{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2018045140",
  "communityStandardTitle": [
    "NM_005845.5(ABCC4):c.3348G= (p.Lys1116=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1751034",
        "rs": 1751034
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1555306636",
        "rs": 1555306636
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 95062722,
          "referenceAllele": "C",
          "start": 95062721
        }
      ],
      "hgvs": [
        "NC_000013.11:g.95062722C=",
        "CM000675.2:g.95062722C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 95714976,
          "referenceAllele": "C",
          "start": 95714975
        }
      ],
      "hgvs": [
        "NC_000013.10:g.95714976C=",
        "CM000675.1:g.95714976C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 94512977,
          "referenceAllele": "C",
          "start": 94512976
        }
      ],
      "hgvs": [
        "NC_000013.9:g.94512977C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 243725,
          "referenceAllele": "G",
          "start": 243724
        }
      ],
      "hgvs": [
        "NG_050651.1:g.243725G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616767"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 243725,
          "referenceAllele": "G",
          "start": 243724
        }
      ],
      "hgvs": [
        "NG_050651.2:g.243725G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733367"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3537,
          "referenceAllele": "G",
          "start": 3536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "ENST00000643051.1:c.*973G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495513.1:n.*973G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767063"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3651,
          "referenceAllele": "G",
          "start": 3650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "ENST00000643842.1:c.*3394G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493861.1:n.*3394G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767503"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3485,
          "referenceAllele": "G",
          "start": 3484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "ENST00000645237.2:c.3348G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494609.1:p.Lys1116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768238",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645237.2:c.3348G="
          },
          "RefSeq": {
            "hgvs": "NM_005845.5:c.3348G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494609.1:p.Lys1116="
          },
          "RefSeq": {
            "hgvs": "NP_005836.2:p.Lys1116="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3212,
          "referenceAllele": "G",
          "start": 3211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "ENST00000646439.1:c.3207G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494751.1:p.Lys1069="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768873"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3463,
          "referenceAllele": "G",
          "start": 3462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "ENST00000376887.8:c.3348G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366084.4:p.Lys1116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3339,
          "referenceAllele": "G",
          "start": 3338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "NM_001301829.1:c.3207G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001288758.1:p.Lys1069="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025247"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080622357",
      "coordinates": [
        {
          "allele": "G",
          "end": 3480,
          "referenceAllele": "G",
          "start": 3479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "NM_005845.4:c.3348G="
      ],
      "proteinEffect": {
        "hgvs": "NP_005836.2:p.Lys1116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030905"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3540,
          "referenceAllele": "G",
          "start": 3539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "XM_005254025.2:c.3219G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005254082.1:p.Lys1073="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060466"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3385,
          "referenceAllele": "G",
          "start": 3384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "XM_006719914.1:c.3258G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006719977.1:p.Lys1086="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073389"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2838,
          "referenceAllele": "G",
          "start": 2837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "XM_011521047.1:c.2799G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519349.1:p.Lys933="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088211"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3626,
          "referenceAllele": "G",
          "start": 3625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "XM_017020319.1:c.3219G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016875808.1:p.Lys1073="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571820"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2995,
          "referenceAllele": "G",
          "start": 2994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "XM_017020321.1:c.1833G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016875810.1:p.Lys611="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571822"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3344,
          "referenceAllele": "G",
          "start": 3343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "NM_001301829.2:c.3207G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001288758.1:p.Lys1069="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683434"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080622357",
      "coordinates": [
        {
          "allele": "G",
          "end": 3485,
          "referenceAllele": "G",
          "start": 3484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000055",
      "geneNCBI_id": 10257,
      "geneSymbol": "ABCC4",
      "hgvs": [
        "NM_005845.5:c.3348G="
      ],
      "proteinEffect": {
        "hgvs": "NP_005836.2:p.Lys1116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727674",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645237.2:c.3348G="
          },
          "RefSeq": {
            "hgvs": "NM_005845.5:c.3348G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494609.1:p.Lys1116="
          },
          "RefSeq": {
            "hgvs": "NP_005836.2:p.Lys1116="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}