{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA250631",
  "communityStandardTitle": [
    "NM_001395463.1(PLA2G2A):c.144_145del (p.Cys48TrpfsTer20)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28674[alleleid]",
        "alleleId": 28674,
        "preferredName": "NM_001395463.1(PLA2G2A):c.144_145del (p.Cys48fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13635",
        "RCV": [
          "RCV000014605"
        ],
        "variationId": 13635
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-20304912-CCA-C",
        "id": "1-20304912-CCA-C",
        "variant": "1:20304912 CCA / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.20304913_20304914del?assembly=hg19",
        "id": "chr1:g.20304913_20304914del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.19978420_19978421del?assembly=hg38",
        "id": "chr1:g.19978420_19978421del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587776800",
        "rs": 587776800
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-20304912-CCA-C?dataset=gnomad_r2_1",
        "id": "1-20304912-CCA-C",
        "variant": "1:20304912 CCA / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-19978419-CCA-C?dataset=gnomad_r3",
        "id": "1-19978419-CCA-C",
        "variant": "1:19978419 CCA / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-19978419-CCA-C?dataset=gnomad_r4",
        "id": "1-19978419-CCA-C",
        "variant": "1:19978419 CCA / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 19978423,
          "referenceAllele": "CA",
          "start": 19978421
        }
      ],
      "hgvs": [
        "NC_000001.11:g.19978422_19978423del",
        "CM000663.2:g.19978422_19978423del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 20304916,
          "referenceAllele": "CA",
          "start": 20304914
        }
      ],
      "hgvs": [
        "NC_000001.10:g.20304915_20304916del",
        "CM000663.1:g.20304915_20304916del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 20177503,
          "referenceAllele": "CA",
          "start": 20177501
        }
      ],
      "hgvs": [
        "NC_000001.9:g.20177502_20177503del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7020,
          "referenceAllele": "TG",
          "start": 7018
        }
      ],
      "hgvs": [
        "NG_012928.1:g.7019_7020del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002625"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 290,
          "referenceAllele": "TG",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009031",
      "geneNCBI_id": 5320,
      "geneSymbol": "PLA2G2A",
      "hgvs": [
        "ENST00000482011.3:c.144_145del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504762.1:p.Cys48TrpfsTer20",
        "hgvsWellDefined": "ENSP00000504762.1:p.[Cys48_Gly52delinsTrp;Ser55_Asp61delinsTrpGln;Cys63_Asp68delinsIleProGlnGly;Cys70_Arg73delinsAsnGlySerLeu;Glu75_Gly78delinsCysHisSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905292",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000482011.3:c.144_145del"
          },
          "RefSeq": {
            "hgvs": "NM_001395463.1:c.144_145del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000504762.1:p.Cys48TrpfsTer20"
          },
          "RefSeq": {
            "hgvs": "NP_001382392.1:p.Cys48TrpfsTer20"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 311,
          "referenceAllele": "TG",
          "start": 309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009031",
      "geneNCBI_id": 5320,
      "geneSymbol": "PLA2G2A",
      "hgvs": [
        "ENST00000400520.8:c.144_145del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383364.3:p.Cys48TrpfsTer20",
        "hgvsWellDefined": "ENSP00000383364.3:p.[Cys48_Gly52delinsTrp;Ser55_Asp61delinsTrpGln;Cys63_Asp68delinsIleProGlnGly;Cys70_Arg73delinsAsnGlySerLeu;Glu75_Gly78delinsCysHisSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753926"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 290,
          "referenceAllele": "TG",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009031",
      "geneNCBI_id": 5320,
      "geneSymbol": "PLA2G2A",
      "hgvs": [
        "ENST00000482011.2:c.144_145del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504762.1:p.Cys48TrpfsTer20",
        "hgvsWellDefined": "ENSP00000504762.1:p.[Cys48_Gly52delinsTrp;Ser55_Asp61delinsTrpGln;Cys63_Asp68delinsIleProGlnGly;Cys70_Arg73delinsAsnGlySerLeu;Glu75_Gly78delinsCysHisSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757399"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 253,
          "referenceAllele": "TG",
          "start": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009031",
      "geneNCBI_id": 5320,
      "geneSymbol": "PLA2G2A",
      "hgvs": [
        "ENST00000649436.1:c.63_64del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496912.1:p.Cys21TrpfsTer20",
        "hgvsWellDefined": "ENSP00000496912.1:p.[Cys21_Gly25delinsTrp;Ser28_Asp34delinsTrpGln;Cys36_Asp41delinsIleProGlnGly;Cys43_Arg46delinsAsnGlySerLeu;Glu48_Gly51delinsCysHisSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770541"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 417,
          "referenceAllele": "TG",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009031",
      "geneNCBI_id": 5320,
      "geneSymbol": "PLA2G2A",
      "hgvs": [
        "ENST00000375111.7:c.144_145del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364252.3:p.Cys48TrpfsTer20",
        "hgvsWellDefined": "ENSP00000364252.3:p.[Cys48_Gly52delinsTrp;Ser55_Asp61delinsTrpGln;Cys63_Asp68delinsIleProGlnGly;Cys70_Arg73delinsAsnGlySerLeu;Glu75_Gly78delinsCysHisSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270567"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 415,
          "referenceAllele": "TG",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009031",
      "geneNCBI_id": 5320,
      "geneSymbol": "PLA2G2A",
      "hgvs": [
        "ENST00000400520.7:c.144_145del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383364.3:p.Cys48TrpfsTer20",
        "hgvsWellDefined": "ENSP00000383364.3:p.[Cys48_Gly52delinsTrp;Ser55_Asp61delinsTrpGln;Cys63_Asp68delinsIleProGlnGly;Cys70_Arg73delinsAsnGlySerLeu;Glu75_Gly78delinsCysHisSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279056"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 399,
          "referenceAllele": "TG",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009031",
      "geneNCBI_id": 5320,
      "geneSymbol": "PLA2G2A",
      "hgvs": [
        "ENST00000461140.1:n.398_399del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305729"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 311,
          "referenceAllele": "TG",
          "start": 309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009031",
      "geneNCBI_id": 5320,
      "geneSymbol": "PLA2G2A",
      "hgvs": [
        "ENST00000469162.5:n.310_311del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311914"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 417,
          "referenceAllele": "TG",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009031",
      "geneNCBI_id": 5320,
      "geneSymbol": "PLA2G2A",
      "hgvs": [
        "ENST00000482011.1:n.416_417del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321808"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 377,
          "referenceAllele": "TG",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009031",
      "geneNCBI_id": 5320,
      "geneSymbol": "PLA2G2A",
      "hgvs": [
        "ENST00000491964.5:n.376_377del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329455"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 495,
          "referenceAllele": "TG",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009031",
      "geneNCBI_id": 5320,
      "geneSymbol": "PLA2G2A",
      "hgvs": [
        "ENST00000496748.1:n.494_495del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333141"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 440,
          "referenceAllele": "TG",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009031",
      "geneNCBI_id": 5320,
      "geneSymbol": "PLA2G2A",
      "hgvs": [
        "NM_000300.3:c.144_145del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000291.1:p.Cys48TrpfsTer20",
        "hgvsWellDefined": "NP_000291.1:p.[Cys48_Gly52delinsTrp;Ser55_Asp61delinsTrpGln;Cys63_Asp68delinsIleProGlnGly;Cys70_Arg73delinsAsnGlySerLeu;Glu75_Gly78delinsCysHisSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006361"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 409,
          "referenceAllele": "TG",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009031",
      "geneNCBI_id": 5320,
      "geneSymbol": "PLA2G2A",
      "hgvs": [
        "NM_001161727.1:c.144_145del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155199.1:p.Cys48TrpfsTer20",
        "hgvsWellDefined": "NP_001155199.1:p.[Cys48_Gly52delinsTrp;Ser55_Asp61delinsTrpGln;Cys63_Asp68delinsIleProGlnGly;Cys70_Arg73delinsAsnGlySerLeu;Glu75_Gly78delinsCysHisSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014297"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 329,
          "referenceAllele": "TG",
          "start": 327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009031",
      "geneNCBI_id": 5320,
      "geneSymbol": "PLA2G2A",
      "hgvs": [
        "NM_001161728.1:c.144_145del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155200.1:p.Cys48TrpfsTer20",
        "hgvsWellDefined": "NP_001155200.1:p.[Cys48_Gly52delinsTrp;Ser55_Asp61delinsTrpGln;Cys63_Asp68delinsIleProGlnGly;Cys70_Arg73delinsAsnGlySerLeu;Glu75_Gly78delinsCysHisSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014298"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 363,
          "referenceAllele": "TG",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009031",
      "geneNCBI_id": 5320,
      "geneSymbol": "PLA2G2A",
      "hgvs": [
        "NM_001161729.1:c.144_145del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155201.1:p.Cys48TrpfsTer20",
        "hgvsWellDefined": "NP_001155201.1:p.[Cys48_Gly52delinsTrp;Ser55_Asp61delinsTrpGln;Cys63_Asp68delinsIleProGlnGly;Cys70_Arg73delinsAsnGlySerLeu;Glu75_Gly78delinsCysHisSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014299"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 435,
          "referenceAllele": "TG",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009031",
      "geneNCBI_id": 5320,
      "geneSymbol": "PLA2G2A",
      "hgvs": [
        "NM_000300.4:c.144_145del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000291.1:p.Cys48TrpfsTer20",
        "hgvsWellDefined": "NP_000291.1:p.[Cys48_Gly52delinsTrp;Ser55_Asp61delinsTrpGln;Cys63_Asp68delinsIleProGlnGly;Cys70_Arg73delinsAsnGlySerLeu;Glu75_Gly78delinsCysHisSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674778"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 404,
          "referenceAllele": "TG",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009031",
      "geneNCBI_id": 5320,
      "geneSymbol": "PLA2G2A",
      "hgvs": [
        "NM_001161727.2:c.144_145del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155199.1:p.Cys48TrpfsTer20",
        "hgvsWellDefined": "NP_001155199.1:p.[Cys48_Gly52delinsTrp;Ser55_Asp61delinsTrpGln;Cys63_Asp68delinsIleProGlnGly;Cys70_Arg73delinsAsnGlySerLeu;Glu75_Gly78delinsCysHisSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678209"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 324,
          "referenceAllele": "TG",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009031",
      "geneNCBI_id": 5320,
      "geneSymbol": "PLA2G2A",
      "hgvs": [
        "NM_001161728.2:c.144_145del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155200.1:p.Cys48TrpfsTer20",
        "hgvsWellDefined": "NP_001155200.1:p.[Cys48_Gly52delinsTrp;Ser55_Asp61delinsTrpGln;Cys63_Asp68delinsIleProGlnGly;Cys70_Arg73delinsAsnGlySerLeu;Glu75_Gly78delinsCysHisSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678210"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 290,
          "referenceAllele": "TG",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009031",
      "geneNCBI_id": 5320,
      "geneSymbol": "PLA2G2A",
      "hgvs": [
        "NM_001395463.1:c.144_145del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001382392.1:p.Cys48TrpfsTer20",
        "hgvsWellDefined": "NP_001382392.1:p.[Cys48_Gly52delinsTrp;Ser55_Asp61delinsTrpGln;Cys63_Asp68delinsIleProGlnGly;Cys70_Arg73delinsAsnGlySerLeu;Glu75_Gly78delinsCysHisSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782858",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000482011.3:c.144_145del"
          },
          "RefSeq": {
            "hgvs": "NM_001395463.1:c.144_145del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000504762.1:p.Cys48TrpfsTer20"
          },
          "RefSeq": {
            "hgvs": "NP_001382392.1:p.Cys48TrpfsTer20"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}