{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA15592998",
  "communityStandardTitle": [
    "NM_005502.4(ABCA1):c.66+156C>T"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/ncv/overview?id=8519755",
        "active": true,
        "id": "COSN8519755"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1271462[alleleid]",
        "alleleId": 1271462,
        "preferredName": "NM_005502.4(ABCA1):c.66+156C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1282893",
        "RCV": [
          "RCV001689152"
        ],
        "variationId": 1282893
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.107665739G>A?assembly=hg19",
        "id": "chr9:g.107665739G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.104903458G>A?assembly=hg38",
        "id": "chr9:g.104903458G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2575876",
        "rs": 2575876
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-107665739-G-A?dataset=gnomad_r2_1",
        "id": "9-107665739-G-A",
        "variant": "9:107665739 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-104903458-G-A?dataset=gnomad_r3",
        "id": "9-104903458-G-A",
        "variant": "9:104903458 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-104903458-G-A?dataset=gnomad_r4",
        "id": "9-104903458-G-A",
        "variant": "9:104903458 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 104903458,
          "referenceAllele": "G",
          "start": 104903457
        }
      ],
      "hgvs": [
        "NC_000009.12:g.104903458G>A",
        "CM000671.2:g.104903458G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 107665739,
          "referenceAllele": "G",
          "start": 107665738
        }
      ],
      "hgvs": [
        "NC_000009.11:g.107665739G>A",
        "CM000671.1:g.107665739G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 106705560,
          "referenceAllele": "G",
          "start": 106705559
        }
      ],
      "hgvs": [
        "NC_000009.10:g.106705560G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 29698,
          "referenceAllele": "C",
          "start": 29697
        }
      ],
      "hgvs": [
        "NG_007981.1:g.29698C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000749"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 379,
          "endIntronDirection": "+",
          "endIntronOffset": 156,
          "referenceAllele": "C",
          "start": 379,
          "startIntronDirection": "+",
          "startIntronOffset": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "ENST00000374736.8:c.66+156C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363868.3:n.66+156C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751486",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374736.8:c.66+156C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005502.4:c.66+156C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363868.3:n.66+156C>T"
          },
          "RefSeq": {
            "hgvs": "NP_005493.2:n.66+156C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 379,
          "endIntronDirection": "+",
          "endIntronOffset": 156,
          "referenceAllele": "C",
          "start": 379,
          "startIntronDirection": "+",
          "startIntronOffset": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "ENST00000678995.1:c.66+156C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504612.1:n.66+156C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778630"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 205,
          "endIntronDirection": "-",
          "endIntronOffset": 14262,
          "referenceAllele": "C",
          "start": 205,
          "startIntronDirection": "-",
          "startIntronOffset": 14263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "ENST00000374733.1:c.-114-14263C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363865.1:n.-114-14263C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270383"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 461,
          "endIntronDirection": "+",
          "endIntronOffset": 156,
          "referenceAllele": "C",
          "start": 461,
          "startIntronDirection": "+",
          "startIntronOffset": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "ENST00000374736.7:c.66+156C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363868.3:n.66+156C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 363,
          "endIntronDirection": "+",
          "endIntronOffset": 156,
          "referenceAllele": "C",
          "start": 363,
          "startIntronDirection": "+",
          "startIntronOffset": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "ENST00000423487.6:c.66+156C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416623.2:n.66+156C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287784"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 470,
          "endIntronDirection": "+",
          "endIntronOffset": 156,
          "referenceAllele": "C",
          "start": 470,
          "startIntronDirection": "+",
          "startIntronOffset": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "NM_005502.3:c.66+156C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005493.2:n.66+156C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030593"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 379,
          "endIntronDirection": "+",
          "endIntronOffset": 156,
          "referenceAllele": "C",
          "start": 379,
          "startIntronDirection": "+",
          "startIntronOffset": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_005251773.1:c.66+156C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251830.1:n.66+156C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059669"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 219,
          "endIntronDirection": "-",
          "endIntronOffset": 14262,
          "referenceAllele": "C",
          "start": 219,
          "startIntronDirection": "-",
          "startIntronOffset": 14263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_005251776.1:c.-114-14263C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251833.1:n.-114-14263C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059670"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 379,
          "endIntronDirection": "+",
          "endIntronOffset": 156,
          "referenceAllele": "C",
          "start": 379,
          "startIntronDirection": "+",
          "startIntronOffset": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518339.1:c.66+156C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516641.1:n.66+156C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085513"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 375,
          "endIntronDirection": "+",
          "endIntronOffset": 156,
          "referenceAllele": "C",
          "start": 375,
          "startIntronDirection": "+",
          "startIntronOffset": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518340.1:c.66+156C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516642.1:n.66+156C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085514"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 379,
          "endIntronDirection": "+",
          "endIntronOffset": 156,
          "referenceAllele": "C",
          "start": 379,
          "startIntronDirection": "+",
          "startIntronOffset": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518341.1:c.66+156C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516643.1:n.66+156C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085515"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 299,
          "endIntronDirection": "-",
          "endIntronOffset": 14262,
          "referenceAllele": "C",
          "start": 299,
          "startIntronDirection": "-",
          "startIntronOffset": 14263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518342.1:c.-155-14263C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516644.1:n.-155-14263C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085516"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 379,
          "endIntronDirection": "+",
          "endIntronOffset": 156,
          "referenceAllele": "C",
          "start": 379,
          "startIntronDirection": "+",
          "startIntronOffset": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518343.1:c.66+156C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516645.1:n.66+156C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085517"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 379,
          "endIntronDirection": "+",
          "endIntronOffset": 156,
          "referenceAllele": "C",
          "start": 379,
          "startIntronDirection": "+",
          "startIntronOffset": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518344.1:c.66+156C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516646.1:n.66+156C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085518"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 379,
          "endIntronDirection": "+",
          "endIntronOffset": 156,
          "referenceAllele": "C",
          "start": 379,
          "startIntronDirection": "+",
          "startIntronOffset": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_005251773.3:c.66+156C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251830.1:n.66+156C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533666"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 219,
          "endIntronDirection": "-",
          "endIntronOffset": 14262,
          "referenceAllele": "C",
          "start": 219,
          "startIntronDirection": "-",
          "startIntronOffset": 14263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_005251776.3:c.-114-14263C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251833.1:n.-114-14263C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533667"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 379,
          "endIntronDirection": "+",
          "endIntronOffset": 156,
          "referenceAllele": "C",
          "start": 379,
          "startIntronDirection": "+",
          "startIntronOffset": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518339.3:c.66+156C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516641.1:n.66+156C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544871"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 594,
          "endIntronDirection": "+",
          "endIntronOffset": 156,
          "referenceAllele": "C",
          "start": 594,
          "startIntronDirection": "+",
          "startIntronOffset": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518340.3:c.66+156C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516642.1:n.66+156C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544872"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 379,
          "endIntronDirection": "+",
          "endIntronOffset": 156,
          "referenceAllele": "C",
          "start": 379,
          "startIntronDirection": "+",
          "startIntronOffset": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518341.3:c.66+156C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516643.1:n.66+156C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544873"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 298,
          "endIntronDirection": "-",
          "endIntronOffset": 14262,
          "referenceAllele": "C",
          "start": 298,
          "startIntronDirection": "-",
          "startIntronOffset": 14263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518342.3:c.-155-14263C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516644.1:n.-155-14263C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 379,
          "endIntronDirection": "+",
          "endIntronOffset": 156,
          "referenceAllele": "C",
          "start": 379,
          "startIntronDirection": "+",
          "startIntronOffset": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518344.2:c.66+156C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516646.1:n.66+156C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544875"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 578,
          "endIntronDirection": "+",
          "endIntronOffset": 156,
          "referenceAllele": "C",
          "start": 578,
          "startIntronDirection": "+",
          "startIntronOffset": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_017014378.2:c.66+156C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869867.1:n.66+156C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567389"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 985,
          "endIntronDirection": "+",
          "endIntronOffset": 156,
          "referenceAllele": "C",
          "start": 985,
          "startIntronDirection": "+",
          "startIntronOffset": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_017014379.2:c.66+156C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869868.1:n.66+156C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567390"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 311,
          "endIntronDirection": "+",
          "endIntronOffset": 156,
          "referenceAllele": "C",
          "start": 311,
          "startIntronDirection": "+",
          "startIntronOffset": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_017014380.2:c.66+156C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869869.1:n.66+156C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567391"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 377,
          "endIntronDirection": "+",
          "endIntronOffset": 156,
          "referenceAllele": "C",
          "start": 377,
          "startIntronDirection": "+",
          "startIntronOffset": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_017014381.2:c.66+156C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869870.1:n.66+156C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567392"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 379,
          "endIntronDirection": "+",
          "endIntronOffset": 156,
          "referenceAllele": "C",
          "start": 379,
          "startIntronDirection": "+",
          "startIntronOffset": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XR_001746223.1:n.379+156C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594577"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 379,
          "endIntronDirection": "+",
          "endIntronOffset": 156,
          "referenceAllele": "C",
          "start": 379,
          "startIntronDirection": "+",
          "startIntronOffset": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "NM_005502.4:c.66+156C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005493.2:n.66+156C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666998",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374736.8:c.66+156C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005502.4:c.66+156C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363868.3:n.66+156C>T"
          },
          "RefSeq": {
            "hgvs": "NP_005493.2:n.66+156C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}