{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA384551862",
  "communityStandardTitle": [
    "NM_000289.6(PFKM):c.1459A>T (p.Lys487Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1781859[alleleid]",
        "alleleId": 1781859,
        "preferredName": "NM_000289.6(PFKM):c.1459A>T (p.Lys487Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1724332",
        "RCV": [
          "RCV002309600"
        ],
        "variationId": 1724332
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.48535569A>T?assembly=hg19",
        "id": "chr12:g.48535569A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.48141786A>T?assembly=hg38",
        "id": "chr12:g.48141786A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2498573323",
        "rs": 2498573323
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 48141786,
          "referenceAllele": "A",
          "start": 48141785
        }
      ],
      "hgvs": [
        "NC_000012.12:g.48141786A>T",
        "CM000674.2:g.48141786A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 48535569,
          "referenceAllele": "A",
          "start": 48535568
        }
      ],
      "hgvs": [
        "NC_000012.11:g.48535569A>T",
        "CM000674.1:g.48535569A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 46821836,
          "referenceAllele": "A",
          "start": 46821835
        }
      ],
      "hgvs": [
        "NC_000012.10:g.46821836A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 40914,
          "referenceAllele": "A",
          "start": 40913
        }
      ],
      "hgvs": [
        "NG_016199.1:g.40914A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 41534,
          "referenceAllele": "A",
          "start": 41533
        }
      ],
      "hgvs": [
        "NG_016199.2:g.41534A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616216"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1805,
          "referenceAllele": "A",
          "start": 1804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000550257.7:c.1681A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447997.3:p.Lys561Ter",
        "hgvsWellDefined": "ENSP00000447997.3:p.Lys561_Val854delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914258"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1896,
          "referenceAllele": "A",
          "start": 1895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000340802.12:c.1672A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345771.6:p.Lys558Ter",
        "hgvsWellDefined": "ENSP00000345771.6:p.Lys558_Val851delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747931"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1510,
          "referenceAllele": "A",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000359794.11:c.1459A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352842.5:p.Lys487Ter",
        "hgvsWellDefined": "ENSP00000352842.5:p.Lys487_Val780delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749241",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359794.11:c.1459A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000289.6:c.1459A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352842.5:p.Lys487Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000280.1:p.Lys487Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1601,
          "referenceAllele": "A",
          "start": 1600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000549941.7:c.1366A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446829.3:p.Lys456Ter",
        "hgvsWellDefined": "ENSP00000446829.3:p.Lys456_Val694delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1748,
          "referenceAllele": "A",
          "start": 1747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000550345.6:c.1459A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450369.2:p.Lys487Ter",
        "hgvsWellDefined": "ENSP00000450369.2:p.Lys487_Val780delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759957"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1657,
          "referenceAllele": "A",
          "start": 1656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000550924.6:c.1459A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446945.2:p.Lys487Ter",
        "hgvsWellDefined": "ENSP00000446945.2:p.Lys487_Val780delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1603,
          "referenceAllele": "A",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000551339.6:c.1459A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448253.2:p.Lys487Ter",
        "hgvsWellDefined": "ENSP00000448253.2:p.Lys487_Val780delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759999"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1912,
          "referenceAllele": "A",
          "start": 1911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000642730.1:c.1768A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496597.1:p.Lys590Ter",
        "hgvsWellDefined": "ENSP00000496597.1:p.Lys590_Val883delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766899"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1498,
          "referenceAllele": "A",
          "start": 1497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000312352.11:c.1459A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309438.7:p.Lys487Ter",
        "hgvsWellDefined": "ENSP00000309438.7:p.Lys487_Val780delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256670"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1896,
          "referenceAllele": "A",
          "start": 1895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000340802.10:c.1672A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345771.6:p.Lys558Ter",
        "hgvsWellDefined": "ENSP00000345771.6:p.Lys558_Val851delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261174"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1648,
          "referenceAllele": "A",
          "start": 1647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000359794.9:c.1459A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352842.5:p.Lys487Ter",
        "hgvsWellDefined": "ENSP00000352842.5:p.Lys487_Val780delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264911"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 359,
          "referenceAllele": "A",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000546465.1:c.304A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446519.1:p.Lys102Ter",
        "hgvsWellDefined": "ENSP00000446519.1:p.Lys102_Gly177del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365658"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1783,
          "referenceAllele": "A",
          "start": 1782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000546964.5:n.1783A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365992"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2299,
          "referenceAllele": "A",
          "start": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000547581.5:c.*1727A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447992.1:n.*1727A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366367"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1587,
          "referenceAllele": "A",
          "start": 1586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000547587.5:c.1459A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449426.1:p.Lys487Ter",
        "hgvsWellDefined": "ENSP00000449426.1:p.Lys487_Val780delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366371"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 91,
          "referenceAllele": "A",
          "start": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000550802.1:n.91A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368279"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1517,
          "referenceAllele": "A",
          "start": 1516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000551804.5:c.1366A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448177.1:p.Lys456Ter",
        "hgvsWellDefined": "ENSP00000448177.1:p.Lys456_Val749delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368883"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 115,
          "referenceAllele": "A",
          "start": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000552214.1:n.115A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369117"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 608,
          "referenceAllele": "A",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000552752.5:c.608A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 82,
          "referenceAllele": "A",
          "start": 81
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "ENST00000552818.1:n.82A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369463"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825141848",
      "coordinates": [
        {
          "allele": "T",
          "end": 1644,
          "referenceAllele": "A",
          "start": 1643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_000289.5:c.1459A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000280.1:p.Lys487Ter",
        "hgvsWellDefined": "NP_000280.1:p.Lys487_Val780delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826034260",
      "coordinates": [
        {
          "allele": "T",
          "end": 1946,
          "referenceAllele": "A",
          "start": 1945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001166686.1:c.1672A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001160158.1:p.Lys558Ter",
        "hgvsWellDefined": "NP_001160158.1:p.Lys558_Val851delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014933"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826034713",
      "coordinates": [
        {
          "allele": "T",
          "end": 1498,
          "referenceAllele": "A",
          "start": 1497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001166687.1:c.1459A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001160159.1:p.Lys487Ter",
        "hgvsWellDefined": "NP_001160159.1:p.Lys487_Val780delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014934"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826035170",
      "coordinates": [
        {
          "allele": "T",
          "end": 1587,
          "referenceAllele": "A",
          "start": 1586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001166688.1:c.1459A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001160160.1:p.Lys487Ter",
        "hgvsWellDefined": "NP_001160160.1:p.Lys487_Val780delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014935"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1843,
          "referenceAllele": "A",
          "start": 1842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_005268974.1:c.1768A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269031.1:p.Lys590Ter",
        "hgvsWellDefined": "XP_005269031.1:p.Lys590_Val883delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065947"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1982,
          "referenceAllele": "A",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_005268975.1:c.1768A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269032.1:p.Lys590Ter",
        "hgvsWellDefined": "XP_005269032.1:p.Lys590_Val883delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065948"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1887,
          "referenceAllele": "A",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_005268976.2:c.1768A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269033.1:p.Lys590Ter",
        "hgvsWellDefined": "XP_005269033.1:p.Lys590_Val883delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065949"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1829,
          "referenceAllele": "A",
          "start": 1828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_005268977.1:c.1672A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269034.1:p.Lys558Ter",
        "hgvsWellDefined": "XP_005269034.1:p.Lys558_Val851delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065950"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1742,
          "referenceAllele": "A",
          "start": 1741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_005268978.2:c.1672A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269035.1:p.Lys558Ter",
        "hgvsWellDefined": "XP_005269035.1:p.Lys558_Val851delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065951"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1829,
          "referenceAllele": "A",
          "start": 1828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_005268979.1:c.1672A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269036.1:p.Lys558Ter",
        "hgvsWellDefined": "XP_005269036.1:p.Lys558_Val851delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065952"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1684,
          "referenceAllele": "A",
          "start": 1683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_011538487.1:c.1675A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536789.1:p.Lys559Ter",
        "hgvsWellDefined": "XP_011536789.1:p.Lys559_Val852delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105443"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1485,
          "referenceAllele": "A",
          "start": 1484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_011538488.1:c.1459A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536790.1:p.Lys487Ter",
        "hgvsWellDefined": "XP_011536790.1:p.Lys487_Val780delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105444"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825141848",
      "coordinates": [
        {
          "allele": "T",
          "end": 1510,
          "referenceAllele": "A",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_000289.6:c.1459A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000280.1:p.Lys487Ter",
        "hgvsWellDefined": "NP_000280.1:p.Lys487_Val780delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510776",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359794.11:c.1459A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000289.6:c.1459A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352842.5:p.Lys487Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000280.1:p.Lys487Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826034260",
      "coordinates": [
        {
          "allele": "T",
          "end": 1896,
          "referenceAllele": "A",
          "start": 1895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001166686.2:c.1672A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001160158.1:p.Lys558Ter",
        "hgvsWellDefined": "NP_001160158.1:p.Lys558_Val851delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511680"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827929373",
      "coordinates": [
        {
          "allele": "T",
          "end": 1914,
          "referenceAllele": "A",
          "start": 1913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354735.1:c.1768A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341664.1:p.Lys590Ter",
        "hgvsWellDefined": "NP_001341664.1:p.Lys590_Val883delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522648"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580229033",
      "coordinates": [
        {
          "allele": "T",
          "end": 1973,
          "referenceAllele": "A",
          "start": 1972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354736.1:c.1768A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341665.1:p.Lys590Ter",
        "hgvsWellDefined": "NP_001341665.1:p.Lys590_Val883delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522649"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827930162",
      "coordinates": [
        {
          "allele": "T",
          "end": 1877,
          "referenceAllele": "A",
          "start": 1876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354737.1:c.1672A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341666.1:p.Lys558Ter",
        "hgvsWellDefined": "NP_001341666.1:p.Lys558_Val851delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522650"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827930625",
      "coordinates": [
        {
          "allele": "T",
          "end": 1747,
          "referenceAllele": "A",
          "start": 1746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354738.1:c.1672A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341667.1:p.Lys558Ter",
        "hgvsWellDefined": "NP_001341667.1:p.Lys558_Val851delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522651"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827931077",
      "coordinates": [
        {
          "allele": "T",
          "end": 1818,
          "referenceAllele": "A",
          "start": 1817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354739.1:c.1672A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341668.1:p.Lys558Ter",
        "hgvsWellDefined": "NP_001341668.1:p.Lys558_Val851delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522652"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827931527",
      "coordinates": [
        {
          "allele": "T",
          "end": 1700,
          "referenceAllele": "A",
          "start": 1699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354740.1:c.1603A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341669.1:p.Lys535Ter",
        "hgvsWellDefined": "NP_001341669.1:p.Lys535_Val828delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522653"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827931977",
      "coordinates": [
        {
          "allele": "T",
          "end": 1730,
          "referenceAllele": "A",
          "start": 1729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354741.1:c.1483A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341670.1:p.Lys495Ter",
        "hgvsWellDefined": "NP_001341670.1:p.Lys495_Val788delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522654"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827932434",
      "coordinates": [
        {
          "allele": "T",
          "end": 1634,
          "referenceAllele": "A",
          "start": 1633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354742.1:c.1459A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341671.1:p.Lys487Ter",
        "hgvsWellDefined": "NP_001341671.1:p.Lys487_Val780delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827932891",
      "coordinates": [
        {
          "allele": "T",
          "end": 1657,
          "referenceAllele": "A",
          "start": 1656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354743.1:c.1459A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341672.1:p.Lys487Ter",
        "hgvsWellDefined": "NP_001341672.1:p.Lys487_Val780delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522656"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827933348",
      "coordinates": [
        {
          "allele": "T",
          "end": 1692,
          "referenceAllele": "A",
          "start": 1691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354744.1:c.1459A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341673.1:p.Lys487Ter",
        "hgvsWellDefined": "NP_001341673.1:p.Lys487_Val780delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522657"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827933783",
      "coordinates": [
        {
          "allele": "T",
          "end": 1882,
          "referenceAllele": "A",
          "start": 1881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354745.1:c.1372A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341674.1:p.Lys458Ter",
        "hgvsWellDefined": "NP_001341674.1:p.Lys458_Val751delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522658"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827934207",
      "coordinates": [
        {
          "allele": "T",
          "end": 1518,
          "referenceAllele": "A",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354746.1:c.1333A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341675.1:p.Lys445Ter",
        "hgvsWellDefined": "NP_001341675.1:p.Lys445_Val738delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827934630",
      "coordinates": [
        {
          "allele": "T",
          "end": 1560,
          "referenceAllele": "A",
          "start": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354747.1:c.1309A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341676.1:p.Lys437Ter",
        "hgvsWellDefined": "NP_001341676.1:p.Lys437_Val730delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522660"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827935048",
      "coordinates": [
        {
          "allele": "T",
          "end": 1570,
          "referenceAllele": "A",
          "start": 1569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354748.1:c.1309A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341677.1:p.Lys437Ter",
        "hgvsWellDefined": "NP_001341677.1:p.Lys437_Val730delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522661"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828100648",
      "coordinates": [
        {
          "allele": "T",
          "end": 1551,
          "referenceAllele": "A",
          "start": 1550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001363619.1:c.1366A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350548.1:p.Lys456Ter",
        "hgvsWellDefined": "NP_001350548.1:p.Lys456_Val749delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523434"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1896,
          "referenceAllele": "A",
          "start": 1895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148954.1:n.1896A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2532,
          "referenceAllele": "A",
          "start": 2531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148955.1:n.2532A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1822,
          "referenceAllele": "A",
          "start": 1821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148956.1:n.1822A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2051,
          "referenceAllele": "A",
          "start": 2050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148957.1:n.2051A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531403"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1799,
          "referenceAllele": "A",
          "start": 1798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148958.1:n.1799A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531404"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1725,
          "referenceAllele": "A",
          "start": 1724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148959.1:n.1725A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531405"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2025,
          "referenceAllele": "A",
          "start": 2024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_005268976.3:c.1768A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269033.1:p.Lys590Ter",
        "hgvsWellDefined": "XP_005269033.1:p.Lys590_Val883delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1736,
          "referenceAllele": "A",
          "start": 1735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_017019469.1:c.1579A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874958.1:p.Lys527Ter",
        "hgvsWellDefined": "XP_016874958.1:p.Lys527_Val820delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571173"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1805,
          "referenceAllele": "A",
          "start": 1804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_024449020.1:c.1681A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304788.1:p.Lys561Ter",
        "hgvsWellDefined": "XP_024304788.1:p.Lys561_Val854delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1694,
          "referenceAllele": "A",
          "start": 1693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_024449021.1:c.1558A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304789.1:p.Lys520Ter",
        "hgvsWellDefined": "XP_024304789.1:p.Lys520_Val813delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582582"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1610,
          "referenceAllele": "A",
          "start": 1609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "XM_024449022.1:c.1459A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304790.1:p.Lys487Ter",
        "hgvsWellDefined": "XP_024304790.1:p.Lys487_Val780delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582583"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826034713",
      "coordinates": [
        {
          "allele": "T",
          "end": 1498,
          "referenceAllele": "A",
          "start": 1497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001166687.2:c.1459A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001160159.1:p.Lys487Ter",
        "hgvsWellDefined": "NP_001160159.1:p.Lys487_Val780delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826035170",
      "coordinates": [
        {
          "allele": "T",
          "end": 1587,
          "referenceAllele": "A",
          "start": 1586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001166688.2:c.1459A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001160160.1:p.Lys487Ter",
        "hgvsWellDefined": "NP_001160160.1:p.Lys487_Val780delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713225"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827931977",
      "coordinates": [
        {
          "allele": "T",
          "end": 1630,
          "referenceAllele": "A",
          "start": 1629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354741.2:c.1483A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341670.1:p.Lys495Ter",
        "hgvsWellDefined": "NP_001341670.1:p.Lys495_Val788delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720559"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827932434",
      "coordinates": [
        {
          "allele": "T",
          "end": 1534,
          "referenceAllele": "A",
          "start": 1533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354742.2:c.1459A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341671.1:p.Lys487Ter",
        "hgvsWellDefined": "NP_001341671.1:p.Lys487_Val780delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720560"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827932891",
      "coordinates": [
        {
          "allele": "T",
          "end": 1797,
          "referenceAllele": "A",
          "start": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354743.2:c.1459A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341672.1:p.Lys487Ter",
        "hgvsWellDefined": "NP_001341672.1:p.Lys487_Val780delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720561"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827933348",
      "coordinates": [
        {
          "allele": "T",
          "end": 1558,
          "referenceAllele": "A",
          "start": 1557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354744.2:c.1459A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341673.1:p.Lys487Ter",
        "hgvsWellDefined": "NP_001341673.1:p.Lys487_Val780delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720562"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827933783",
      "coordinates": [
        {
          "allele": "T",
          "end": 1748,
          "referenceAllele": "A",
          "start": 1747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354745.2:c.1372A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341674.1:p.Lys458Ter",
        "hgvsWellDefined": "NP_001341674.1:p.Lys458_Val751delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720563"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827934207",
      "coordinates": [
        {
          "allele": "T",
          "end": 1384,
          "referenceAllele": "A",
          "start": 1383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354746.2:c.1333A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341675.1:p.Lys445Ter",
        "hgvsWellDefined": "NP_001341675.1:p.Lys445_Val738delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720564"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827934630",
      "coordinates": [
        {
          "allele": "T",
          "end": 1460,
          "referenceAllele": "A",
          "start": 1459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354747.2:c.1309A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341676.1:p.Lys437Ter",
        "hgvsWellDefined": "NP_001341676.1:p.Lys437_Val730delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720565"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827935048",
      "coordinates": [
        {
          "allele": "T",
          "end": 1436,
          "referenceAllele": "A",
          "start": 1435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001354748.2:c.1309A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341677.1:p.Lys437Ter",
        "hgvsWellDefined": "NP_001341677.1:p.Lys437_Val730delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828100648",
      "coordinates": [
        {
          "allele": "T",
          "end": 1417,
          "referenceAllele": "A",
          "start": 1416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NM_001363619.2:c.1366A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350548.1:p.Lys456Ter",
        "hgvsWellDefined": "NP_001350548.1:p.Lys456_Val749delinsPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1762,
          "referenceAllele": "A",
          "start": 1761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148954.2:n.1762A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731501"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1688,
          "referenceAllele": "A",
          "start": 1687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148956.2:n.1688A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731502"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1917,
          "referenceAllele": "A",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148957.2:n.1917A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731503"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1665,
          "referenceAllele": "A",
          "start": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148958.2:n.1665A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731504"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1591,
          "referenceAllele": "A",
          "start": 1590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008877",
      "geneNCBI_id": 5213,
      "geneSymbol": "PFKM",
      "hgvs": [
        "NR_148959.2:n.1591A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731505"
    }
  ],
  "type": "nucleotide"
}