlaHisValGluHisGluGluThrLeuSerSerArgArgArgGluLeuIleGlnLysLeuLysSerPheIleSerPheTyrSerAlaLeuProGlyTyrIleCysSerHisSerProValAlaGluAsnAspThrLeuCysTrpAsnGlyGlnGluLeuValGluArgTyrSerGlnLysAlaAlaArgAsnGlyMetLysAsnGlnPheAsnLeuHisGluLeuLysMetLysGlyProGluProValValSerGlnIleIleAspLysLeuLysHisIleAsnGlnLeuLeuArgThrMetSerMetProLysGlyArgValLeuAspLysAsnLeuAspGluGluGlyPheGluSerGlyAspCysGlyAspAspGluAspGluCysIleGlyGlySerGlyAspGlyMetIleLysValLysAsnGlnLeuArgPheLeuAlaGluLeuAlaTyrAspLeuAspValAspAspAlaProGlyAsnSerGlnGlnAlaThrProLysAspAsnGluIleSerThrPheHisAsnLeuGlyAsnValHisSerProLeuLysLeuLeuThrSerMetAlaIleSerValValCysPhePhePheLeuValHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825996558",
      "coordinates": [
        {
          "allele": "A",
          "end": 877,
          "referenceAllele": "G",
          "start": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_001164618.2:c.732G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158090.1:p.Trp244Ter",
        "hgvsWellDefined": "NP_001158090.1:p.Trp244_His564delinsTyrCysSerTyrCysGlnGlyLeuMetMetValLysProCysGlyGlyTyrCysAsnValValMetGlnGlyCysMetAlaGlyValValGluIleAspLysTyrTrpArgGluTyrIleLeuSerLeuGluGluLeuValAsnGlyMetTyrArgIleTyrAspMetGluAsnValLeuLeuGlyLeuPheSerThrIleHisAspSerIleGlnTyrValGlnLysAsnAlaGlyLysLeuThrThrThrIleGlyLysLeuCysAlaHisSerGlnGlnArgGlnTyrArgSerAlaTyrTyrProGluAspLeuPheIleAspLysLysValLeuLysValAlaHisValGluHisGluGluThrLeuSerSerArgArgArgGluLeuIleGlnLysLeuLysSerPheIleSerPheTyrSerAlaLeuProGlyTyrIleCysSerHisSerProValAlaGluAsnAspThrLeuCysTrpAsnGlyGlnGluLeuValGluArgTyrSerGlnLysAlaAlaArgAsnGlyMetLysAsnGlnPheAsnLeuHisGluLeuLysMetLysGlyProGluProValValSerGlnIleIleAspLysLeuLysHisIleAsnGlnLeuLeuArgThrMetSerMetProLysGlyArgValLeuAspLysAsnLeuAspGluGluGlyPheGluSerGlyAspCysGlyAspAspGluAspGluCysIleGlyGlySerGlyAspGlyMetIleLysValLysAsnGlnLeuArgPheLeuAlaGluLeuAlaTyrAspLeuAspValAspAspAlaProGlyAsnSerGlnGlnAlaThrProLysAspAsnGluIleSerThrPheHisAsnLeuGlyAsnValHisSerProLeuLysLeuLeuThrSerMetAlaIleSerValValCysPhePhePheLeuValHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825997173",
      "coordinates": [
        {
          "allele": "A",
          "end": 763,
          "referenceAllele": "G",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_001164619.2:c.618G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158091.1:p.Trp206Ter",
        "hgvsWellDefined": "NP_001158091.1:p.Trp206_His526delinsTyrCysSerTyrCysGlnGlyLeuMetMetValLysProCysGlyGlyTyrCysAsnValValMetGlnGlyCysMetAlaGlyValValGluIleAspLysTyrTrpArgGluTyrIleLeuSerLeuGluGluLeuValAsnGlyMetTyrArgIleTyrAspMetGluAsnValLeuLeuGlyLeuPheSerThrIleHisAspSerIleGlnTyrValGlnLysAsnAlaGlyLysLeuThrThrThrIleGlyLysLeuCysAlaHisSerGlnGlnArgGlnTyrArgSerAlaTyrTyrProGluAspLeuPheIleAspLysLysValLeuLysValAlaHisValGluHisGluGluThrLeuSerSerArgArgArgGluLeuIleGlnLysLeuLysSerPheIleSerPheTyrSerAlaLeuProGlyTyrIleCysSerHisSerProValAlaGluAsnAspThrLeuCysTrpAsnGlyGlnGluLeuValGluArgTyrSerGlnLysAlaAlaArgAsnGlyMetLysAsnGlnPheAsnLeuHisGluLeuLysMetLysGlyProGluProValValSerGlnIleIleAspLysLeuLysHisIleAsnGlnLeuLeuArgThrMetSerMetProLysGlyArgValLeuAspLysAsnLeuAspGluGluGlyPheGluSerGlyAspCysGlyAspAspGluAspGluCysIleGlyGlySerGlyAspGlyMetIleLysValLysAsnGlnLeuArgPheLeuAlaGluLeuAlaTyrAspLeuAspValAspAspAlaProGlyAsnSerGlnGlnAlaThrProLysAspAsnGluIleSerThrPheHisAsnLeuGlyAsnValHisSerProLeuLysLeuLeuThrSerMetAlaIleSerValValCysPhePhePheLeuValHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678351"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829523812",
      "coordinates": [
        {
          "allele": "A",
          "end": 925,
          "referenceAllele": "G",
          "start": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_004484.4:c.780G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004475.1:p.Trp260Ter",
        "hgvsWellDefined": "NP_004475.1:p.Trp260_His580delinsTyrCysSerTyrCysGlnGlyLeuMetMetValLysProCysGlyGlyTyrCysAsnValValMetGlnGlyCysMetAlaGlyValValGluIleAspLysTyrTrpArgGluTyrIleLeuSerLeuGluGluLeuValAsnGlyMetTyrArgIleTyrAspMetGluAsnValLeuLeuGlyLeuPheSerThrIleHisAspSerIleGlnTyrValGlnLysAsnAlaGlyLysLeuThrThrThrIleGlyLysLeuCysAlaHisSerGlnGlnArgGlnTyrArgSerAlaTyrTyrProGluAspLeuPheIleAspLysLysValLeuLysValAlaHisValGluHisGluGluThrLeuSerSerArgArgArgGluLeuIleGlnLysLeuLysSerPheIleSerPheTyrSerAlaLeuProGlyTyrIleCysSerHisSerProValAlaGluAsnAspThrLeuCysTrpAsnGlyGlnGluLeuValGluArgTyrSerGlnLysAlaAlaArgAsnGlyMetLysAsnGlnPheAsnLeuHisGluLeuLysMetLysGlyProGluProValValSerGlnIleIleAspLysLeuLysHisIleAsnGlnLeuLeuArgThrMetSerMetProLysGlyArgValLeuAspLysAsnLeuAspGluGluGlyPheGluSerGlyAspCysGlyAspAspGluAspGluCysIleGlyGlySerGlyAspGlyMetIleLysValLysAsnGlnLeuArgPheLeuAlaGluLeuAlaTyrAspLeuAspValAspAspAlaProGlyAsnSerGlnGlnAlaThrProLysAspAsnGluIleSerThrPheHisAsnLeuGlyAsnValHisSerProLeuLysLeuLeuThrSerMetAlaIleSerValValCysPhePhePheLeuValHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696153",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370818.8:c.780G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004484.4:c.780G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359854.3:p.Trp260Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004475.1:p.Trp260Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}