{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA358963604",
  "communityStandardTitle": [
    "NM_005245.4(FAT1):c.13138+1G>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3536710[alleleid]",
        "alleleId": 3536710,
        "preferredName": "NM_005245.4(FAT1):c.13138+1G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3377529",
        "RCV": [
          "RCV004790120"
        ],
        "variationId": 3377529
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.187516842C>A?assembly=hg19",
        "id": "chr4:g.187516842C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.186595688C>A?assembly=hg38",
        "id": "chr4:g.186595688C>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 186595688,
          "referenceAllele": "C",
          "start": 186595687
        }
      ],
      "hgvs": [
        "NC_000004.12:g.186595688C>A",
        "CM000666.2:g.186595688C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 187516842,
          "referenceAllele": "C",
          "start": 187516841
        }
      ],
      "hgvs": [
        "NC_000004.11:g.187516842C>A",
        "CM000666.1:g.187516842C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 187753836,
          "referenceAllele": "C",
          "start": 187753835
        }
      ],
      "hgvs": [
        "NC_000004.10:g.187753836C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 136228,
          "referenceAllele": "G",
          "start": 136227
        }
      ],
      "hgvs": [
        "NG_046994.1:g.136228G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616529"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13349,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 13349,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "ENST00000441802.7:c.13138+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406229.2:n.13138+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755870",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000441802.7:c.13138+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005245.4:c.13138+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000406229.2:n.13138+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_005236.2:n.13138+1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13348,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 13348,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "ENST00000441802.6:c.13138+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406229.2:n.13138+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296574"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 830,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 830,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "ENST00000500085.2:n.830+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334798"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 440,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 440,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "ENST00000507105.1:c.440+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338481"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 57,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 57,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "ENST00000509537.1:c.9+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421003.1:n.9+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340276"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 112,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 112,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "ENST00000509927.1:c.112+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420869.1:n.112+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340577"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 440,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 440,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "ENST00000512772.5:c.440+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS342686"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13332,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 13332,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "ENST00000614102.4:c.13144+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479573.1:n.13144+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13326,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 13326,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "NM_005245.3:c.13138+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005236.2:n.13138+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13718,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 13718,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "XM_005262834.2:c.13138+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262891.1:n.13138+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063587"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13348,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 13348,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "XM_005262835.1:c.13138+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262892.1:n.13138+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063588"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13718,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 13718,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "XM_006714139.2:c.13138+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714202.1:n.13138+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070516"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13499,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 13499,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "XM_005262834.3:c.13138+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262891.1:n.13138+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535557"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13343,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 13343,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "XM_005262835.2:c.13138+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262892.1:n.13138+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535558"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13499,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 13499,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "XM_006714139.3:c.13138+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714202.1:n.13138+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538667"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13349,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 13349,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "NM_005245.4:c.13138+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005236.2:n.13138+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666882",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000441802.7:c.13138+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005245.4:c.13138+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000406229.2:n.13138+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_005236.2:n.13138+1G>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}