{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3252639022",
  "communityStandardTitle": [
    "NM_024675.4(PALB2):c.137_139del (p.His46_Ser47delinsPro)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 23637924,
          "referenceAllele": "AAT",
          "start": 23637921
        }
      ],
      "hgvs": [
        "NC_000016.10:g.23637922_23637924del",
        "CM000678.2:g.23637922_23637924del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 23649245,
          "referenceAllele": "AAT",
          "start": 23649242
        }
      ],
      "hgvs": [
        "NC_000016.9:g.23649243_23649245del",
        "CM000678.1:g.23649243_23649245del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 23556746,
          "referenceAllele": "AAT",
          "start": 23556743
        }
      ],
      "hgvs": [
        "NC_000016.8:g.23556744_23556746del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 8436,
          "referenceAllele": "ATT",
          "start": 8433
        }
      ],
      "hgvs": [
        "NG_007406.1:g.8434_8436del",
        "LRG_308:g.8434_8436del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000571"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1144,
          "referenceAllele": "ATT",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000561514.3:c.143_145del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460666.3:p.His48_Ser49delinsPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914287"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 213,
          "referenceAllele": "ATT",
          "start": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000565038.2:c.137_139del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459882.2:p.His46_Ser47delinsPro",
        "hgvsWellDefined": "ENSP00000459882.2:p.His46_Ser47delinsPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914301"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 278,
          "referenceAllele": "ATT",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000566069.6:c.137_139del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459237.2:p.His46_Ser47delinsPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914305"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 538,
          "referenceAllele": "ATT",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697377.2:c.143_145del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513286.2:p.His48_Ser49delinsPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914472"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 444,
          "referenceAllele": "ATT",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697379.2:c.143_145del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513287.2:p.His48_Ser49delinsPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914473"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1144,
          "referenceAllele": "ATT",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000561514.2:c.-749_-747del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460666.2:n.-749_-747del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905930"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 662,
          "referenceAllele": "ATT",
          "start": 659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697374.1:c.-749_-747del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513284.1:n.-749_-747del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908744"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1486,
          "referenceAllele": "ATT",
          "start": 1483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697375.1:n.1484_1486del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908745"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 441,
          "referenceAllele": "ATT",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697376.1:c.-749_-747del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513285.1:n.-749_-747del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908746"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 538,
          "referenceAllele": "ATT",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697377.1:c.-749_-747del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513286.1:n.-749_-747del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908747"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 659,
          "referenceAllele": "ATT",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697378.1:n.657_659del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908748"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 444,
          "referenceAllele": "ATT",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697379.1:c.-749_-747del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513287.1:n.-749_-747del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908749"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1167,
          "referenceAllele": "ATT",
          "start": 1164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697382.1:c.-749_-747del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513288.1:n.-749_-747del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908752"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 212,
          "endIntronDirection": "+",
          "endIntronOffset": 3188,
          "referenceAllele": "ATT",
          "start": 212,
          "startIntronDirection": "+",
          "startIntronOffset": 3185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697383.1:c.48+3186_48+3188del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513289.1:n.48+3186_48+3188del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908753"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 293,
          "referenceAllele": "ATT",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697384.1:n.291_293del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908754"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 292,
          "referenceAllele": "ATT",
          "start": 289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000261584.9:c.137_139del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261584.4:p.His46_Ser47delinsPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742164",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261584.9:c.137_139del"
          },
          "RefSeq": {
            "hgvs": "NM_024675.4:c.137_139del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261584.4:p.His46_Ser47delinsPro"
          },
          "RefSeq": {
            "hgvs": "NP_078951.2:p.His46_Ser47delinsPro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 292,
          "referenceAllele": "ATT",
          "start": 289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000261584.8:c.137_139del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261584.4:p.His46_Ser47delinsPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250784"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 691,
          "referenceAllele": "ATT",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000561514.1:c.143_145del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460666.1:p.His48_Ser49delinsPro",
        "hgvsWellDefined": "ENSP00000460666.1:p.His48_Ser49delinsPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS376169"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 14,
          "referenceAllele": "ATT",
          "start": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000565038.1:c.12_14del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378503"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 417,
          "referenceAllele": "ATT",
          "start": 414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000567003.1:n.415_417del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379820"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 250,
          "referenceAllele": "ATT",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000568219.5:c.-749_-747del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454703.2:n.-749_-747del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380628"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 339,
          "referenceAllele": "ATT",
          "start": 336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "NM_024675.3:c.137_139del",
        "LRG_308t1:c.137_139del"
      ],
      "proteinEffect": {
        "hgvs": "NP_078951.2:p.His46_Ser47delinsPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037924"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 934,
          "referenceAllele": "ATT",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545946.1:c.143_145del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544248.1:p.His48_Ser49delinsPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112826"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 935,
          "referenceAllele": "ATT",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545947.1:c.143_145del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544249.1:p.His48_Ser49delinsPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112827"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 395,
          "referenceAllele": "ATT",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545948.1:c.-749_-747del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544250.1:n.-749_-747del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112828"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 935,
          "referenceAllele": "ATT",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XR_950851.1:n.933_935del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143781"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1144,
          "referenceAllele": "ATT",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545946.2:c.143_145del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544248.1:p.His48_Ser49delinsPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556315"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1109,
          "referenceAllele": "ATT",
          "start": 1106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545947.2:c.143_145del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544249.1:p.His48_Ser49delinsPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556316"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 431,
          "referenceAllele": "ATT",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545948.2:c.-749_-747del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544250.1:n.-749_-747del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556317"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1109,
          "referenceAllele": "ATT",
          "start": 1106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_017023671.1:c.143_145del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879160.1:p.His48_Ser49delinsPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574393"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 319,
          "referenceAllele": "ATT",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_017023672.2:c.137_139del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879161.1:p.His46_Ser47delinsPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574394"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 319,
          "referenceAllele": "ATT",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_017023673.2:c.137_139del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879162.1:p.His46_Ser47delinsPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574395"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 292,
          "referenceAllele": "ATT",
          "start": 289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "NM_024675.4:c.137_139del"
      ],
      "proteinEffect": {
        "hgvs": "NP_078951.2:p.His46_Ser47delinsPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698739",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261584.9:c.137_139del"
          },
          "RefSeq": {
            "hgvs": "NM_024675.4:c.137_139del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261584.4:p.His46_Ser47delinsPro"
          },
          "RefSeq": {
            "hgvs": "NP_078951.2:p.His46_Ser47delinsPro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}