{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2213433923",
  "communityStandardTitle": [
    "NM_024675.4(PALB2):c.147_150delinsGAAA (p.Lys49=)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "TTTC",
          "end": 23637914,
          "referenceAllele": "TTTC",
          "start": 23637910
        }
      ],
      "hgvs": [
        "NC_000016.10:g.23637911_23637914delinsTTTC",
        "CM000678.2:g.23637911_23637914delinsTTTC"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "TTTC",
          "end": 23649235,
          "referenceAllele": "TTTC",
          "start": 23649231
        }
      ],
      "hgvs": [
        "NC_000016.9:g.23649232_23649235delinsTTTC",
        "CM000678.1:g.23649232_23649235delinsTTTC"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "TTTC",
          "end": 23556736,
          "referenceAllele": "TTTC",
          "start": 23556732
        }
      ],
      "hgvs": [
        "NC_000016.8:g.23556733_23556736delinsTTTC"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "GAAA",
          "end": 8447,
          "referenceAllele": "GAAA",
          "start": 8443
        }
      ],
      "hgvs": [
        "NG_007406.1:g.8444_8447delinsGAAA",
        "LRG_308:g.8444_8447delinsGAAA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000571"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "GAAA",
          "end": 1155,
          "referenceAllele": "GAAA",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000561514.3:c.153_156delinsGAAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460666.3:p.Lys51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914287"
    },
    {
      "coordinates": [
        {
          "allele": "GAAA",
          "end": 224,
          "referenceAllele": "GAAA",
          "start": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000565038.2:c.147_150delinsGAAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459882.2:p.Lys49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914301"
    },
    {
      "coordinates": [
        {
          "allele": "GAAA",
          "end": 289,
          "referenceAllele": "GAAA",
          "start": 285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000566069.6:c.147_150delinsGAAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459237.2:p.Lys49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914305"
    },
    {
      "coordinates": [
        {
          "allele": "GAAA",
          "end": 549,
          "referenceAllele": "GAAA",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697377.2:c.153_156delinsGAAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513286.2:p.Lys51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914472"
    },
    {
      "coordinates": [
        {
          "allele": "GAAA",
          "end": 455,
          "referenceAllele": "GAAA",
          "start": 451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697379.2:c.153_156delinsGAAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513287.2:p.Lys51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914473"
    },
    {
      "coordinates": [
        {
          "allele": "GAAA",
          "end": 1155,
          "referenceAllele": "GAAA",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000561514.2:c.-739_-736delinsGAAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460666.2:n.-739_-736delinsGAAA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905930"
    },
    {
      "coordinates": [
        {
          "allele": "GAAA",
          "end": 673,
          "referenceAllele": "GAAA",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697374.1:c.-739_-736delinsGAAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513284.1:n.-739_-736delinsGAAA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908744"
    },
    {
      "coordinates": [
        {
          "allele": "GAAA",
          "end": 1497,
          "referenceAllele": "GAAA",
          "start": 1493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697375.1:n.1494_1497delinsGAAA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908745"
    },
    {
      "coordinates": [
        {
          "allele": "GAAA",
          "end": 452,
          "referenceAllele": "GAAA",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697376.1:c.-739_-736delinsGAAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513285.1:n.-739_-736delinsGAAA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908746"
    },
    {
      "coordinates": [
        {
          "allele": "GAAA",
          "end": 549,
          "referenceAllele": "GAAA",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697377.1:c.-739_-736delinsGAAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513286.1:n.-739_-736delinsGAAA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908747"
    },
    {
      "coordinates": [
        {
          "allele": "GAAA",
          "end": 670,
          "referenceAllele": "GAAA",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697378.1:n.667_670delinsGAAA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908748"
    },
    {
      "coordinates": [
        {
          "allele": "GAAA",
          "end": 455,
          "referenceAllele": "GAAA",
          "start": 451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697379.1:c.-739_-736delinsGAAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513287.1:n.-739_-736delinsGAAA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908749"
    },
    {
      "coordinates": [
        {
          "allele": "GAAA",
          "end": 1178,
          "referenceAllele": "GAAA",
          "start": 1174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697382.1:c.-739_-736delinsGAAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513288.1:n.-739_-736delinsGAAA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908752"
    },
    {
      "coordinates": [
        {
          "allele": "GAAA",
          "end": 212,
          "endIntronDirection": "+",
          "endIntronOffset": 3199,
          "referenceAllele": "GAAA",
          "start": 212,
          "startIntronDirection": "+",
          "startIntronOffset": 3195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697383.1:c.48+3196_48+3199delinsGAAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513289.1:n.48+3196_48+3199delinsGAAA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908753"
    },
    {
      "coordinates": [
        {
          "allele": "GAAA",
          "end": 304,
          "referenceAllele": "GAAA",
          "start": 300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697384.1:n.301_304delinsGAAA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908754"
    },
    {
      "coordinates": [
        {
          "allele": "GAAA",
          "end": 303,
          "referenceAllele": "GAAA",
          "start": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000261584.9:c.147_150delinsGAAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261584.4:p.Lys49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742164",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261584.9:c.147_150delinsGAAA"
          },
          "RefSeq": {
            "hgvs": "NM_024675.4:c.147_150delinsGAAA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261584.4:p.Lys49="
          },
          "RefSeq": {
            "hgvs": "NP_078951.2:p.Lys49="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GAAA",
          "end": 303,
          "referenceAllele": "GAAA",
          "start": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000261584.8:c.147_150delinsGAAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261584.4:p.Lys49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250784"
    },
    {
      "coordinates": [
        {
          "allele": "GAAA",
          "end": 702,
          "referenceAllele": "GAAA",
          "start": 698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000561514.1:c.153_156delinsGAAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460666.1:p.Lys51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS376169"
    },
    {
      "coordinates": [
        {
          "allele": "GAAA",
          "end": 25,
          "referenceAllele": "GAAA",
          "start": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000565038.1:c.22_25delinsGAAA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378503"
    },
    {
      "coordinates": [
        {
          "allele": "GAAA",
          "end": 428,
          "referenceAllele": "GAAA",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000567003.1:n.425_428delinsGAAA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379820"
    },
    {
      "coordinates": [
        {
          "allele": "GAAA",
          "end": 261,
          "referenceAllele": "GAAA",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000568219.5:c.-739_-736delinsGAAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454703.2:n.-739_-736delinsGAAA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380628"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083704676",
      "coordinates": [
        {
          "allele": "GAAA",
          "end": 350,
          "referenceAllele": "GAAA",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "NM_024675.3:c.147_150delinsGAAA",
        "LRG_308t1:c.147_150delinsGAAA"
      ],
      "proteinEffect": {
        "hgvs": "NP_078951.2:p.Lys49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037924"
    },
    {
      "coordinates": [
        {
          "allele": "GAAA",
          "end": 945,
          "referenceAllele": "GAAA",
          "start": 941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545946.1:c.153_156delinsGAAA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544248.1:p.Lys51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112826"
    },
    {
      "coordinates": [
        {
          "allele": "GAAA",
          "end": 946,
          "referenceAllele": "GAAA",
          "start": 942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545947.1:c.153_156delinsGAAA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544249.1:p.Lys51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112827"
    },
    {
      "coordinates": [
        {
          "allele": "GAAA",
          "end": 406,
          "referenceAllele": "GAAA",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545948.1:c.-739_-736delinsGAAA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544250.1:n.-739_-736delinsGAAA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112828"
    },
    {
      "coordinates": [
        {
          "allele": "GAAA",
          "end": 946,
          "referenceAllele": "GAAA",
          "start": 942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XR_950851.1:n.943_946delinsGAAA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143781"
    },
    {
      "coordinates": [
        {
          "allele": "GAAA",
          "end": 1155,
          "referenceAllele": "GAAA",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545946.2:c.153_156delinsGAAA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544248.1:p.Lys51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556315"
    },
    {
      "coordinates": [
        {
          "allele": "GAAA",
          "end": 1120,
          "referenceAllele": "GAAA",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545947.2:c.153_156delinsGAAA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544249.1:p.Lys51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556316"
    },
    {
      "coordinates": [
        {
          "allele": "GAAA",
          "end": 442,
          "referenceAllele": "GAAA",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545948.2:c.-739_-736delinsGAAA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544250.1:n.-739_-736delinsGAAA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556317"
    },
    {
      "coordinates": [
        {
          "allele": "GAAA",
          "end": 1120,
          "referenceAllele": "GAAA",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_017023671.1:c.153_156delinsGAAA"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879160.1:p.Lys51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574393"
    },
    {
      "coordinates": [
        {
          "allele": "GAAA",
          "end": 330,
          "referenceAllele": "GAAA",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_017023672.2:c.147_150delinsGAAA"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879161.1:p.Lys49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574394"
    },
    {
      "coordinates": [
        {
          "allele": "GAAA",
          "end": 330,
          "referenceAllele": "GAAA",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_017023673.2:c.147_150delinsGAAA"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879162.1:p.Lys49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083704676",
      "coordinates": [
        {
          "allele": "GAAA",
          "end": 303,
          "referenceAllele": "GAAA",
          "start": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "NM_024675.4:c.147_150delinsGAAA"
      ],
      "proteinEffect": {
        "hgvs": "NP_078951.2:p.Lys49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698739",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261584.9:c.147_150delinsGAAA"
          },
          "RefSeq": {
            "hgvs": "NM_024675.4:c.147_150delinsGAAA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261584.4:p.Lys49="
          },
          "RefSeq": {
            "hgvs": "NP_078951.2:p.Lys49="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}