{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3155919187",
  "communityStandardTitle": [
    "NM_001348946.2(ABCB1):c.2685+638_2685+639del"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2546950254",
        "rs": 2546950254
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 87530658,
          "referenceAllele": "AG",
          "start": 87530656
        }
      ],
      "hgvs": [
        "NC_000007.14:g.87530657_87530658del",
        "CM000669.2:g.87530657_87530658del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 87159974,
          "referenceAllele": "AG",
          "start": 87159972
        }
      ],
      "hgvs": [
        "NC_000007.13:g.87159973_87159974del",
        "CM000669.1:g.87159973_87159974del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 86997910,
          "referenceAllele": "AG",
          "start": 86997908
        }
      ],
      "hgvs": [
        "NC_000007.12:g.86997909_86997910del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 187594,
          "referenceAllele": "CT",
          "start": 187592
        }
      ],
      "hgvs": [
        "NG_011513.1:g.187593_187594del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001780"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3178,
          "endIntronDirection": "+",
          "endIntronOffset": 639,
          "referenceAllele": "CT",
          "start": 3178,
          "startIntronDirection": "+",
          "startIntronOffset": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "ENST00000265724.8:c.2685+638_2685+639del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265724.3:n.2685+638_2685+639del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742877"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2821,
          "endIntronDirection": "+",
          "endIntronOffset": 639,
          "referenceAllele": "CT",
          "start": 2821,
          "startIntronDirection": "+",
          "startIntronOffset": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "ENST00000622132.5:c.2685+638_2685+639del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478255.1:n.2685+638_2685+639del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762354",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000622132.5:c.2685+638_2685+639del"
          },
          "RefSeq": {
            "hgvs": "NM_001348946.2:c.2685+638_2685+639del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000478255.1:n.2685+638_2685+639del"
          },
          "RefSeq": {
            "hgvs": "NP_001335875.1:n.2685+638_2685+639del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3103,
          "endIntronDirection": "+",
          "endIntronOffset": 639,
          "referenceAllele": "CT",
          "start": 3103,
          "startIntronDirection": "+",
          "startIntronOffset": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "ENST00000265724.7:c.2685+638_2685+639del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265724.3:n.2685+638_2685+639del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251807"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 327,
          "endIntronDirection": "+",
          "endIntronOffset": 639,
          "referenceAllele": "CT",
          "start": 327,
          "startIntronDirection": "+",
          "startIntronOffset": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "ENST00000488737.6:n.327+638_327+639del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326954"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 313,
          "endIntronDirection": "+",
          "endIntronOffset": 639,
          "referenceAllele": "CT",
          "start": 313,
          "startIntronDirection": "+",
          "startIntronOffset": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "ENST00000496821.5:n.313+638_313+639del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333203"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2986,
          "endIntronDirection": "+",
          "endIntronOffset": 639,
          "referenceAllele": "CT",
          "start": 2986,
          "startIntronDirection": "+",
          "startIntronOffset": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "ENST00000543898.5:c.2493+638_2493+639del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444095.1:n.2493+638_2493+639del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364276"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3010,
          "endIntronDirection": "+",
          "endIntronOffset": 639,
          "referenceAllele": "CT",
          "start": 3010,
          "startIntronDirection": "+",
          "startIntronOffset": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "ENST00000622132.4:c.2685+638_2685+639del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478255.1:n.2685+638_2685+639del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405578"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3178,
          "endIntronDirection": "+",
          "endIntronOffset": 639,
          "referenceAllele": "CT",
          "start": 3178,
          "startIntronDirection": "+",
          "startIntronOffset": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "NM_000927.4:c.2685+638_2685+639del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000918.2:n.2685+638_2685+639del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006952"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3031,
          "endIntronDirection": "+",
          "endIntronOffset": 639,
          "referenceAllele": "CT",
          "start": 3031,
          "startIntronDirection": "+",
          "startIntronOffset": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "NM_001348944.1:c.2685+638_2685+639del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335873.1:n.2685+638_2685+639del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518363"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3230,
          "endIntronDirection": "+",
          "endIntronOffset": 639,
          "referenceAllele": "CT",
          "start": 3230,
          "startIntronDirection": "+",
          "startIntronOffset": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "NM_001348945.1:c.2895+638_2895+639del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335874.1:n.2895+638_2895+639del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518364"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2825,
          "endIntronDirection": "+",
          "endIntronOffset": 639,
          "referenceAllele": "CT",
          "start": 2825,
          "startIntronDirection": "+",
          "startIntronOffset": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "NM_001348946.1:c.2685+638_2685+639del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335875.1:n.2685+638_2685+639del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518365"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2821,
          "endIntronDirection": "+",
          "endIntronOffset": 639,
          "referenceAllele": "CT",
          "start": 2821,
          "startIntronDirection": "+",
          "startIntronOffset": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "NM_001348946.2:c.2685+638_2685+639del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335875.1:n.2685+638_2685+639del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687785",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000622132.5:c.2685+638_2685+639del"
          },
          "RefSeq": {
            "hgvs": "NM_001348946.2:c.2685+638_2685+639del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000478255.1:n.2685+638_2685+639del"
          },
          "RefSeq": {
            "hgvs": "NP_001335875.1:n.2685+638_2685+639del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3150,
          "endIntronDirection": "+",
          "endIntronOffset": 639,
          "referenceAllele": "CT",
          "start": 3150,
          "startIntronDirection": "+",
          "startIntronOffset": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "NM_000927.5:c.2685+638_2685+639del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000918.2:n.2685+638_2685+639del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710898"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3003,
          "endIntronDirection": "+",
          "endIntronOffset": 639,
          "referenceAllele": "CT",
          "start": 3003,
          "startIntronDirection": "+",
          "startIntronOffset": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "NM_001348944.2:c.2685+638_2685+639del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335873.1:n.2685+638_2685+639del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719200"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3202,
          "endIntronDirection": "+",
          "endIntronOffset": 639,
          "referenceAllele": "CT",
          "start": 3202,
          "startIntronDirection": "+",
          "startIntronOffset": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "NM_001348945.2:c.2895+638_2895+639del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335874.1:n.2895+638_2895+639del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719201"
    }
  ],
  "type": "nucleotide"
}