{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA129514",
  "communityStandardTitle": [
    "NM_017565.4(FAM20A):c.406C>T (p.Arg136Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4682897"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39836[alleleid]",
        "alleleId": 39836,
        "preferredName": "NM_017565.4(FAM20A):c.406C>T (p.Arg136Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30879",
        "RCV": [
          "RCV000023864",
          "RCV002513210"
        ],
        "variationId": 30879
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-66551883-G-A",
        "id": "17-66551883-G-A",
        "variant": "17:66551883 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.66551883G>A?assembly=hg19",
        "id": "chr17:g.66551883G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.68555742G>A?assembly=hg38",
        "id": "chr17:g.68555742G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/144411158",
        "rs": 144411158
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-66551883-G-A?dataset=gnomad_r2_1",
        "id": "17-66551883-G-A",
        "variant": "17:66551883 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-68555742-G-A?dataset=gnomad_r3",
        "id": "17-68555742-G-A",
        "variant": "17:68555742 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-68555742-G-A?dataset=gnomad_r4",
        "id": "17-68555742-G-A",
        "variant": "17:68555742 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 68555742,
          "referenceAllele": "G",
          "start": 68555741
        }
      ],
      "hgvs": [
        "NC_000017.11:g.68555742G>A",
        "CM000679.2:g.68555742G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 66551883,
          "referenceAllele": "G",
          "start": 66551882
        }
      ],
      "hgvs": [
        "NC_000017.10:g.66551883G>A",
        "CM000679.1:g.66551883G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 64063478,
          "referenceAllele": "G",
          "start": 64063477
        }
      ],
      "hgvs": [
        "NC_000017.9:g.64063478G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 50213,
          "referenceAllele": "C",
          "start": 50212
        }
      ],
      "hgvs": [
        "NG_029809.1:g.50213C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004676"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1107,
          "referenceAllele": "C",
          "start": 1106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "ENST00000592554.2:c.406C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468308.1:p.Arg136Ter",
        "hgvsWellDefined": "ENSP00000468308.1:p.Arg136_Ser541delinsHisLysMetTyrArgGluGlnMetAsnLeuThrSerLeuAspProProLeuGlnLeuArgLeuGluAlaSerTrpValGlnPheHisLeuGlyIleAsnArgHisGlyLeuTyrSerArgSerSerProValValSerLysLeuLeuGlnAspMetArgHisPheProThrIleSerAlaAspTyrSerGlnAspGluLysAlaLeuLeuGlyAlaCysAspCysThrGlnIleValLysProSerGlyValHisLeuLysLeuValLeuArgPheSerAspPheGlyLysAlaMetPheLysProMetArgGlnGlnArgAspGluGluThrProValAspPhePheTyrPheIleAspPheGlnArgHisAsnAlaGluIleAlaAlaPheHisLeuAspArgIleLeuAspPheArgArgValProProThrValGlyArgIleValAsnValThrLysGluIleLeuGluValThrLysAsnGluIleLeuGlnSerValPhePheValSerProAlaSerAsnValCysPhePheAlaLysCysProTyrMetCysLysThrGluTyrAlaValCysGlyAsnProHisLeuLeuGluGlySerLeuSerAlaPheLeuProSerLeuAsnLeuAlaProArgLeuSerValProAsnProTrpIleArgSerTyrThrLeuAlaGlyLysGluGluTrpGluValAsnProLeuTyrCysAspThrValLysGlnIleTyrProTyrAsnAsnSerGlnArgLeuLeuAsnValIleAspMetAlaIlePheAspPheLeuIleGlyAsnMetAspArgHisHisTyrGluMetPheThrLysPheGlyAspAspGlyPheLeuIleHisLeuAspAsnAlaArgGlyPheGlyArgHisSerHisAspGluIleSerIleLeuSerProLeuSerGlnCysCysMetIleLysLysLysThrLeuLeuHisLeuGlnLeuLeuAlaGlnAlaAspTyrArgLeuSerAspValMetArgGluSerLeuLeuGluAspGlnLeuSerProValLeuThrGluProHisLeuLeuAlaLeuAspArgArgLeuGlnThrIleLeuArgThrValGluGlyCysIleValAlaHisGlyGlnGlnSerValIleValAspGlyProValGluGlnLeuAlaProAspSerGlyGlnAlaAsnLeuThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761286",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000592554.2:c.406C>T"
          },
          "RefSeq": {
            "hgvs": "NM_017565.4:c.406C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000468308.1:p.Arg136Ter"
          },
          "RefSeq": {
            "hgvs": "NP_060035.2:p.Arg136Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 63,
          "referenceAllele": "C",
          "start": 62
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "ENST00000226094.9:n.63C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS248544"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 562,
          "referenceAllele": "C",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "ENST00000590074.5:c.562C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391929"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1129,
          "referenceAllele": "C",
          "start": 1128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "ENST00000592554.1:c.406C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468308.1:p.Arg136Ter",
        "hgvsWellDefined": "ENSP00000468308.1:p.Arg136_Ser541delinsHisLysMetTyrArgGluGlnMetAsnLeuThrSerLeuAspProProLeuGlnLeuArgLeuGluAlaSerTrpValGlnPheHisLeuGlyIleAsnArgHisGlyLeuTyrSerArgSerSerProValValSerLysLeuLeuGlnAspMetArgHisPheProThrIleSerAlaAspTyrSerGlnAspGluLysAlaLeuLeuGlyAlaCysAspCysThrGlnIleValLysProSerGlyValHisLeuLysLeuValLeuArgPheSerAspPheGlyLysAlaMetPheLysProMetArgGlnGlnArgAspGluGluThrProValAspPhePheTyrPheIleAspPheGlnArgHisAsnAlaGluIleAlaAlaPheHisLeuAspArgIleLeuAspPheArgArgValProProThrValGlyArgIleValAsnValThrLysGluIleLeuGluValThrLysAsnGluIleLeuGlnSerValPhePheValSerProAlaSerAsnValCysPhePheAlaLysCysProTyrMetCysLysThrGluTyrAlaValCysGlyAsnProHisLeuLeuGluGlySerLeuSerAlaPheLeuProSerLeuAsnLeuAlaProArgLeuSerValProAsnProTrpIleArgSerTyrThrLeuAlaGlyLysGluGluTrpGluValAsnProLeuTyrCysAspThrValLysGlnIleTyrProTyrAsnAsnSerGlnArgLeuLeuAsnValIleAspMetAlaIlePheAspPheLeuIleGlyAsnMetAspArgHisHisTyrGluMetPheThrLysPheGlyAspAspGlyPheLeuIleHisLeuAspAsnAlaArgGlyPheGlyArgHisSerHisAspGluIleSerIleLeuSerProLeuSerGlnCysCysMetIleLysLysLysThrLeuLeuHisLeuGlnLeuLeuAlaGlnAlaAspTyrArgLeuSerAspValMetArgGluSerLeuLeuGluAspGlnLeuSerProValLeuThrGluProHisLeuLeuAlaLeuAspArgArgLeuGlnThrIleLeuArgThrValGluGlyCysIleValAlaHisGlyGlnGlnSerValIleValAspGlyProValGluGlnLeuAlaProAspSerGlyGlnAlaAsnLeuThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393649"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 48,
          "referenceAllele": "C",
          "start": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "ENST00000592847.1:n.48C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393847"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 920,
          "referenceAllele": "C",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "NM_001243746.1:c.-9C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230675.1:n.-9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018582"
    },
    {
      "@id": "http://reg.genome.network/allele/PA129515",
      "coordinates": [
        {
          "allele": "T",
          "end": 694,
          "referenceAllele": "C",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "NM_017565.3:c.406C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060035.2:p.Arg136Ter",
        "hgvsWellDefined": "NP_060035.2:p.Arg136_Ser541delinsHisLysMetTyrArgGluGlnMetAsnLeuThrSerLeuAspProProLeuGlnLeuArgLeuGluAlaSerTrpValGlnPheHisLeuGlyIleAsnArgHisGlyLeuTyrSerArgSerSerProValValSerLysLeuLeuGlnAspMetArgHisPheProThrIleSerAlaAspTyrSerGlnAspGluLysAlaLeuLeuGlyAlaCysAspCysThrGlnIleValLysProSerGlyValHisLeuLysLeuValLeuArgPheSerAspPheGlyLysAlaMetPheLysProMetArgGlnGlnArgAspGluGluThrProValAspPhePheTyrPheIleAspPheGlnArgHisAsnAlaGluIleAlaAlaPheHisLeuAspArgIleLeuAspPheArgArgValProProThrValGlyArgIleValAsnValThrLysGluIleLeuGluValThrLysAsnGluIleLeuGlnSerValPhePheValSerProAlaSerAsnValCysPhePheAlaLysCysProTyrMetCysLysThrGluTyrAlaValCysGlyAsnProHisLeuLeuGluGlySerLeuSerAlaPheLeuProSerLeuAsnLeuAlaProArgLeuSerValProAsnProTrpIleArgSerTyrThrLeuAlaGlyLysGluGluTrpGluValAsnProLeuTyrCysAspThrValLysGlnIleTyrProTyrAsnAsnSerGlnArgLeuLeuAsnValIleAspMetAlaIlePheAspPheLeuIleGlyAsnMetAspArgHisHisTyrGluMetPheThrLysPheGlyAspAspGlyPheLeuIleHisLeuAspAsnAlaArgGlyPheGlyArgHisSerHisAspGluIleSerIleLeuSerProLeuSerGlnCysCysMetIleLysLysLysThrLeuLeuHisLeuGlnLeuLeuAlaGlnAlaAspTyrArgLeuSerAspValMetArgGluSerLeuLeuGluAspGlnLeuSerProValLeuThrGluProHisLeuLeuAlaLeuAspArgArgLeuGlnThrIleLeuArgThrValGluGlyCysIleValAlaHisGlyGlnGlnSerValIleValAspGlyProValGluGlnLeuAlaProAspSerGlyGlnAlaAsnLeuThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 100,
          "referenceAllele": "C",
          "start": 99
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "NR_027751.1:n.100C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047855"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 66,
          "referenceAllele": "C",
          "start": 65
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XM_006721959.2:c.-9C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722022.1:n.-9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 534,
          "referenceAllele": "C",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XM_006721960.2:c.406C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722023.1:p.Arg136Ter",
        "hgvsWellDefined": "XP_006722023.1:p.Arg136_Leu386delinsHisLysMetTyrArgGluGlnMetAsnLeuThrSerLeuAspProProLeuGlnLeuArgLeuGluAlaSerTrpValGlnPheHisLeuGlyIleAsnArgHisGlyLeuTyrSerArgSerSerProValValSerLysLeuLeuGlnAspMetArgHisPheProThrIleSerAlaAspTyrSerGlnAspGluLysAlaLeuLeuGlyAlaCysAspCysThrGlnIleValLysProSerGlyValHisLeuLysLeuValLeuArgPheSerAspPheGlyLysAlaMetPheLysProMetArgGlnGlnArgAspGluGluThrProValAspPhePheTyrPheIleAspPheGlnArgHisAsnAlaGluIleAlaAlaPheHisLeuAspArgIleLeuAspPheArgArgValProProThrValGlyArgIleValAsnValThrLysGluIleLeuGluValThrLysAsnGluIleLeuGlnSerValPhePheValSerProAlaSerAsnValCysPhePheAlaLysCysProTyrMetCysLysThrGluTyrAlaValCysGlyAsnProHisLeuLeuGluGlySerLeuSerAlaPheLeuProSerLeuAsnLeuAlaProArgLeuSerValProAsnProTrpIleArgSerTyrThrLeuAlaGlyLysGluAspProArgThrSerSerProProGlnValGlyGlyGlnSerProLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 534,
          "referenceAllele": "C",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XM_011524917.1:c.406C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523219.1:p.Arg136Ter",
        "hgvsWellDefined": "XP_011523219.1:p.Arg136_Ser501delinsHisLysMetTyrArgGluGlnMetAsnLeuThrSerLeuAspProProLeuGlnLeuArgLeuGluAlaSerTrpValGlnPheHisLeuGlyIleAsnArgHisGlyLeuTyrSerArgSerSerProValValSerLysLeuLeuGlnAspMetArgHisPheProThrIleSerAlaAspTyrSerGlnAspGluLysAlaLeuLeuGlyAlaCysAspCysThrGlnIleValLysProSerGlyValHisLeuLysLeuValLeuArgPheSerAspPheGlyLysAlaMetPheLysProMetSerSerGluMetArgArgHisGlnTrpThrSerSerThrSerLeuThrPheArgAspThrMetLeuArgSerGlnLeuSerIleTrpThrAlaSerAsnValCysPhePheAlaLysCysProTyrMetCysLysThrGluTyrAlaValCysGlyAsnProHisLeuLeuGluGlySerLeuSerAlaPheLeuProSerLeuAsnLeuAlaProArgLeuSerValProAsnProTrpIleArgSerTyrThrLeuAlaGlyLysGluGluTrpGluValAsnProLeuTyrCysAspThrValLysGlnIleTyrProTyrAsnAsnSerGlnArgLeuLeuAsnValIleAspMetAlaIlePheAspPheLeuIleGlyAsnMetAspArgHisHisTyrGluMetPheThrLysPheGlyAspAspGlyPheLeuIleHisLeuAspAsnAlaArgGlyPheGlyArgHisSerHisAspGluIleSerIleLeuSerProLeuSerGlnCysCysMetIleLysLysLysThrLeuLeuHisLeuGlnLeuLeuAlaGlnAlaAspTyrArgLeuSerAspValMetArgGluSerLeuLeuGluAspGlnLeuSerProValLeuThrGluProHisLeuLeuAlaLeuAspArgArgLeuGlnThrIleLeuArgThrValGluGlyCysIleValAlaHisGlyGlnGlnSerValIleValAspGlyProValGluGlnLeuAlaProAspSerGlyGlnAlaAsnLeuThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092036"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 534,
          "referenceAllele": "C",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XM_011524918.1:c.406C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523220.1:p.Arg136Ter",
        "hgvsWellDefined": "XP_011523220.1:p.Arg136_Thr371delinsHisLysMetTyrArgGluGlnMetAsnLeuThrSerLeuAspProProLeuGlnLeuArgLeuGluAlaSerTrpValGlnPheHisLeuGlyIleAsnArgHisGlyLeuTyrSerArgSerSerProValValSerLysLeuLeuGlnAspMetArgHisPheProThrIleSerAlaAspTyrSerGlnAspGluLysAlaLeuLeuGlyAlaCysAspCysThrGlnIleValLysProSerGlyValHisLeuLysLeuValLeuArgPheSerAspPheGlyLysAlaMetPheLysProMetArgGlnGlnArgAspGluGluThrProValAspPhePheTyrPheIleAspPheGlnArgHisAsnAlaGluIleAlaAlaPheHisLeuAspArgIleLeuAspPheArgArgValProProThrValGlyArgIleValAsnValThrLysGluIleLeuGluValThrLysAsnGluIleLeuGlnSerValPhePheValSerProAlaSerAsnValCysPhePheAlaLysCysProTyrMetCysLysThrGluTyrAlaValCysGlyAsnProHisLeuLeuGluGlySerLeuSerAlaPheLeuProSerLeuAsnLeuAlaProArgLeuSerValProAsnProTrpIleArgSerTyrThrLeuAlaGlyLysGluGluThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092037"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 534,
          "referenceAllele": "C",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XM_011524919.1:c.406C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523221.1:p.Arg136Ter",
        "hgvsWellDefined": "XP_011523221.1:p.Arg136_Cys355delinsHisLysMetTyrArgGluGlnMetAsnLeuThrSerLeuAspProProLeuGlnLeuArgLeuGluAlaSerTrpValGlnPheHisLeuGlyIleAsnArgHisGlyLeuTyrSerArgSerSerProValValSerLysLeuLeuGlnAspMetArgHisPheProThrIleSerAlaAspTyrSerGlnAspGluLysAlaLeuLeuGlyAlaCysAspCysThrGlnIleValLysProSerGlyValHisLeuLysLeuValLeuArgPheSerAspPheGlyLysAlaMetPheLysProMetArgGlnGlnArgAspGluGluThrProValAspPhePheTyrPheIleAspPheGlnArgHisAsnAlaGluIleAlaAlaPheHisLeuAspSerGluGlnArgValLeuLeuArgGlnValSerIleHisValGlnAspGlyValCysCysLeuTrpGlnProThrProAlaGlyGlyPheProLeuCysLeuProAlaValProGlnProGlyProGlnAlaValCysAlaGlnProLeuAspProLeuLeuHisThrGlyArgLysArgGlyValSerTrpSerProGlyHisThrAlaGlnSerLeuThrValAlaThrAspProValProGlyThrCysCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092038"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 534,
          "referenceAllele": "C",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XM_011524920.1:c.406C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523222.1:p.Arg136Ter",
        "hgvsWellDefined": "XP_011523222.1:p.Arg136_Asp347delinsHisLysMetTyrArgGluGlnMetAsnLeuThrSerLeuAspProProLeuGlnLeuArgLeuGluAlaSerTrpValGlnPheHisLeuGlyIleAsnArgHisGlyLeuTyrSerArgSerSerProValValSerLysLeuLeuGlnAspMetArgHisPheProThrIleSerAlaAspTyrSerGlnAspGluLysAlaLeuLeuGlyAlaCysAspCysThrGlnIleValLysProSerGlyValHisLeuLysLeuValLeuArgPheSerAspPheGlyLysAlaMetPheLysProMetArgGlnGlnArgAspGluGluThrProValAspPhePheTyrPheIleAspPheGlnArgHisAsnAlaGluIleAlaAlaPheHisLeuAspSerGluGlnArgValLeuLeuArgGlnValSerIleHisValGlnAspGlyValCysCysLeuTrpGlnProThrProAlaGlyGlyPheProLeuCysLeuProAlaValProGlnProGlyProGlnAlaValCysAlaGlnProLeuAspProLeuLeuHisThrGlyArgLysArgGlyAspLeuAlaProSerLeuAlaHisSerArgTyrSerThrLeuAlaAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092039"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 534,
          "referenceAllele": "C",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XM_011524921.1:c.406C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523223.1:p.Arg136Ter",
        "hgvsWellDefined": "XP_011523223.1:p.Arg136_Leu339delinsHisLysMetTyrArgGluGlnMetAsnLeuThrSerLeuAspProProLeuGlnLeuArgLeuGluAlaSerTrpValGlnPheHisLeuGlyIleAsnArgHisGlyLeuTyrSerArgSerSerProValValSerLysLeuLeuGlnAspMetArgHisPheProThrIleSerAlaAspTyrSerGlnAspGluLysAlaLeuLeuGlyAlaCysAspCysThrGlnIleValLysProSerGlyValHisLeuLysLeuValLeuArgPheSerAspPheGlyLysAlaMetPheLysProMetArgGlnGlnArgAspGluGluThrProValAspPhePheTyrPheIleAspPheGlnArgHisAsnAlaGluIleAlaAlaPheHisLeuAspSerGluGlnArgValLeuLeuArgGlnValSerIleHisValGlnAspGlyValCysCysLeuTrpGlnProThrProAlaGlyGlyPheProLeuCysLeuProAlaValProGlnProGlyProGlnAlaValCysAlaGlnProLeuAspProLeuLeuHisThrGlyArgLysArgGlyValGlyGlyGlnSerProLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092040"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 534,
          "referenceAllele": "C",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XR_429905.1:n.534C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118516"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 534,
          "referenceAllele": "C",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XR_934486.1:n.534C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 534,
          "referenceAllele": "C",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XR_934487.1:n.534C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129800"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 534,
          "referenceAllele": "C",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XR_934488.1:n.534C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129801"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 534,
          "referenceAllele": "C",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XR_934489.1:n.534C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129802"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 534,
          "referenceAllele": "C",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XR_934490.1:n.534C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129803"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 66,
          "referenceAllele": "C",
          "start": 65
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XM_006721959.3:c.-9C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722022.1:n.-9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540429"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 477,
          "referenceAllele": "C",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XM_011524918.3:c.406C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523220.1:p.Arg136Ter",
        "hgvsWellDefined": "XP_011523220.1:p.Arg136_Thr371delinsHisLysMetTyrArgGluGlnMetAsnLeuThrSerLeuAspProProLeuGlnLeuArgLeuGluAlaSerTrpValGlnPheHisLeuGlyIleAsnArgHisGlyLeuTyrSerArgSerSerProValValSerLysLeuLeuGlnAspMetArgHisPheProThrIleSerAlaAspTyrSerGlnAspGluLysAlaLeuLeuGlyAlaCysAspCysThrGlnIleValLysProSerGlyValHisLeuLysLeuValLeuArgPheSerAspPheGlyLysAlaMetPheLysProMetArgGlnGlnArgAspGluGluThrProValAspPhePheTyrPheIleAspPheGlnArgHisAsnAlaGluIleAlaAlaPheHisLeuAspArgIleLeuAspPheArgArgValProProThrValGlyArgIleValAsnValThrLysGluIleLeuGluValThrLysAsnGluIleLeuGlnSerValPhePheValSerProAlaSerAsnValCysPhePheAlaLysCysProTyrMetCysLysThrGluTyrAlaValCysGlyAsnProHisLeuLeuGluGlySerLeuSerAlaPheLeuProSerLeuAsnLeuAlaProArgLeuSerValProAsnProTrpIleArgSerTyrThrLeuAlaGlyLysGluGluThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547646"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 477,
          "referenceAllele": "C",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XM_017024781.2:c.406C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880270.1:p.Arg136Ter",
        "hgvsWellDefined": "XP_016880270.1:p.Arg136_Thr389delinsHisLysMetTyrArgGluGlnMetAsnLeuThrSerLeuAspProProLeuGlnLeuArgLeuGluAlaSerTrpValGlnPheHisLeuGlyIleAsnArgHisGlyLeuTyrSerArgSerSerProValValSerLysLeuLeuGlnAspMetArgHisPheProThrIleSerAlaAspTyrSerGlnAspGluLysAlaLeuLeuGlyAlaCysAspCysThrGlnIleValLysProSerGlyValHisLeuLysLeuValLeuArgPheSerAspPheGlyLysAlaMetPheLysProMetArgGlnGlnArgAspGluGluThrProValAspPhePheTyrPheIleAspPheGlnArgHisAsnAlaGluIleAlaAlaPheHisLeuAspArgIleLeuAspPheArgArgValProProThrValGlyArgIleValAsnValThrLysGluIleLeuGluValThrLysAsnGluIleLeuGlnSerValPhePheValSerProAlaSerAsnValCysPhePheAlaLysCysProTyrMetCysLysThrGluTyrAlaValCysGlyAsnProHisLeuLeuGluGlySerLeuSerAlaPheLeuProSerLeuAsnLeuAlaProArgLeuSerValProAsnProTrpIleArgSerTyrThrLeuAlaGlyLysGluAspGlnAlaValMetIleIleValGlyLysGluValThrArgGlnAsnPheTrpArgThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 477,
          "referenceAllele": "C",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XR_001752543.2:n.477C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599229"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 477,
          "referenceAllele": "C",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XR_001752544.2:n.477C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599230"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 477,
          "referenceAllele": "C",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XR_002958041.1:n.477C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 477,
          "referenceAllele": "C",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XR_429905.2:n.477C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 477,
          "referenceAllele": "C",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XR_934487.3:n.477C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610707"
    },
    {
      "@id": "http://reg.genome.network/allele/PA129515",
      "coordinates": [
        {
          "allele": "T",
          "end": 1107,
          "referenceAllele": "C",
          "start": 1106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "NM_017565.4:c.406C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060035.2:p.Arg136Ter",
        "hgvsWellDefined": "NP_060035.2:p.Arg136_Ser541delinsHisLysMetTyrArgGluGlnMetAsnLeuThrSerLeuAspProProLeuGlnLeuArgLeuGluAlaSerTrpValGlnPheHisLeuGlyIleAsnArgHisGlyLeuTyrSerArgSerSerProValValSerLysLeuLeuGlnAspMetArgHisPheProThrIleSerAlaAspTyrSerGlnAspGluLysAlaLeuLeuGlyAlaCysAspCysThrGlnIleValLysProSerGlyValHisLeuLysLeuValLeuArgPheSerAspPheGlyLysAlaMetPheLysProMetArgGlnGlnArgAspGluGluThrProValAspPhePheTyrPheIleAspPheGlnArgHisAsnAlaGluIleAlaAlaPheHisLeuAspArgIleLeuAspPheArgArgValProProThrValGlyArgIleValAsnValThrLysGluIleLeuGluValThrLysAsnGluIleLeuGlnSerValPhePheValSerProAlaSerAsnValCysPhePheAlaLysCysProTyrMetCysLysThrGluTyrAlaValCysGlyAsnProHisLeuLeuGluGlySerLeuSerAlaPheLeuProSerLeuAsnLeuAlaProArgLeuSerValProAsnProTrpIleArgSerTyrThrLeuAlaGlyLysGluGluTrpGluValAsnProLeuTyrCysAspThrValLysGlnIleTyrProTyrAsnAsnSerGlnArgLeuLeuAsnValIleAspMetAlaIlePheAspPheLeuIleGlyAsnMetAspArgHisHisTyrGluMetPheThrLysPheGlyAspAspGlyPheLeuIleHisLeuAspAsnAlaArgGlyPheGlyArgHisSerHisAspGluIleSerIleLeuSerProLeuSerGlnCysCysMetIleLysLysLysThrLeuLeuHisLeuGlnLeuLeuAlaGlnAlaAspTyrArgLeuSerAspValMetArgGluSerLeuLeuGluAspGlnLeuSerProValLeuThrGluProHisLeuLeuAlaLeuAspArgArgLeuGlnThrIleLeuArgThrValGluGlyCysIleValAlaHisGlyGlnGlnSerValIleValAspGlyProValGluGlnLeuAlaProAspSerGlyGlnAlaAsnLeuThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669276",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000592554.2:c.406C>T"
          },
          "RefSeq": {
            "hgvs": "NM_017565.4:c.406C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000468308.1:p.Arg136Ter"
          },
          "RefSeq": {
            "hgvs": "NP_060035.2:p.Arg136Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1333,
          "referenceAllele": "C",
          "start": 1332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "NM_001243746.2:c.-9C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230675.1:n.-9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680256"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 100,
          "referenceAllele": "C",
          "start": 99
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "NR_027751.2:n.100C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730243"
    }
  ],
  "type": "nucleotide"
}