{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1982112736",
  "communityStandardTitle": [
    "NM_001040118.3(ARAP1):c.747+209C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/74506765",
        "rs": 74506765
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 72712967,
          "referenceAllele": "G",
          "start": 72712966
        }
      ],
      "hgvs": [
        "NC_000011.10:g.72712967G=",
        "CM000673.2:g.72712967G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 72424012,
          "referenceAllele": "G",
          "start": 72424011
        }
      ],
      "hgvs": [
        "NC_000011.9:g.72424012G=",
        "CM000673.1:g.72424012G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 72101660,
          "referenceAllele": "G",
          "start": 72101659
        }
      ],
      "hgvs": [
        "NC_000011.8:g.72101660G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 955,
          "endIntronDirection": "+",
          "endIntronOffset": 209,
          "referenceAllele": "C",
          "start": 955,
          "startIntronDirection": "+",
          "startIntronOffset": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016925",
      "geneNCBI_id": 116985,
      "geneSymbol": "ARAP1",
      "hgvs": [
        "ENST00000393609.8:c.747+209C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377233.3:n.747+209C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753147",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393609.8:c.747+209C="
          },
          "RefSeq": {
            "hgvs": "NM_001040118.3:c.747+209C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377233.3:n.747+209C="
          },
          "RefSeq": {
            "hgvs": "NP_001035207.1:n.747+209C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 747,
          "endIntronDirection": "+",
          "endIntronOffset": 209,
          "referenceAllele": "C",
          "start": 747,
          "startIntronDirection": "+",
          "startIntronOffset": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016925",
      "geneNCBI_id": 116985,
      "geneSymbol": "ARAP1",
      "hgvs": [
        "ENST00000334211.12:c.12+209C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000335506.8:n.12+209C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259859"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1599,
          "endIntronDirection": "+",
          "endIntronOffset": 209,
          "referenceAllele": "C",
          "start": 1599,
          "startIntronDirection": "+",
          "startIntronOffset": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016925",
      "geneNCBI_id": 116985,
      "geneSymbol": "ARAP1",
      "hgvs": [
        "ENST00000359373.9:c.747+209C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352332.5:n.747+209C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264777"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 185,
          "referenceAllele": "C",
          "start": 184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016925",
      "geneNCBI_id": 116985,
      "geneSymbol": "ARAP1",
      "hgvs": [
        "ENST00000393605.7:c.-372C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377230.3:n.-372C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275719"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 950,
          "endIntronDirection": "+",
          "endIntronOffset": 209,
          "referenceAllele": "C",
          "start": 950,
          "startIntronDirection": "+",
          "startIntronOffset": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016925",
      "geneNCBI_id": 116985,
      "geneSymbol": "ARAP1",
      "hgvs": [
        "ENST00000393609.7:c.747+209C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377233.3:n.747+209C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275722"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 417,
          "endIntronDirection": "+",
          "endIntronOffset": 209,
          "referenceAllele": "C",
          "start": 417,
          "startIntronDirection": "+",
          "startIntronOffset": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016925",
      "geneNCBI_id": 116985,
      "geneSymbol": "ARAP1",
      "hgvs": [
        "ENST00000426523.5:c.12+209C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392264.1:n.12+209C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289252"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 417,
          "endIntronDirection": "+",
          "endIntronOffset": 209,
          "referenceAllele": "C",
          "start": 417,
          "startIntronDirection": "+",
          "startIntronOffset": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016925",
      "geneNCBI_id": 116985,
      "geneSymbol": "ARAP1",
      "hgvs": [
        "ENST00000429686.5:c.12+209C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403127.1:n.12+209C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290779"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 686,
          "referenceAllele": "C",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016925",
      "geneNCBI_id": 116985,
      "geneSymbol": "ARAP1",
      "hgvs": [
        "ENST00000465814.5:n.686C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309337"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 936,
          "endIntronDirection": "+",
          "endIntronOffset": 209,
          "referenceAllele": "C",
          "start": 936,
          "startIntronDirection": "+",
          "startIntronOffset": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016925",
      "geneNCBI_id": 116985,
      "geneSymbol": "ARAP1",
      "hgvs": [
        "NM_001040118.2:c.747+209C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035207.1:n.747+209C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009514"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 747,
          "endIntronDirection": "+",
          "endIntronOffset": 209,
          "referenceAllele": "C",
          "start": 747,
          "startIntronDirection": "+",
          "startIntronOffset": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016925",
      "geneNCBI_id": 116985,
      "geneSymbol": "ARAP1",
      "hgvs": [
        "NM_001135190.1:c.12+209C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001128662.1:n.12+209C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012387"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 747,
          "endIntronDirection": "+",
          "endIntronOffset": 209,
          "referenceAllele": "C",
          "start": 747,
          "startIntronDirection": "+",
          "startIntronOffset": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016925",
      "geneNCBI_id": 116985,
      "geneSymbol": "ARAP1",
      "hgvs": [
        "NM_015242.4:c.12+209C="
      ],
      "proteinEffect": {
        "hgvs": "NP_056057.2:n.12+209C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033858"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 729,
          "endIntronDirection": "+",
          "endIntronOffset": 209,
          "referenceAllele": "C",
          "start": 729,
          "startIntronDirection": "+",
          "startIntronOffset": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016925",
      "geneNCBI_id": 116985,
      "geneSymbol": "ARAP1",
      "hgvs": [
        "NM_001369489.1:c.12+209C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001356418.1:n.12+209C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691709"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 729,
          "endIntronDirection": "+",
          "endIntronOffset": 209,
          "referenceAllele": "C",
          "start": 729,
          "startIntronDirection": "+",
          "startIntronOffset": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016925",
      "geneNCBI_id": 116985,
      "geneSymbol": "ARAP1",
      "hgvs": [
        "NR_161388.1:n.729+209C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 955,
          "endIntronDirection": "+",
          "endIntronOffset": 209,
          "referenceAllele": "C",
          "start": 955,
          "startIntronDirection": "+",
          "startIntronOffset": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016925",
      "geneNCBI_id": 116985,
      "geneSymbol": "ARAP1",
      "hgvs": [
        "NM_001040118.3:c.747+209C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035207.1:n.747+209C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711628",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393609.8:c.747+209C="
          },
          "RefSeq": {
            "hgvs": "NM_001040118.3:c.747+209C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377233.3:n.747+209C="
          },
          "RefSeq": {
            "hgvs": "NP_001035207.1:n.747+209C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 729,
          "endIntronDirection": "+",
          "endIntronOffset": 209,
          "referenceAllele": "C",
          "start": 729,
          "startIntronDirection": "+",
          "startIntronOffset": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016925",
      "geneNCBI_id": 116985,
      "geneSymbol": "ARAP1",
      "hgvs": [
        "NM_001135190.2:c.12+209C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001128662.1:n.12+209C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712427"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 729,
          "endIntronDirection": "+",
          "endIntronOffset": 209,
          "referenceAllele": "C",
          "start": 729,
          "startIntronDirection": "+",
          "startIntronOffset": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016925",
      "geneNCBI_id": 116985,
      "geneSymbol": "ARAP1",
      "hgvs": [
        "NM_015242.5:c.12+209C="
      ],
      "proteinEffect": {
        "hgvs": "NP_056057.2:n.12+209C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728049"
    }
  ],
  "type": "nucleotide"
}