{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1338125863",
  "communityStandardTitle": [
    "NM_001040445.3(ASB1):c.495-3621G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3769124",
        "rs": 3769124
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 238440721,
          "referenceAllele": "G",
          "start": 238440720
        }
      ],
      "hgvs": [
        "NC_000002.12:g.238440721G=",
        "CM000664.2:g.238440721G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 239349362,
          "referenceAllele": "G",
          "start": 239349361
        }
      ],
      "hgvs": [
        "NC_000002.11:g.239349362G=",
        "CM000664.1:g.239349362G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 239014101,
          "referenceAllele": "G",
          "start": 239014100
        }
      ],
      "hgvs": [
        "NC_000002.10:g.239014101G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 638,
          "endIntronDirection": "-",
          "endIntronOffset": 3620,
          "referenceAllele": "G",
          "start": 638,
          "startIntronDirection": "-",
          "startIntronOffset": 3621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016011",
      "geneNCBI_id": 51665,
      "geneSymbol": "ASB1",
      "hgvs": [
        "ENST00000264607.9:c.495-3621G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264607.4:n.495-3621G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742697",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264607.9:c.495-3621G="
          },
          "RefSeq": {
            "hgvs": "NM_001040445.3:c.495-3621G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264607.4:n.495-3621G="
          },
          "RefSeq": {
            "hgvs": "NP_001035535.1:n.495-3621G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 741,
          "endIntronDirection": "-",
          "endIntronOffset": 3620,
          "referenceAllele": "G",
          "start": 741,
          "startIntronDirection": "-",
          "startIntronOffset": 3621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016011",
      "geneNCBI_id": 51665,
      "geneSymbol": "ASB1",
      "hgvs": [
        "ENST00000264607.8:c.495-3621G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264607.4:n.495-3621G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251537"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 258,
          "endIntronDirection": "-",
          "endIntronOffset": 3620,
          "referenceAllele": "G",
          "start": 258,
          "startIntronDirection": "-",
          "startIntronOffset": 3621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016011",
      "geneNCBI_id": 51665,
      "geneSymbol": "ASB1",
      "hgvs": [
        "ENST00000409297.1:c.192-3621G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387025.1:n.192-3621G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281425"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 394,
          "endIntronDirection": "-",
          "endIntronOffset": 3620,
          "referenceAllele": "G",
          "start": 394,
          "startIntronDirection": "-",
          "startIntronOffset": 3621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016011",
      "geneNCBI_id": 51665,
      "geneSymbol": "ASB1",
      "hgvs": [
        "ENST00000438264.5:c.*167-3621G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411773.1:n.*167-3621G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294847"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 535,
          "endIntronDirection": "-",
          "endIntronOffset": 3620,
          "referenceAllele": "G",
          "start": 535,
          "startIntronDirection": "-",
          "startIntronOffset": 3621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016011",
      "geneNCBI_id": 51665,
      "geneSymbol": "ASB1",
      "hgvs": [
        "ENST00000463352.5:n.536-3621G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307405"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 93,
          "endIntronDirection": "-",
          "endIntronOffset": 3620,
          "referenceAllele": "G",
          "start": 93,
          "startIntronDirection": "-",
          "startIntronOffset": 3621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016011",
      "geneNCBI_id": 51665,
      "geneSymbol": "ASB1",
      "hgvs": [
        "ENST00000468122.1:n.94-3621G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311108"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 685,
          "endIntronDirection": "-",
          "endIntronOffset": 3620,
          "referenceAllele": "G",
          "start": 685,
          "startIntronDirection": "-",
          "startIntronOffset": 3621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016011",
      "geneNCBI_id": 51665,
      "geneSymbol": "ASB1",
      "hgvs": [
        "ENST00000491653.1:n.686-3621G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329211"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 580,
          "endIntronDirection": "-",
          "endIntronOffset": 3620,
          "referenceAllele": "G",
          "start": 580,
          "startIntronDirection": "-",
          "startIntronOffset": 3621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016011",
      "geneNCBI_id": 51665,
      "geneSymbol": "ASB1",
      "hgvs": [
        "NM_001040445.1:c.495-3621G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035535.1:n.495-3621G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009587"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 521,
          "endIntronDirection": "-",
          "endIntronOffset": 3620,
          "referenceAllele": "G",
          "start": 521,
          "startIntronDirection": "-",
          "startIntronOffset": 3621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016011",
      "geneNCBI_id": 51665,
      "geneSymbol": "ASB1",
      "hgvs": [
        "XM_005246080.1:c.192-3621G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005246137.1:n.192-3621G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057458"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 824,
          "endIntronDirection": "-",
          "endIntronOffset": 3620,
          "referenceAllele": "G",
          "start": 824,
          "startIntronDirection": "-",
          "startIntronOffset": 3621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016011",
      "geneNCBI_id": 51665,
      "geneSymbol": "ASB1",
      "hgvs": [
        "XR_241236.1:n.825-3621G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 824,
          "endIntronDirection": "-",
          "endIntronOffset": 3620,
          "referenceAllele": "G",
          "start": 824,
          "startIntronDirection": "-",
          "startIntronOffset": 3621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016011",
      "geneNCBI_id": 51665,
      "geneSymbol": "ASB1",
      "hgvs": [
        "XR_241237.1:n.825-3621G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 637,
          "endIntronDirection": "-",
          "endIntronOffset": 3620,
          "referenceAllele": "G",
          "start": 637,
          "startIntronDirection": "-",
          "startIntronOffset": 3621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016011",
      "geneNCBI_id": 51665,
      "geneSymbol": "ASB1",
      "hgvs": [
        "NM_001040445.2:c.495-3621G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035535.1:n.495-3621G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511154"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 334,
          "endIntronDirection": "-",
          "endIntronOffset": 3620,
          "referenceAllele": "G",
          "start": 334,
          "startIntronDirection": "-",
          "startIntronOffset": 3621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016011",
      "geneNCBI_id": 51665,
      "geneSymbol": "ASB1",
      "hgvs": [
        "NM_001330196.1:c.192-3621G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317125.1:n.192-3621G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516598"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 638,
          "endIntronDirection": "-",
          "endIntronOffset": 3620,
          "referenceAllele": "G",
          "start": 638,
          "startIntronDirection": "-",
          "startIntronOffset": 3621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016011",
      "geneNCBI_id": 51665,
      "geneSymbol": "ASB1",
      "hgvs": [
        "NM_001040445.3:c.495-3621G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035535.1:n.495-3621G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663165",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264607.9:c.495-3621G="
          },
          "RefSeq": {
            "hgvs": "NM_001040445.3:c.495-3621G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264607.4:n.495-3621G="
          },
          "RefSeq": {
            "hgvs": "NP_001035535.1:n.495-3621G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 335,
          "endIntronDirection": "-",
          "endIntronOffset": 3620,
          "referenceAllele": "G",
          "start": 335,
          "startIntronDirection": "-",
          "startIntronOffset": 3621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016011",
      "geneNCBI_id": 51665,
      "geneSymbol": "ASB1",
      "hgvs": [
        "NM_001330196.2:c.192-3621G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317125.1:n.192-3621G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686804"
    }
  ],
  "type": "nucleotide"
}