{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA11695751",
  "communityStandardTitle": [
    "NM_017935.5(BANK1):c.71-13715G>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.102737250G>A?assembly=hg19",
        "id": "chr4:g.102737250G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.101816093G>A?assembly=hg38",
        "id": "chr4:g.101816093G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10028805",
        "rs": 10028805
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-102737250-G-A?dataset=gnomad_r2_1",
        "id": "4-102737250-G-A",
        "variant": "4:102737250 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-101816093-G-A?dataset=gnomad_r3",
        "id": "4-101816093-G-A",
        "variant": "4:101816093 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-101816093-G-A?dataset=gnomad_r4",
        "id": "4-101816093-G-A",
        "variant": "4:101816093 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 101816093,
          "referenceAllele": "G",
          "start": 101816092
        }
      ],
      "hgvs": [
        "NC_000004.12:g.101816093G>A",
        "CM000666.2:g.101816093G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 102737250,
          "referenceAllele": "G",
          "start": 102737249
        }
      ],
      "hgvs": [
        "NC_000004.11:g.102737250G>A",
        "CM000666.1:g.102737250G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 102956273,
          "referenceAllele": "G",
          "start": 102956272
        }
      ],
      "hgvs": [
        "NC_000004.10:g.102956273G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 30487,
          "referenceAllele": "G",
          "start": 30486
        }
      ],
      "hgvs": [
        "NG_015824.1:g.30487G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002856"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 221,
          "endIntronDirection": "-",
          "endIntronOffset": 13714,
          "referenceAllele": "G",
          "start": 221,
          "startIntronDirection": "-",
          "startIntronOffset": 13715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018233",
      "geneNCBI_id": 55024,
      "geneSymbol": "BANK1",
      "hgvs": [
        "ENST00000322953.9:c.71-13715G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320509.4:n.71-13715G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746528",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000322953.9:c.71-13715G>A"
          },
          "RefSeq": {
            "hgvs": "NM_017935.5:c.71-13715G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000320509.4:n.71-13715G>A"
          },
          "RefSeq": {
            "hgvs": "NP_060405.5:n.71-13715G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 344,
          "endIntronDirection": "-",
          "endIntronOffset": 13714,
          "referenceAllele": "G",
          "start": 344,
          "startIntronDirection": "-",
          "startIntronOffset": 13715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018233",
      "geneNCBI_id": 55024,
      "geneSymbol": "BANK1",
      "hgvs": [
        "ENST00000322953.8:c.71-13715G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320509.4:n.71-13715G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258148"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 344,
          "endIntronDirection": "+",
          "endIntronOffset": 25143,
          "referenceAllele": "G",
          "start": 344,
          "startIntronDirection": "+",
          "startIntronOffset": 25142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018233",
      "geneNCBI_id": 55024,
      "geneSymbol": "BANK1",
      "hgvs": [
        "ENST00000428908.5:c.70+25143G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412748.1:n.70+25143G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290420"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 113,
          "endIntronDirection": "+",
          "endIntronOffset": 2155,
          "referenceAllele": "G",
          "start": 113,
          "startIntronDirection": "+",
          "startIntronOffset": 2154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018233",
      "geneNCBI_id": 55024,
      "geneSymbol": "BANK1",
      "hgvs": [
        "ENST00000444316.2:c.-21+2155G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388817.2:n.-21+2155G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297753"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 443,
          "endIntronDirection": "-",
          "endIntronOffset": 13714,
          "referenceAllele": "G",
          "start": 443,
          "startIntronDirection": "-",
          "startIntronOffset": 13715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018233",
      "geneNCBI_id": 55024,
      "geneSymbol": "BANK1",
      "hgvs": [
        "ENST00000504592.5:c.26-13715G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421443.1:n.26-13715G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336610"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 221,
          "endIntronDirection": "+",
          "endIntronOffset": 25143,
          "referenceAllele": "G",
          "start": 221,
          "startIntronDirection": "+",
          "startIntronOffset": 25142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018233",
      "geneNCBI_id": 55024,
      "geneSymbol": "BANK1",
      "hgvs": [
        "ENST00000508653.5:c.70+25143G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422314.1:n.70+25143G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339626"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 113,
          "endIntronDirection": "+",
          "endIntronOffset": 2155,
          "referenceAllele": "G",
          "start": 113,
          "startIntronDirection": "+",
          "startIntronOffset": 2154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018233",
      "geneNCBI_id": 55024,
      "geneSymbol": "BANK1",
      "hgvs": [
        "NM_001083907.2:c.-21+2155G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077376.2:n.-21+2155G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010418"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 344,
          "endIntronDirection": "+",
          "endIntronOffset": 25143,
          "referenceAllele": "G",
          "start": 344,
          "startIntronDirection": "+",
          "startIntronOffset": 25142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018233",
      "geneNCBI_id": 55024,
      "geneSymbol": "BANK1",
      "hgvs": [
        "NM_001127507.2:c.70+25143G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120979.2:n.70+25143G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011633"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 344,
          "endIntronDirection": "-",
          "endIntronOffset": 13714,
          "referenceAllele": "G",
          "start": 344,
          "startIntronDirection": "-",
          "startIntronOffset": 13715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018233",
      "geneNCBI_id": 55024,
      "geneSymbol": "BANK1",
      "hgvs": [
        "NM_017935.4:c.71-13715G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_060405.4:n.71-13715G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035321"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 91,
          "endIntronDirection": "-",
          "endIntronOffset": 13714,
          "referenceAllele": "G",
          "start": 91,
          "startIntronDirection": "-",
          "startIntronOffset": 13715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018233",
      "geneNCBI_id": 55024,
      "geneSymbol": "BANK1",
      "hgvs": [
        "XM_017008337.2:c.-20-13715G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863826.1:n.-20-13715G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562857"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 221,
          "endIntronDirection": "-",
          "endIntronOffset": 13714,
          "referenceAllele": "G",
          "start": 221,
          "startIntronDirection": "-",
          "startIntronOffset": 13715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018233",
      "geneNCBI_id": 55024,
      "geneSymbol": "BANK1",
      "hgvs": [
        "NM_017935.5:c.71-13715G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_060405.5:n.71-13715G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669438",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000322953.9:c.71-13715G>A"
          },
          "RefSeq": {
            "hgvs": "NM_017935.5:c.71-13715G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000320509.4:n.71-13715G>A"
          },
          "RefSeq": {
            "hgvs": "NP_060405.5:n.71-13715G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 97,
          "endIntronDirection": "+",
          "endIntronOffset": 2155,
          "referenceAllele": "G",
          "start": 97,
          "startIntronDirection": "+",
          "startIntronOffset": 2154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018233",
      "geneNCBI_id": 55024,
      "geneSymbol": "BANK1",
      "hgvs": [
        "NM_001083907.3:c.-21+2155G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077376.3:n.-21+2155G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676364"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 221,
          "endIntronDirection": "+",
          "endIntronOffset": 25143,
          "referenceAllele": "G",
          "start": 221,
          "startIntronDirection": "+",
          "startIntronOffset": 25142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018233",
      "geneNCBI_id": 55024,
      "geneSymbol": "BANK1",
      "hgvs": [
        "NM_001127507.3:c.70+25143G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120979.3:n.70+25143G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712219"
    }
  ],
  "type": "nucleotide"
}