{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2580590007",
  "communityStandardTitle": [
    "NM_004346.4(CASP3):c.*337T>G"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1049216",
        "rs": 1049216
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-184628935-A-C?dataset=gnomad_r3",
        "id": "4-184628935-A-C",
        "variant": "4:184628935 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-184628935-A-C?dataset=gnomad_r4",
        "id": "4-184628935-A-C",
        "variant": "4:184628935 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 184628935,
          "referenceAllele": "A",
          "start": 184628934
        }
      ],
      "hgvs": [
        "NC_000004.12:g.184628935A>C",
        "CM000666.2:g.184628935A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 185550089,
          "referenceAllele": "A",
          "start": 185550088
        }
      ],
      "hgvs": [
        "NC_000004.11:g.185550089A>C",
        "CM000666.1:g.185550089A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 185787083,
          "referenceAllele": "A",
          "start": 185787082
        }
      ],
      "hgvs": [
        "NC_000004.10:g.185787083A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1601,
          "referenceAllele": "T",
          "start": 1600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001504",
      "geneNCBI_id": 836,
      "geneSymbol": "CASP3",
      "hgvs": [
        "ENST00000700100.1:c.*337T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514797.1:n.*337T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910951"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1257,
          "referenceAllele": "T",
          "start": 1256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001504",
      "geneNCBI_id": 836,
      "geneSymbol": "CASP3",
      "hgvs": [
        "ENST00000700101.1:c.*337T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514798.1:n.*337T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910952"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2774,
          "referenceAllele": "T",
          "start": 2773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001504",
      "geneNCBI_id": 836,
      "geneSymbol": "CASP3",
      "hgvs": [
        "ENST00000700102.1:n.2774T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910953"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4136,
          "referenceAllele": "T",
          "start": 4135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001504",
      "geneNCBI_id": 836,
      "geneSymbol": "CASP3",
      "hgvs": [
        "ENST00000700103.1:n.4136T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910954"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1114,
          "referenceAllele": "T",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001504",
      "geneNCBI_id": 836,
      "geneSymbol": "CASP3",
      "hgvs": [
        "ENST00000700104.1:c.*920T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514799.1:n.*920T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1406,
          "referenceAllele": "T",
          "start": 1405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001504",
      "geneNCBI_id": 836,
      "geneSymbol": "CASP3",
      "hgvs": [
        "ENST00000308394.9:c.*337T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311032.4:n.*337T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745462",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000308394.9:c.*337T>G"
          },
          "RefSeq": {
            "hgvs": "NM_004346.4:c.*337T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000311032.4:n.*337T>G"
          },
          "RefSeq": {
            "hgvs": "NP_004337.2:n.*337T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1434,
          "referenceAllele": "T",
          "start": 1433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001504",
      "geneNCBI_id": 836,
      "geneSymbol": "CASP3",
      "hgvs": [
        "ENST00000308394.8:c.*337T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311032.4:n.*337T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256052"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1385,
          "referenceAllele": "T",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001504",
      "geneNCBI_id": 836,
      "geneSymbol": "CASP3",
      "hgvs": [
        "ENST00000393585.6:c.*501T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377210.2:n.*501T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275705"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1301,
          "referenceAllele": "T",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001504",
      "geneNCBI_id": 836,
      "geneSymbol": "CASP3",
      "hgvs": [
        "ENST00000523916.5:c.*337T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428929.1:n.*337T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350183"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1383,
          "referenceAllele": "T",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001504",
      "geneNCBI_id": 836,
      "geneSymbol": "CASP3",
      "hgvs": [
        "ENST00000613118.4:c.*604T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478339.1:n.*604T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401609"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1434,
          "referenceAllele": "T",
          "start": 1433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001504",
      "geneNCBI_id": 836,
      "geneSymbol": "CASP3",
      "hgvs": [
        "NM_004346.3:c.*337T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004337.2:n.*337T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029514"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1267,
          "referenceAllele": "T",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001504",
      "geneNCBI_id": 836,
      "geneSymbol": "CASP3",
      "hgvs": [
        "NM_032991.2:c.*337T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_116786.1:n.*337T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039448"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1368,
          "referenceAllele": "T",
          "start": 1367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001504",
      "geneNCBI_id": 836,
      "geneSymbol": "CASP3",
      "hgvs": [
        "XM_011532301.1:c.*337T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530603.1:n.*337T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099328"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1396,
          "referenceAllele": "T",
          "start": 1395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001504",
      "geneNCBI_id": 836,
      "geneSymbol": "CASP3",
      "hgvs": [
        "NM_001354777.1:c.*337T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341706.1:n.*337T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522679"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1263,
          "referenceAllele": "T",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001504",
      "geneNCBI_id": 836,
      "geneSymbol": "CASP3",
      "hgvs": [
        "NM_001354779.1:c.*337T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341708.1:n.*337T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522680"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1430,
          "referenceAllele": "T",
          "start": 1429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001504",
      "geneNCBI_id": 836,
      "geneSymbol": "CASP3",
      "hgvs": [
        "NM_001354780.1:c.*337T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341709.1:n.*337T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522681"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1146,
          "referenceAllele": "T",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001504",
      "geneNCBI_id": 836,
      "geneSymbol": "CASP3",
      "hgvs": [
        "NM_001354781.1:c.*501T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341710.1:n.*501T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522682"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1313,
          "referenceAllele": "T",
          "start": 1312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001504",
      "geneNCBI_id": 836,
      "geneSymbol": "CASP3",
      "hgvs": [
        "NM_001354782.1:c.*501T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341711.1:n.*501T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522683"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1505,
          "referenceAllele": "T",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001504",
      "geneNCBI_id": 836,
      "geneSymbol": "CASP3",
      "hgvs": [
        "NM_001354783.1:c.*501T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341712.1:n.*501T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1142,
          "referenceAllele": "T",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001504",
      "geneNCBI_id": 836,
      "geneSymbol": "CASP3",
      "hgvs": [
        "NM_001354784.1:c.*501T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341713.1:n.*501T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522685"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1406,
          "referenceAllele": "T",
          "start": 1405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001504",
      "geneNCBI_id": 836,
      "geneSymbol": "CASP3",
      "hgvs": [
        "NM_004346.4:c.*337T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004337.2:n.*337T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666439",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000308394.9:c.*337T>G"
          },
          "RefSeq": {
            "hgvs": "NM_004346.4:c.*337T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000311032.4:n.*337T>G"
          },
          "RefSeq": {
            "hgvs": "NP_004337.2:n.*337T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1368,
          "referenceAllele": "T",
          "start": 1367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001504",
      "geneNCBI_id": 836,
      "geneSymbol": "CASP3",
      "hgvs": [
        "NM_001354777.2:c.*337T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341706.1:n.*337T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720571"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1235,
          "referenceAllele": "T",
          "start": 1234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001504",
      "geneNCBI_id": 836,
      "geneSymbol": "CASP3",
      "hgvs": [
        "NM_001354779.2:c.*337T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341708.1:n.*337T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720572"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1402,
          "referenceAllele": "T",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001504",
      "geneNCBI_id": 836,
      "geneSymbol": "CASP3",
      "hgvs": [
        "NM_001354780.2:c.*337T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341709.1:n.*337T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720573"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1118,
          "referenceAllele": "T",
          "start": 1117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001504",
      "geneNCBI_id": 836,
      "geneSymbol": "CASP3",
      "hgvs": [
        "NM_001354781.2:c.*501T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341710.1:n.*501T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720574"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1285,
          "referenceAllele": "T",
          "start": 1284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001504",
      "geneNCBI_id": 836,
      "geneSymbol": "CASP3",
      "hgvs": [
        "NM_001354782.2:c.*501T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341711.1:n.*501T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720575"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1477,
          "referenceAllele": "T",
          "start": 1476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001504",
      "geneNCBI_id": 836,
      "geneSymbol": "CASP3",
      "hgvs": [
        "NM_001354783.2:c.*501T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341712.1:n.*501T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720576"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1114,
          "referenceAllele": "T",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001504",
      "geneNCBI_id": 836,
      "geneSymbol": "CASP3",
      "hgvs": [
        "NM_001354784.2:c.*501T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341713.1:n.*501T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720577"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1239,
          "referenceAllele": "T",
          "start": 1238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001504",
      "geneNCBI_id": 836,
      "geneSymbol": "CASP3",
      "hgvs": [
        "NM_032991.3:c.*337T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_116786.1:n.*337T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728897"
    }
  ],
  "type": "nucleotide"
}