{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA367637466",
  "communityStandardTitle": [
    "NM_000048.4(ASL):c.13-2A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2982704[alleleid]",
        "alleleId": 2982704,
        "preferredName": "NM_000048.4(ASL):c.13-2A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2825471",
        "RCV": [
          "RCV003604384"
        ],
        "variationId": 2825471
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.65546788A>G?assembly=hg19",
        "id": "chr7:g.65546788A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.66081801A>G?assembly=hg38",
        "id": "chr7:g.66081801A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2484993078",
        "rs": 2484993078
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 66081801,
          "referenceAllele": "A",
          "start": 66081800
        }
      ],
      "hgvs": [
        "NC_000007.14:g.66081801A>G",
        "CM000669.2:g.66081801A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 65546788,
          "referenceAllele": "A",
          "start": 65546787
        }
      ],
      "hgvs": [
        "NC_000007.13:g.65546788A>G",
        "CM000669.1:g.65546788A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 65184223,
          "referenceAllele": "A",
          "start": 65184222
        }
      ],
      "hgvs": [
        "NC_000007.12:g.65184223A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11013,
          "referenceAllele": "A",
          "start": 11012
        }
      ],
      "hgvs": [
        "NG_009288.1:g.11013A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001544"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 93,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 93,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000304874.14:c.13-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307188.9:n.13-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745152",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304874.14:c.13-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000048.4:c.13-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307188.9:n.13-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000039.2:n.13-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 157,
          "endIntronDirection": "-",
          "endIntronOffset": 566,
          "referenceAllele": "A",
          "start": 157,
          "startIntronDirection": "-",
          "startIntronOffset": 567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000362000.10:c.13-567A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354710.6:n.13-567A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749575"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 247,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 247,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000380839.9:c.13-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370219.4:n.13-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752449"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 150,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 150,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395331.4:c.13-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378740.3:n.13-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753384"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 205,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 205,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395332.8:c.13-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378741.3:n.13-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753385"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 149,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 149,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000671817.1:c.13-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500462.1:n.13-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773177"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 260,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 260,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000672498.1:c.13-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500227.1:n.13-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773401"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 112,
          "endIntronDirection": "-",
          "endIntronOffset": 566,
          "referenceAllele": "A",
          "start": 112,
          "startIntronDirection": "-",
          "startIntronOffset": 567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000672586.1:n.113-567A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773425"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 182,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 182,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000672676.1:n.183-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773454"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 260,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 260,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000673350.1:n.261-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773654"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 90,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 90,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000673518.1:c.13-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499889.1:n.13-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773711"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 114,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 114,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000304874.13:c.13-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307188.9:n.13-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255521"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 214,
          "endIntronDirection": "-",
          "endIntronOffset": 566,
          "referenceAllele": "A",
          "start": 214,
          "startIntronDirection": "-",
          "startIntronOffset": 567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000362000.9:c.13-567A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354710.5:n.13-567A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265746"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 228,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 228,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000380839.8:c.13-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370219.4:n.13-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273115"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 210,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 210,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395331.3:c.13-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378740.3:n.13-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276634"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 220,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 220,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395332.7:c.13-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378741.3:n.13-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276635"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 78,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 78,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000487982.5:n.79-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326409"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 253,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 253,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000496336.1:n.254-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332834"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 123,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 123,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_000048.3:c.13-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000039.2:n.13-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006113"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 247,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 247,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024943.1:c.13-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020114.1:n.13-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008813"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 247,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 247,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024944.1:c.13-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020115.1:n.13-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008814"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 247,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 247,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024946.1:c.13-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020117.1:n.13-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008815"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 93,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 93,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_000048.4:c.13-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000039.2:n.13-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674677",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304874.14:c.13-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000048.4:c.13-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307188.9:n.13-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000039.2:n.13-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 275,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 275,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024943.2:c.13-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020114.1:n.13-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675647"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 275,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 275,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024944.2:c.13-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020115.1:n.13-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675648"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 275,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 275,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024946.2:c.13-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020117.1:n.13-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675649"
    }
  ],
  "type": "nucleotide"
}