{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1481082858",
  "communityStandardTitle": [
    "NM_017935.5(BANK1):c.70+3781G>C"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4522865",
        "rs": 4522865
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 101794731,
          "referenceAllele": "G",
          "start": 101794730
        }
      ],
      "hgvs": [
        "NC_000004.12:g.101794731G>C",
        "CM000666.2:g.101794731G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 102715888,
          "referenceAllele": "G",
          "start": 102715887
        }
      ],
      "hgvs": [
        "NC_000004.11:g.102715888G>C",
        "CM000666.1:g.102715888G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 102934911,
          "referenceAllele": "G",
          "start": 102934910
        }
      ],
      "hgvs": [
        "NC_000004.10:g.102934911G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9125,
          "referenceAllele": "G",
          "start": 9124
        }
      ],
      "hgvs": [
        "NG_015824.1:g.9125G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002856"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 221,
          "endIntronDirection": "+",
          "endIntronOffset": 3781,
          "referenceAllele": "G",
          "start": 221,
          "startIntronDirection": "+",
          "startIntronOffset": 3780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018233",
      "geneNCBI_id": 55024,
      "geneSymbol": "BANK1",
      "hgvs": [
        "ENST00000322953.9:c.70+3781G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320509.4:n.70+3781G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746528",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000322953.9:c.70+3781G>C"
          },
          "RefSeq": {
            "hgvs": "NM_017935.5:c.70+3781G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000320509.4:n.70+3781G>C"
          },
          "RefSeq": {
            "hgvs": "NP_060405.5:n.70+3781G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 344,
          "endIntronDirection": "+",
          "endIntronOffset": 3781,
          "referenceAllele": "G",
          "start": 344,
          "startIntronDirection": "+",
          "startIntronOffset": 3780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018233",
      "geneNCBI_id": 55024,
      "geneSymbol": "BANK1",
      "hgvs": [
        "ENST00000322953.8:c.70+3781G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320509.4:n.70+3781G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258148"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 344,
          "endIntronDirection": "+",
          "endIntronOffset": 3781,
          "referenceAllele": "G",
          "start": 344,
          "startIntronDirection": "+",
          "startIntronOffset": 3780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018233",
      "geneNCBI_id": 55024,
      "geneSymbol": "BANK1",
      "hgvs": [
        "ENST00000428908.5:c.70+3781G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412748.1:n.70+3781G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290420"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 443,
          "endIntronDirection": "-",
          "endIntronOffset": 35076,
          "referenceAllele": "G",
          "start": 443,
          "startIntronDirection": "-",
          "startIntronOffset": 35077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018233",
      "geneNCBI_id": 55024,
      "geneSymbol": "BANK1",
      "hgvs": [
        "ENST00000504592.5:c.26-35077G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421443.1:n.26-35077G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336610"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 221,
          "endIntronDirection": "+",
          "endIntronOffset": 3781,
          "referenceAllele": "G",
          "start": 221,
          "startIntronDirection": "+",
          "startIntronOffset": 3780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018233",
      "geneNCBI_id": 55024,
      "geneSymbol": "BANK1",
      "hgvs": [
        "ENST00000508653.5:c.70+3781G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422314.1:n.70+3781G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339626"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 344,
          "endIntronDirection": "+",
          "endIntronOffset": 3781,
          "referenceAllele": "G",
          "start": 344,
          "startIntronDirection": "+",
          "startIntronOffset": 3780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018233",
      "geneNCBI_id": 55024,
      "geneSymbol": "BANK1",
      "hgvs": [
        "NM_001127507.2:c.70+3781G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120979.2:n.70+3781G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011633"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 344,
          "endIntronDirection": "+",
          "endIntronOffset": 3781,
          "referenceAllele": "G",
          "start": 344,
          "startIntronDirection": "+",
          "startIntronOffset": 3780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018233",
      "geneNCBI_id": 55024,
      "geneSymbol": "BANK1",
      "hgvs": [
        "NM_017935.4:c.70+3781G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060405.4:n.70+3781G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035321"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 91,
          "endIntronDirection": "+",
          "endIntronOffset": 4159,
          "referenceAllele": "G",
          "start": 91,
          "startIntronDirection": "+",
          "startIntronOffset": 4158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018233",
      "geneNCBI_id": 55024,
      "geneSymbol": "BANK1",
      "hgvs": [
        "XM_017008337.2:c.-21+4159G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863826.1:n.-21+4159G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562857"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 221,
          "endIntronDirection": "+",
          "endIntronOffset": 3781,
          "referenceAllele": "G",
          "start": 221,
          "startIntronDirection": "+",
          "startIntronOffset": 3780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018233",
      "geneNCBI_id": 55024,
      "geneSymbol": "BANK1",
      "hgvs": [
        "NM_017935.5:c.70+3781G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060405.5:n.70+3781G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669438",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000322953.9:c.70+3781G>C"
          },
          "RefSeq": {
            "hgvs": "NM_017935.5:c.70+3781G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000320509.4:n.70+3781G>C"
          },
          "RefSeq": {
            "hgvs": "NP_060405.5:n.70+3781G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 221,
          "endIntronDirection": "+",
          "endIntronOffset": 3781,
          "referenceAllele": "G",
          "start": 221,
          "startIntronDirection": "+",
          "startIntronOffset": 3780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018233",
      "geneNCBI_id": 55024,
      "geneSymbol": "BANK1",
      "hgvs": [
        "NM_001127507.3:c.70+3781G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120979.3:n.70+3781G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712219"
    }
  ],
  "type": "nucleotide"
}