{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1481447163",
  "communityStandardTitle": [
    "NM_003998.4(NFKB1):c.1496-372A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4648068",
        "rs": 4648068
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 102597148,
          "referenceAllele": "A",
          "start": 102597147
        }
      ],
      "hgvs": [
        "NC_000004.12:g.102597148A=",
        "CM000666.2:g.102597148A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 103518305,
          "referenceAllele": "A",
          "start": 103518304
        }
      ],
      "hgvs": [
        "NC_000004.11:g.103518305A=",
        "CM000666.1:g.103518305A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 103737343,
          "referenceAllele": "A",
          "start": 103737342
        }
      ],
      "hgvs": [
        "NC_000004.10:g.103737343A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 100820,
          "referenceAllele": "A",
          "start": 100819
        }
      ],
      "hgvs": [
        "NG_050628.1:g.100820A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616748"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2031,
          "endIntronDirection": "-",
          "endIntronOffset": 371,
          "referenceAllele": "A",
          "start": 2031,
          "startIntronDirection": "-",
          "startIntronOffset": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "ENST00000507079.6:c.1520-372A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426147.2:n.1520-372A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905505"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1618,
          "endIntronDirection": "-",
          "endIntronOffset": 371,
          "referenceAllele": "A",
          "start": 1618,
          "startIntronDirection": "-",
          "startIntronOffset": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "ENST00000509165.2:c.1496-372A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423877.2:n.1496-372A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905526"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1520,
          "endIntronDirection": "-",
          "endIntronOffset": 371,
          "referenceAllele": "A",
          "start": 1520,
          "startIntronDirection": "-",
          "startIntronOffset": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "ENST00000697794.1:c.*1137-372A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513443.1:n.*1137-372A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908983"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 992,
          "endIntronDirection": "-",
          "endIntronOffset": 371,
          "referenceAllele": "A",
          "start": 992,
          "startIntronDirection": "-",
          "startIntronOffset": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "ENST00000697799.1:n.993-372A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908988"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 853,
          "referenceAllele": "A",
          "start": 852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "ENST00000698233.1:n.853A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909244"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1932,
          "endIntronDirection": "-",
          "endIntronOffset": 371,
          "referenceAllele": "A",
          "start": 1932,
          "startIntronDirection": "-",
          "startIntronOffset": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "ENST00000226574.9:c.1496-372A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000226574.4:n.1496-372A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740711",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000226574.9:c.1496-372A="
          },
          "RefSeq": {
            "hgvs": "NM_003998.4:c.1496-372A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000226574.4:n.1496-372A="
          },
          "RefSeq": {
            "hgvs": "NP_003989.2:n.1496-372A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1471,
          "endIntronDirection": "-",
          "endIntronOffset": 371,
          "referenceAllele": "A",
          "start": 1471,
          "startIntronDirection": "-",
          "startIntronOffset": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "ENST00000652569.1:c.1472-372A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772281"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1995,
          "endIntronDirection": "+",
          "endIntronOffset": 276,
          "referenceAllele": "A",
          "start": 1995,
          "startIntronDirection": "+",
          "startIntronOffset": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "ENST00000652619.1:c.*22+276A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499031.1:n.*22+276A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772316"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1962,
          "endIntronDirection": "-",
          "endIntronOffset": 371,
          "referenceAllele": "A",
          "start": 1962,
          "startIntronDirection": "-",
          "startIntronOffset": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "ENST00000226574.8:c.1496-372A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000226574.4:n.1496-372A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248567"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1957,
          "endIntronDirection": "-",
          "endIntronOffset": 371,
          "referenceAllele": "A",
          "start": 1957,
          "startIntronDirection": "-",
          "startIntronOffset": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "ENST00000394820.8:c.1493-372A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378297.4:n.1493-372A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276360"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1769,
          "endIntronDirection": "-",
          "endIntronOffset": 371,
          "referenceAllele": "A",
          "start": 1769,
          "startIntronDirection": "-",
          "startIntronOffset": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "ENST00000505458.5:c.1493-372A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424790.1:n.1493-372A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS337245"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2091,
          "endIntronDirection": "-",
          "endIntronOffset": 371,
          "referenceAllele": "A",
          "start": 2091,
          "startIntronDirection": "-",
          "startIntronOffset": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "ENST00000600343.5:c.953-372A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469340.1:n.953-372A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397242"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1959,
          "endIntronDirection": "-",
          "endIntronOffset": 371,
          "referenceAllele": "A",
          "start": 1959,
          "startIntronDirection": "-",
          "startIntronOffset": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "NM_001165412.1:c.1493-372A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001158884.1:n.1493-372A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014708"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1962,
          "endIntronDirection": "-",
          "endIntronOffset": 371,
          "referenceAllele": "A",
          "start": 1962,
          "startIntronDirection": "-",
          "startIntronOffset": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "NM_003998.3:c.1496-372A="
      ],
      "proteinEffect": {
        "hgvs": "NP_003989.2:n.1496-372A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029198"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1670,
          "endIntronDirection": "-",
          "endIntronOffset": 371,
          "referenceAllele": "A",
          "start": 1670,
          "startIntronDirection": "-",
          "startIntronOffset": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "XM_011532006.1:c.1517-372A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530308.1:n.1517-372A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1714,
          "endIntronDirection": "-",
          "endIntronOffset": 371,
          "referenceAllele": "A",
          "start": 1714,
          "startIntronDirection": "-",
          "startIntronOffset": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "XM_011532007.1:c.1493-372A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530309.1:n.1493-372A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099036"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1343,
          "endIntronDirection": "-",
          "endIntronOffset": 371,
          "referenceAllele": "A",
          "start": 1343,
          "startIntronDirection": "-",
          "startIntronOffset": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "XM_011532008.1:c.1337-372A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530310.1:n.1337-372A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1380,
          "endIntronDirection": "-",
          "endIntronOffset": 371,
          "referenceAllele": "A",
          "start": 1380,
          "startIntronDirection": "-",
          "startIntronOffset": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "XM_011532009.1:c.1100-372A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530311.1:n.1100-372A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099038"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1769,
          "endIntronDirection": "-",
          "endIntronOffset": 371,
          "referenceAllele": "A",
          "start": 1769,
          "startIntronDirection": "-",
          "startIntronOffset": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "NM_001319226.1:c.1493-372A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001306155.1:n.1493-372A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1729,
          "endIntronDirection": "-",
          "endIntronOffset": 371,
          "referenceAllele": "A",
          "start": 1729,
          "startIntronDirection": "-",
          "startIntronOffset": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "XM_011532006.2:c.1517-372A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530308.1:n.1517-372A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550649"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2093,
          "endIntronDirection": "-",
          "endIntronOffset": 371,
          "referenceAllele": "A",
          "start": 2093,
          "startIntronDirection": "-",
          "startIntronOffset": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "XM_024454067.1:c.1520-372A="
      ],
      "proteinEffect": {
        "hgvs": "XP_024309835.1:n.1520-372A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587437"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1509,
          "endIntronDirection": "-",
          "endIntronOffset": 371,
          "referenceAllele": "A",
          "start": 1509,
          "startIntronDirection": "-",
          "startIntronOffset": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "XM_024454068.1:c.1496-372A="
      ],
      "proteinEffect": {
        "hgvs": "XP_024309836.1:n.1496-372A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587438"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1936,
          "endIntronDirection": "-",
          "endIntronOffset": 371,
          "referenceAllele": "A",
          "start": 1936,
          "startIntronDirection": "-",
          "startIntronOffset": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "XM_024454069.1:c.1361-372A="
      ],
      "proteinEffect": {
        "hgvs": "XP_024309837.1:n.1361-372A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587439"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1932,
          "endIntronDirection": "-",
          "endIntronOffset": 371,
          "referenceAllele": "A",
          "start": 1932,
          "startIntronDirection": "-",
          "startIntronOffset": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "NM_003998.4:c.1496-372A="
      ],
      "proteinEffect": {
        "hgvs": "NP_003989.2:n.1496-372A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666275",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000226574.9:c.1496-372A="
          },
          "RefSeq": {
            "hgvs": "NM_003998.4:c.1496-372A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000226574.4:n.1496-372A="
          },
          "RefSeq": {
            "hgvs": "NP_003989.2:n.1496-372A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1929,
          "endIntronDirection": "-",
          "endIntronOffset": 371,
          "referenceAllele": "A",
          "start": 1929,
          "startIntronDirection": "-",
          "startIntronOffset": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "NM_001165412.2:c.1493-372A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001158884.1:n.1493-372A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678417"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1733,
          "endIntronDirection": "-",
          "endIntronOffset": 371,
          "referenceAllele": "A",
          "start": 1733,
          "startIntronDirection": "-",
          "startIntronOffset": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "NM_001319226.2:c.1493-372A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001306155.1:n.1493-372A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684766"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1811,
          "endIntronDirection": "-",
          "endIntronOffset": 371,
          "referenceAllele": "A",
          "start": 1811,
          "startIntronDirection": "-",
          "startIntronOffset": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "NM_001382625.1:c.1496-372A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369554.1:n.1496-372A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722469"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2002,
          "endIntronDirection": "-",
          "endIntronOffset": 371,
          "referenceAllele": "A",
          "start": 2002,
          "startIntronDirection": "-",
          "startIntronOffset": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "NM_001382626.1:c.1496-372A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369555.1:n.1496-372A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722470"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1999,
          "endIntronDirection": "-",
          "endIntronOffset": 371,
          "referenceAllele": "A",
          "start": 1999,
          "startIntronDirection": "-",
          "startIntronOffset": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "NM_001382627.1:c.1493-372A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369556.1:n.1493-372A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722471"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1883,
          "endIntronDirection": "-",
          "endIntronOffset": 371,
          "referenceAllele": "A",
          "start": 1883,
          "startIntronDirection": "-",
          "startIntronOffset": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007794",
      "geneNCBI_id": 4790,
      "geneSymbol": "NFKB1",
      "hgvs": [
        "NM_001382628.1:c.1454-372A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369557.1:n.1454-372A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722472"
    }
  ],
  "type": "nucleotide"
}