{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1763926660",
  "communityStandardTitle": [
    "NM_001715.3(BLK):c.-2+441T>G"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2618476",
        "rs": 2618476
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 11495032,
          "referenceAllele": "T",
          "start": 11495031
        }
      ],
      "hgvs": [
        "NC_000008.11:g.11495032T>G",
        "CM000670.2:g.11495032T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 11352541,
          "referenceAllele": "T",
          "start": 11352540
        }
      ],
      "hgvs": [
        "NC_000008.10:g.11352541T>G",
        "CM000670.1:g.11352541T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 11389950,
          "referenceAllele": "T",
          "start": 11389949
        }
      ],
      "hgvs": [
        "NC_000008.9:g.11389950T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6021,
          "referenceAllele": "T",
          "start": 6020
        }
      ],
      "hgvs": [
        "NG_023543.1:g.6021T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003874"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6021,
          "referenceAllele": "T",
          "start": 6020
        }
      ],
      "hgvs": [
        "NG_023543.2:g.6021T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673737"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 274,
          "endIntronDirection": "+",
          "endIntronOffset": 7865,
          "referenceAllele": "T",
          "start": 274,
          "startIntronDirection": "+",
          "startIntronOffset": 7864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "ENST00000696154.2:n.274+7865T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914470"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 274,
          "endIntronDirection": "+",
          "endIntronOffset": 7865,
          "referenceAllele": "T",
          "start": 274,
          "startIntronDirection": "+",
          "startIntronOffset": 7864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "ENST00000696154.1:c.-91+7865T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512445.1:n.-91+7865T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907629"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 205,
          "endIntronDirection": "+",
          "endIntronOffset": 441,
          "referenceAllele": "T",
          "start": 205,
          "startIntronDirection": "+",
          "startIntronOffset": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "ENST00000259089.9:c.-2+441T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000259089.4:n.-2+441T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741958",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000259089.9:c.-2+441T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001715.3:c.-2+441T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000259089.4:n.-2+441T>G"
          },
          "RefSeq": {
            "hgvs": "NP_001706.2:n.-2+441T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 274,
          "endIntronDirection": "+",
          "endIntronOffset": 7865,
          "referenceAllele": "T",
          "start": 274,
          "startIntronDirection": "+",
          "startIntronOffset": 7864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "ENST00000645242.1:c.-91+7865T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494690.1:n.-91+7865T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768241"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 591,
          "endIntronDirection": "+",
          "endIntronOffset": 441,
          "referenceAllele": "T",
          "start": 591,
          "startIntronDirection": "+",
          "startIntronOffset": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "ENST00000259089.8:c.-2+441T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000259089.4:n.-2+441T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250458"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 423,
          "endIntronDirection": "+",
          "endIntronOffset": 441,
          "referenceAllele": "T",
          "start": 423,
          "startIntronDirection": "+",
          "startIntronOffset": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "ENST00000525389.1:n.423+441T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351423"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 202,
          "endIntronDirection": "+",
          "endIntronOffset": 441,
          "referenceAllele": "T",
          "start": 202,
          "startIntronDirection": "+",
          "startIntronOffset": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "ENST00000529894.1:c.-91+441T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433663.1:n.-91+441T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355230"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 580,
          "endIntronDirection": "+",
          "endIntronOffset": 441,
          "referenceAllele": "T",
          "start": 580,
          "startIntronDirection": "+",
          "startIntronOffset": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "NM_001715.2:c.-2+441T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001706.2:n.-2+441T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027049"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 601,
          "endIntronDirection": "+",
          "endIntronOffset": 441,
          "referenceAllele": "T",
          "start": 601,
          "startIntronDirection": "+",
          "startIntronOffset": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "XM_011543824.1:c.-2+441T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542126.1:n.-2+441T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110737"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 601,
          "endIntronDirection": "+",
          "endIntronOffset": 441,
          "referenceAllele": "T",
          "start": 601,
          "startIntronDirection": "+",
          "startIntronOffset": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "XM_011543827.1:c.-91+441T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542129.1:n.-91+441T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110740"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 601,
          "endIntronDirection": "+",
          "endIntronOffset": 441,
          "referenceAllele": "T",
          "start": 601,
          "startIntronDirection": "+",
          "startIntronOffset": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "XM_011543828.1:c.-2+441T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542130.1:n.-2+441T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110741"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 601,
          "endIntronDirection": "+",
          "endIntronOffset": 441,
          "referenceAllele": "T",
          "start": 601,
          "startIntronDirection": "+",
          "startIntronOffset": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "XM_011543829.1:c.-2+441T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542131.1:n.-2+441T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110742"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 600,
          "endIntronDirection": "+",
          "endIntronOffset": 441,
          "referenceAllele": "T",
          "start": 600,
          "startIntronDirection": "+",
          "startIntronOffset": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "NM_001330465.1:c.-91+441T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317394.1:n.-91+441T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516843"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 601,
          "endIntronDirection": "+",
          "endIntronOffset": 441,
          "referenceAllele": "T",
          "start": 601,
          "startIntronDirection": "+",
          "startIntronOffset": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "XM_011543828.3:c.-2+441T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542130.1:n.-2+441T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555385"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 601,
          "endIntronDirection": "+",
          "endIntronOffset": 441,
          "referenceAllele": "T",
          "start": 601,
          "startIntronDirection": "+",
          "startIntronOffset": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "XM_011543829.3:c.-2+441T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542131.1:n.-2+441T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555386"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 205,
          "endIntronDirection": "+",
          "endIntronOffset": 441,
          "referenceAllele": "T",
          "start": 205,
          "startIntronDirection": "+",
          "startIntronOffset": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "NM_001715.3:c.-2+441T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001706.2:n.-2+441T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665131",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000259089.9:c.-2+441T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001715.3:c.-2+441T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000259089.4:n.-2+441T>G"
          },
          "RefSeq": {
            "hgvs": "NP_001706.2:n.-2+441T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 205,
          "endIntronDirection": "+",
          "endIntronOffset": 441,
          "referenceAllele": "T",
          "start": 205,
          "startIntronDirection": "+",
          "startIntronOffset": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "NM_001330465.2:c.-91+441T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317394.1:n.-91+441T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686957"
    }
  ],
  "type": "nucleotide"
}