{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA15537492",
  "communityStandardTitle": [
    "NM_001348946.2(ABCB1):c.286+1838A>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.87212990T>A?assembly=hg19",
        "id": "chr7:g.87212990T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.87583674T>A?assembly=hg38",
        "id": "chr7:g.87583674T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/17327442",
        "rs": 17327442
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-87212990-T-A?dataset=gnomad_r2_1",
        "id": "7-87212990-T-A",
        "variant": "7:87212990 T / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-87583674-T-A?dataset=gnomad_r3",
        "id": "7-87583674-T-A",
        "variant": "7:87583674 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-87583674-T-A?dataset=gnomad_r4",
        "id": "7-87583674-T-A",
        "variant": "7:87583674 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 87583674,
          "referenceAllele": "T",
          "start": 87583673
        }
      ],
      "hgvs": [
        "NC_000007.14:g.87583674T>A",
        "CM000669.2:g.87583674T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 87212990,
          "referenceAllele": "T",
          "start": 87212989
        }
      ],
      "hgvs": [
        "NC_000007.13:g.87212990T>A",
        "CM000669.1:g.87212990T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 87050926,
          "referenceAllele": "T",
          "start": 87050925
        }
      ],
      "hgvs": [
        "NC_000007.12:g.87050926T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 134575,
          "referenceAllele": "A",
          "start": 134574
        }
      ],
      "hgvs": [
        "NG_011513.1:g.134575A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001780"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 779,
          "endIntronDirection": "+",
          "endIntronOffset": 1838,
          "referenceAllele": "A",
          "start": 779,
          "startIntronDirection": "+",
          "startIntronOffset": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "ENST00000265724.8:c.286+1838A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265724.3:n.286+1838A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 422,
          "endIntronDirection": "+",
          "endIntronOffset": 1838,
          "referenceAllele": "A",
          "start": 422,
          "startIntronDirection": "+",
          "startIntronOffset": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "ENST00000622132.5:c.286+1838A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478255.1:n.286+1838A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762354",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000622132.5:c.286+1838A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001348946.2:c.286+1838A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000478255.1:n.286+1838A>T"
          },
          "RefSeq": {
            "hgvs": "NP_001335875.1:n.286+1838A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 704,
          "endIntronDirection": "+",
          "endIntronOffset": 1838,
          "referenceAllele": "A",
          "start": 704,
          "startIntronDirection": "+",
          "startIntronOffset": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "ENST00000265724.7:c.286+1838A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265724.3:n.286+1838A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251807"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 779,
          "endIntronDirection": "+",
          "endIntronOffset": 1838,
          "referenceAllele": "A",
          "start": 779,
          "startIntronDirection": "+",
          "startIntronOffset": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "ENST00000543898.5:c.286+1838A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444095.1:n.286+1838A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364276"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 611,
          "endIntronDirection": "+",
          "endIntronOffset": 1838,
          "referenceAllele": "A",
          "start": 611,
          "startIntronDirection": "+",
          "startIntronOffset": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "ENST00000622132.4:c.286+1838A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478255.1:n.286+1838A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405578"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 779,
          "endIntronDirection": "+",
          "endIntronOffset": 1838,
          "referenceAllele": "A",
          "start": 779,
          "startIntronDirection": "+",
          "startIntronOffset": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "NM_000927.4:c.286+1838A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000918.2:n.286+1838A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006952"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 632,
          "endIntronDirection": "+",
          "endIntronOffset": 1838,
          "referenceAllele": "A",
          "start": 632,
          "startIntronDirection": "+",
          "startIntronOffset": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "NM_001348944.1:c.286+1838A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335873.1:n.286+1838A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518363"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 831,
          "endIntronDirection": "+",
          "endIntronOffset": 1838,
          "referenceAllele": "A",
          "start": 831,
          "startIntronDirection": "+",
          "startIntronOffset": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "NM_001348945.1:c.496+1838A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335874.1:n.496+1838A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518364"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "endIntronDirection": "+",
          "endIntronOffset": 1838,
          "referenceAllele": "A",
          "start": 426,
          "startIntronDirection": "+",
          "startIntronOffset": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "NM_001348946.1:c.286+1838A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335875.1:n.286+1838A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518365"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 422,
          "endIntronDirection": "+",
          "endIntronOffset": 1838,
          "referenceAllele": "A",
          "start": 422,
          "startIntronDirection": "+",
          "startIntronOffset": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "NM_001348946.2:c.286+1838A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335875.1:n.286+1838A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687785",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000622132.5:c.286+1838A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001348946.2:c.286+1838A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000478255.1:n.286+1838A>T"
          },
          "RefSeq": {
            "hgvs": "NP_001335875.1:n.286+1838A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 751,
          "endIntronDirection": "+",
          "endIntronOffset": 1838,
          "referenceAllele": "A",
          "start": 751,
          "startIntronDirection": "+",
          "startIntronOffset": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "NM_000927.5:c.286+1838A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000918.2:n.286+1838A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710898"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 604,
          "endIntronDirection": "+",
          "endIntronOffset": 1838,
          "referenceAllele": "A",
          "start": 604,
          "startIntronDirection": "+",
          "startIntronOffset": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "NM_001348944.2:c.286+1838A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335873.1:n.286+1838A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719200"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 803,
          "endIntronDirection": "+",
          "endIntronOffset": 1838,
          "referenceAllele": "A",
          "start": 803,
          "startIntronDirection": "+",
          "startIntronOffset": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "NM_001348945.2:c.496+1838A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335874.1:n.496+1838A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719201"
    }
  ],
  "type": "nucleotide"
}