{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1984650260",
  "communityStandardTitle": [
    "NM_080491.3(GAB2):c.76-61192T>A"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2292573",
        "rs": 2292573
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 78342093,
          "referenceAllele": "A",
          "start": 78342092
        }
      ],
      "hgvs": [
        "NC_000011.10:g.78342093A>T",
        "CM000673.2:g.78342093A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 78053139,
          "referenceAllele": "A",
          "start": 78053138
        }
      ],
      "hgvs": [
        "NC_000011.9:g.78053139A>T",
        "CM000673.1:g.78053139A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 77730787,
          "referenceAllele": "A",
          "start": 77730786
        }
      ],
      "hgvs": [
        "NC_000011.8:g.77730787A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 80730,
          "referenceAllele": "T",
          "start": 80729
        }
      ],
      "hgvs": [
        "NG_016171.1:g.80730T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002989"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 175,
          "endIntronDirection": "-",
          "endIntronOffset": 61191,
          "referenceAllele": "T",
          "start": 175,
          "startIntronDirection": "-",
          "startIntronOffset": 61192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014458",
      "geneNCBI_id": 9846,
      "geneSymbol": "GAB2",
      "hgvs": [
        "ENST00000361507.5:c.76-61192T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354952.4:n.76-61192T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749486",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361507.5:c.76-61192T>A"
          },
          "RefSeq": {
            "hgvs": "NM_080491.3:c.76-61192T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354952.4:n.76-61192T>A"
          },
          "RefSeq": {
            "hgvs": "NP_536739.1:n.76-61192T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 161,
          "endIntronDirection": "-",
          "endIntronOffset": 61191,
          "referenceAllele": "T",
          "start": 161,
          "startIntronDirection": "-",
          "startIntronOffset": 61192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014458",
      "geneNCBI_id": 9846,
      "geneSymbol": "GAB2",
      "hgvs": [
        "ENST00000361507.4:c.76-61192T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354952.4:n.76-61192T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265512"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 177,
          "endIntronDirection": "-",
          "endIntronOffset": 23873,
          "referenceAllele": "T",
          "start": 177,
          "startIntronDirection": "-",
          "startIntronOffset": 23874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014458",
      "geneNCBI_id": 9846,
      "geneSymbol": "GAB2",
      "hgvs": [
        "ENST00000526030.1:n.178-23874T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351957"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 112,
          "endIntronDirection": "-",
          "endIntronOffset": 61191,
          "referenceAllele": "T",
          "start": 112,
          "startIntronDirection": "-",
          "startIntronOffset": 61192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014458",
      "geneNCBI_id": 9846,
      "geneSymbol": "GAB2",
      "hgvs": [
        "ENST00000528886.5:c.-39-61192T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433762.1:n.-39-61192T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 222,
          "endIntronDirection": "+",
          "endIntronOffset": 21923,
          "referenceAllele": "T",
          "start": 222,
          "startIntronDirection": "+",
          "startIntronOffset": 21922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014458",
      "geneNCBI_id": 9846,
      "geneSymbol": "GAB2",
      "hgvs": [
        "ENST00000530915.1:c.-40+21923T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431868.1:n.-40+21923T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356093"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 126,
          "endIntronDirection": "-",
          "endIntronOffset": 61191,
          "referenceAllele": "T",
          "start": 126,
          "startIntronDirection": "-",
          "startIntronOffset": 61192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014458",
      "geneNCBI_id": 9846,
      "geneSymbol": "GAB2",
      "hgvs": [
        "ENST00000534823.1:n.127-61192T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359379"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 177,
          "endIntronDirection": "-",
          "endIntronOffset": 61191,
          "referenceAllele": "T",
          "start": 177,
          "startIntronDirection": "-",
          "startIntronOffset": 61192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014458",
      "geneNCBI_id": 9846,
      "geneSymbol": "GAB2",
      "hgvs": [
        "NM_080491.2:c.76-61192T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_536739.1:n.76-61192T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040164"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 222,
          "endIntronDirection": "+",
          "endIntronOffset": 21923,
          "referenceAllele": "T",
          "start": 222,
          "startIntronDirection": "+",
          "startIntronOffset": 21922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014458",
      "geneNCBI_id": 9846,
      "geneSymbol": "GAB2",
      "hgvs": [
        "XM_006718753.1:c.-40+21923T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718816.1:n.-40+21923T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072773"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 222,
          "endIntronDirection": "+",
          "endIntronOffset": 21923,
          "referenceAllele": "T",
          "start": 222,
          "startIntronDirection": "+",
          "startIntronOffset": 21922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014458",
      "geneNCBI_id": 9846,
      "geneSymbol": "GAB2",
      "hgvs": [
        "XM_006718753.2:c.-40+21923T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718816.1:n.-40+21923T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539695"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 842,
          "endIntronDirection": "+",
          "endIntronOffset": 12641,
          "referenceAllele": "T",
          "start": 842,
          "startIntronDirection": "+",
          "startIntronOffset": 12640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014458",
      "geneNCBI_id": 9846,
      "geneSymbol": "GAB2",
      "hgvs": [
        "XM_024448782.1:c.21+12641T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304550.1:n.21+12641T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582349"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 175,
          "endIntronDirection": "-",
          "endIntronOffset": 61191,
          "referenceAllele": "T",
          "start": 175,
          "startIntronDirection": "-",
          "startIntronOffset": 61192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014458",
      "geneNCBI_id": 9846,
      "geneSymbol": "GAB2",
      "hgvs": [
        "NM_080491.3:c.76-61192T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_536739.1:n.76-61192T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671728",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361507.5:c.76-61192T>A"
          },
          "RefSeq": {
            "hgvs": "NM_080491.3:c.76-61192T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354952.4:n.76-61192T>A"
          },
          "RefSeq": {
            "hgvs": "NP_536739.1:n.76-61192T>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}