{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2146523411",
  "communityStandardTitle": [
    "NM_001005743.2(NUMB):c.1096+569A>C"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/8013402",
        "rs": 8013402
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 73281790,
          "referenceAllele": "T",
          "start": 73281789
        }
      ],
      "hgvs": [
        "NC_000014.9:g.73281790T>G",
        "CM000676.2:g.73281790T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 73748498,
          "referenceAllele": "T",
          "start": 73748497
        }
      ],
      "hgvs": [
        "NC_000014.8:g.73748498T>G",
        "CM000676.1:g.73748498T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 72818251,
          "referenceAllele": "T",
          "start": 72818250
        }
      ],
      "hgvs": [
        "NC_000014.7:g.72818251T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 181791,
          "referenceAllele": "A",
          "start": 181790
        }
      ],
      "hgvs": [
        "NG_029061.2:g.181791A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004234"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1382,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 1382,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "ENST00000555238.6:c.1096+569A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451300.1:n.1096+569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826025",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000555238.6:c.1096+569A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001005743.2:c.1096+569A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000451300.1:n.1096+569A>C"
          },
          "RefSeq": {
            "hgvs": "NP_001005743.1:n.1096+569A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1114,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 1114,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "ENST00000355058.7:c.1096+569A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347169.3:n.1096+569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263318"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1375,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 1375,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "ENST00000356296.8:c.1096+569A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348644.4:n.1096+569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263714"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1081,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 1081,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "ENST00000359560.7:c.1063+569A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352563.3:n.1063+569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264829"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1114,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 1114,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "ENST00000535282.5:c.1096+569A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441258.2:n.1096+569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359636"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 673,
          "endIntronDirection": "-",
          "endIntronOffset": 4496,
          "referenceAllele": "A",
          "start": 673,
          "startIntronDirection": "-",
          "startIntronOffset": 4497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "ENST00000544991.7:c.656-4497A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446001.3:n.656-4497A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364860"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 589,
          "endIntronDirection": "-",
          "endIntronOffset": 252,
          "referenceAllele": "A",
          "start": 589,
          "startIntronDirection": "-",
          "startIntronOffset": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "ENST00000553997.5:n.590-253A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370297"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1629,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 1629,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "ENST00000554014.6:n.1629+569A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370308"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 661,
          "endIntronDirection": "-",
          "endIntronOffset": 4496,
          "referenceAllele": "A",
          "start": 661,
          "startIntronDirection": "-",
          "startIntronOffset": 4497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "ENST00000554521.6:c.623-4497A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450817.2:n.623-4497A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370706"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1420,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 1420,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "ENST00000554546.5:c.1063+569A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452416.1:n.1063+569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370721"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1366,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 1366,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "ENST00000555238.5:c.1096+569A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451300.1:n.1096+569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371282"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1416,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 1416,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "ENST00000555394.5:c.1096+569A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451625.1:n.1096+569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371401"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 808,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 808,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "ENST00000555738.6:c.769+569A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452069.2:n.769+569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371674"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2952,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 2952,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "ENST00000556772.5:c.664+569A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451513.1:n.664+569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372479"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1325,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 1325,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "ENST00000557597.5:c.1063+569A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451117.1:n.1063+569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373163"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 694,
          "endIntronDirection": "-",
          "endIntronOffset": 4496,
          "referenceAllele": "A",
          "start": 694,
          "startIntronDirection": "-",
          "startIntronOffset": 4497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "ENST00000559312.5:c.656-4497A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452888.1:n.656-4497A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374484"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 841,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 841,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "ENST00000560335.5:c.802+569A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453209.1:n.802+569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375276"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1416,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 1416,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "NM_001005743.1:c.1096+569A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005743.1:n.1096+569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007775"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1416,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 1416,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "NM_001005744.1:c.1096+569A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005744.1:n.1096+569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007776"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1383,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 1383,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "NM_001005745.1:c.1063+569A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005745.1:n.1063+569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007777"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1383,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 1383,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "NM_003744.5:c.1063+569A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003735.3:n.1063+569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028965"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1333,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 1333,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "XM_005268142.3:c.1096+569A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268199.1:n.1096+569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065630"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1295,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 1295,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "XM_005268144.3:c.1063+569A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268201.1:n.1063+569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065631"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1286,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 1286,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "XM_005268145.3:c.1054+569A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268202.1:n.1054+569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065632"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1333,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 1333,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "XM_005268146.3:c.1096+569A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268203.1:n.1096+569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065633"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1633,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 1633,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "XM_011537253.1:c.1096+569A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535555.1:n.1096+569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104218"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1277,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 1277,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "XM_011537254.1:c.1096+569A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535556.1:n.1096+569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104219"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1192,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 1192,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "XM_011537255.1:c.1096+569A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535557.1:n.1096+569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104220"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1407,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 1407,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "XM_011537256.1:c.1087+569A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535558.1:n.1087+569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104221"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1248,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 1248,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "XM_011537257.1:c.1063+569A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535559.1:n.1063+569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104222"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1161,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 1161,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "XM_011537258.1:c.1063+569A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535560.1:n.1063+569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104223"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1374,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 1374,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "XM_011537259.1:c.1054+569A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535561.1:n.1054+569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104224"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1355,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 1355,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "XM_011537260.1:c.1096+569A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535562.1:n.1096+569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104225"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1407,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 1407,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "XM_011537261.1:c.1087+569A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535563.1:n.1087+569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104226"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1122,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 1122,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "XM_011537262.1:c.802+569A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535564.1:n.802+569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104227"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1122,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 1122,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "XM_011537263.1:c.802+569A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535565.1:n.802+569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104228"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1089,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 1089,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "XM_011537264.1:c.769+569A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535566.1:n.769+569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104229"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1436,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 1436,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "NM_001320114.1:c.1096+569A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307043.1:n.1096+569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513461"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1382,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 1382,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "NM_001005743.2:c.1096+569A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005743.1:n.1096+569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711178",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000555238.6:c.1096+569A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001005743.2:c.1096+569A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000451300.1:n.1096+569A>C"
          },
          "RefSeq": {
            "hgvs": "NP_001005743.1:n.1096+569A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1382,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 1382,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "NM_001005744.2:c.1096+569A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005744.1:n.1096+569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711179"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1349,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 1349,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "NM_001005745.2:c.1063+569A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005745.1:n.1063+569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711180"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1402,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 1402,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "NM_001320114.2:c.1096+569A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307043.1:n.1096+569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717748"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1349,
          "endIntronDirection": "+",
          "endIntronOffset": 569,
          "referenceAllele": "A",
          "start": 1349,
          "startIntronDirection": "+",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008060",
      "geneNCBI_id": 8650,
      "geneSymbol": "NUMB",
      "hgvs": [
        "NM_003744.6:c.1063+569A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003735.3:n.1063+569A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727425"
    }
  ],
  "type": "nucleotide"
}