{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2262102718",
  "communityStandardTitle": [
    "NM_001377265.1(MAPT):c.2126A= (p.Lys709=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/63750092",
        "rs": 63750092
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 46014277,
          "referenceAllele": "A",
          "start": 46014276
        }
      ],
      "hgvs": [
        "NC_000017.11:g.46014277A=",
        "CM000679.2:g.46014277A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 44091643,
          "referenceAllele": "A",
          "start": 44091642
        }
      ],
      "hgvs": [
        "NC_000017.10:g.44091643A=",
        "CM000679.1:g.44091643A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 41447480,
          "referenceAllele": "A",
          "start": 41447479
        }
      ],
      "hgvs": [
        "NC_000017.9:g.41447480A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 124857,
          "referenceAllele": "A",
          "start": 124856
        }
      ],
      "hgvs": [
        "NG_007398.1:g.124857A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000566"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 124815,
          "referenceAllele": "A",
          "start": 124814
        }
      ],
      "hgvs": [
        "NG_007398.2:g.124815A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706072"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1007,
          "referenceAllele": "A",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000420682.7:c.863A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413056.2:p.Lys288="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904760"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1040,
          "referenceAllele": "A",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000703922.1:c.863A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515557.1:p.Lys288="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 953,
          "referenceAllele": "A",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000703923.1:c.776A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515558.1:p.Lys259="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912036"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1040,
          "referenceAllele": "A",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000703924.1:c.863A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515559.1:p.Lys288="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 988,
          "referenceAllele": "A",
          "start": 987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000703978.1:c.950A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515600.1:p.Lys317="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912091"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 721,
          "referenceAllele": "A",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000703979.1:n.721A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS912092"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 176,
          "referenceAllele": "A",
          "start": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000703980.1:n.176A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS912093"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 119,
          "referenceAllele": "A",
          "start": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000703981.1:n.119A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS912094"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2276,
          "referenceAllele": "A",
          "start": 2275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000262410.10:c.2126A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262410.6:p.Lys709="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742336",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262410.10:c.2126A="
          },
          "RefSeq": {
            "hgvs": "NM_001377265.1:c.2126A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262410.6:p.Lys709="
          },
          "RefSeq": {
            "hgvs": "NP_001364194.1:p.Lys709="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1979,
          "referenceAllele": "A",
          "start": 1978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000344290.10:c.1835A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340820.6:p.Lys612="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748202"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1100,
          "referenceAllele": "A",
          "start": 1099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000351559.10:c.950A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303214.7:p.Lys317="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748467"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 923,
          "referenceAllele": "A",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000535772.6:c.770A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443028.2:p.Lys257="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759458"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1057,
          "referenceAllele": "A",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000680542.1:c.863A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505258.1:p.Lys288="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 953,
          "referenceAllele": "A",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000680674.1:c.776A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505478.1:p.Lys259="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780289"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2223,
          "referenceAllele": "A",
          "start": 2222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000262410.9:c.1901A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262410.5:p.Lys634="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 719,
          "referenceAllele": "A",
          "start": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000334239.12:c.683A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334886.8:p.Lys228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259866"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1185,
          "referenceAllele": "A",
          "start": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000340799.9:c.863A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340438.5:p.Lys288="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261172"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2277,
          "referenceAllele": "A",
          "start": 2276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000344290.9:c.1955A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340820.5:p.Lys652="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261938"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1272,
          "referenceAllele": "A",
          "start": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000351559.9:c.950A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303214.7:p.Lys317="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262786"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1955,
          "referenceAllele": "A",
          "start": 1954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000415613.6:c.1955A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410838.2:p.Lys652="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284070"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 863,
          "referenceAllele": "A",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000420682.6:c.863A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413056.2:p.Lys288="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286430"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 857,
          "referenceAllele": "A",
          "start": 856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000431008.7:c.857A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389250.3:p.Lys286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 806,
          "referenceAllele": "A",
          "start": 805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000446361.7:c.776A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408975.3:p.Lys259="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298698"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1179,
          "referenceAllele": "A",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000535772.5:c.857A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443028.1:p.Lys286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359918"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 776,
          "endIntronDirection": "-",
          "endIntronOffset": 4340,
          "referenceAllele": "A",
          "start": 776,
          "startIntronDirection": "-",
          "startIntronOffset": 4341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000570299.5:n.777-4341A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1901,
          "referenceAllele": "A",
          "start": 1900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000571987.5:c.1901A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458742.1:p.Lys634="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382735"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 950,
          "referenceAllele": "A",
          "start": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000574436.5:c.950A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460965.1:p.Lys317="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6142,
          "referenceAllele": "A",
          "start": 6141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "ENST00000576518.1:n.6142A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384509"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2277,
          "referenceAllele": "A",
          "start": 2276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_001123066.3:c.1955A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001116538.2:p.Lys652="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011439"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1185,
          "referenceAllele": "A",
          "start": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_001123067.3:c.863A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001116539.1:p.Lys288="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011440"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1092,
          "referenceAllele": "A",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_001203251.1:c.770A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001190180.1:p.Lys257="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017467"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1179,
          "referenceAllele": "A",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_001203252.1:c.857A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001190181.1:p.Lys286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017468"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083962984",
      "coordinates": [
        {
          "allele": "A",
          "end": 1272,
          "referenceAllele": "A",
          "start": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_005910.5:c.950A="
      ],
      "proteinEffect": {
        "hgvs": "NP_005901.2:p.Lys317="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030966"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1098,
          "referenceAllele": "A",
          "start": 1097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_016834.4:c.776A="
      ],
      "proteinEffect": {
        "hgvs": "NP_058518.1:p.Lys259="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034886"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2223,
          "referenceAllele": "A",
          "start": 2222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_016835.4:c.1901A="
      ],
      "proteinEffect": {
        "hgvs": "NP_058519.3:p.Lys634="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034887"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1005,
          "referenceAllele": "A",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_016841.4:c.683A="
      ],
      "proteinEffect": {
        "hgvs": "NP_058525.1:p.Lys228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034889"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2315,
          "referenceAllele": "A",
          "start": 2314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "XM_005257362.3:c.2213A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257419.1:p.Lys738="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061663"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2228,
          "referenceAllele": "A",
          "start": 2227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "XM_005257364.3:c.2126A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257421.1:p.Lys709="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061664"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2222,
          "referenceAllele": "A",
          "start": 2221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "XM_005257365.3:c.2120A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257422.1:p.Lys707="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061665"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2183,
          "referenceAllele": "A",
          "start": 2182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "XM_005257366.2:c.2039A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257423.1:p.Lys680="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061666"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2117,
          "referenceAllele": "A",
          "start": 2116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "XM_005257367.3:c.2015A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257424.1:p.Lys672="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061667"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2024,
          "referenceAllele": "A",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "XM_005257368.3:c.1922A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257425.1:p.Lys641="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061668"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1250,
          "referenceAllele": "A",
          "start": 1249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "XM_005257369.3:c.1148A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257426.1:p.Lys383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061669"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1163,
          "referenceAllele": "A",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "XM_005257370.3:c.1061A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257427.1:p.Lys354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061670"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1076,
          "referenceAllele": "A",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "XM_005257371.3:c.974A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257428.1:p.Lys325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061671"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2315,
          "referenceAllele": "A",
          "start": 2314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "XM_005257362.4:c.2213A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257419.1:p.Lys738="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534641"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2228,
          "referenceAllele": "A",
          "start": 2227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "XM_005257364.4:c.2126A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257421.1:p.Lys709="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534642"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2222,
          "referenceAllele": "A",
          "start": 2221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "XM_005257365.4:c.2120A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257422.1:p.Lys707="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534643"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2183,
          "referenceAllele": "A",
          "start": 2182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "XM_005257366.3:c.2039A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257423.1:p.Lys680="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534644"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2117,
          "referenceAllele": "A",
          "start": 2116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "XM_005257367.4:c.2015A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257424.1:p.Lys672="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534645"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2024,
          "referenceAllele": "A",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "XM_005257368.4:c.1922A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257425.1:p.Lys641="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534646"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1250,
          "referenceAllele": "A",
          "start": 1249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "XM_005257369.4:c.1148A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257426.1:p.Lys383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534647"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1227,
          "referenceAllele": "A",
          "start": 1226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "XM_005257370.4:c.1061A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257427.1:p.Lys354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534648"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1076,
          "referenceAllele": "A",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "XM_005257371.4:c.974A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257428.1:p.Lys325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534649"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 920,
          "referenceAllele": "A",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_001203251.2:c.770A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001190180.1:p.Lys257="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679738"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2276,
          "referenceAllele": "A",
          "start": 2275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_001377265.1:c.2126A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364194.1:p.Lys709="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695051",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262410.10:c.2126A="
          },
          "RefSeq": {
            "hgvs": "NM_001377265.1:c.2126A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262410.6:p.Lys709="
          },
          "RefSeq": {
            "hgvs": "NP_001364194.1:p.Lys709="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1985,
          "referenceAllele": "A",
          "start": 1984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_001377266.1:c.1835A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364195.1:p.Lys612="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695052"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 920,
          "referenceAllele": "A",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_001377267.1:c.770A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364196.1:p.Lys257="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695053"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 986,
          "referenceAllele": "A",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_001377268.1:c.683A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364197.1:p.Lys228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695054"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 926,
          "referenceAllele": "A",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_016834.5:c.776A="
      ],
      "proteinEffect": {
        "hgvs": "NP_058518.1:p.Lys259="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697780"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 833,
          "referenceAllele": "A",
          "start": 832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_016841.5:c.683A="
      ],
      "proteinEffect": {
        "hgvs": "NP_058525.1:p.Lys228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697781"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 781,
          "referenceAllele": "A",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NR_165166.1:n.781A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706026"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2105,
          "referenceAllele": "A",
          "start": 2104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_001123066.4:c.1955A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001116538.2:p.Lys652="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712156"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1013,
          "referenceAllele": "A",
          "start": 1012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_001123067.4:c.863A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001116539.1:p.Lys288="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712157"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1007,
          "referenceAllele": "A",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_001203252.2:c.857A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001190181.1:p.Lys286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714102"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083962984",
      "coordinates": [
        {
          "allele": "A",
          "end": 1100,
          "referenceAllele": "A",
          "start": 1099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_005910.6:c.950A="
      ],
      "proteinEffect": {
        "hgvs": "NP_005901.2:p.Lys317="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727679"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2051,
          "referenceAllele": "A",
          "start": 2050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NM_016835.5:c.1901A="
      ],
      "proteinEffect": {
        "hgvs": "NP_058519.3:p.Lys634="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728218"
    }
  ],
  "type": "nucleotide"
}