{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA151229",
  "communityStandardTitle": [
    "NM_024675.4(PALB2):c.172_175del (p.Gln60ArgfsTer7)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=132133[alleleid]",
        "alleleId": 132133,
        "preferredName": "NM_024675.4(PALB2):c.172_175del (p.Gln60fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/126623",
        "RCV": [
          "RCV000114496",
          "RCV000114497",
          "RCV000116073",
          "RCV000212770",
          "RCV001781441",
          "RCV001270993",
          "RCV001193414",
          "RCV001543616",
          "RCV002490763"
        ],
        "variationId": 126623
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-23649206-GACAA-G",
        "id": "16-23649206-GACAA-G",
        "variant": "16:23649206 GACAA / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.23649207_23649210del?assembly=hg19",
        "id": "chr16:g.23649207_23649210del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.23637886_23637889del?assembly=hg38",
        "id": "chr16:g.23637886_23637889del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/180177143",
        "rs": 180177143
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-23649206-GACAA-G?dataset=gnomad_r2_1",
        "id": "16-23649206-GACAA-G",
        "variant": "16:23649206 GACAA / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-23637885-GACAA-G?dataset=gnomad_r3",
        "id": "16-23637885-GACAA-G",
        "variant": "16:23637885 GACAA / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-23637885-GACAA-G?dataset=gnomad_r4",
        "id": "16-23637885-GACAA-G",
        "variant": "16:23637885 GACAA / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 23637893,
          "referenceAllele": "ACAA",
          "start": 23637889
        }
      ],
      "hgvs": [
        "NC_000016.10:g.23637890_23637893del",
        "CM000678.2:g.23637890_23637893del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 23649214,
          "referenceAllele": "ACAA",
          "start": 23649210
        }
      ],
      "hgvs": [
        "NC_000016.9:g.23649211_23649214del",
        "CM000678.1:g.23649211_23649214del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 23556715,
          "referenceAllele": "ACAA",
          "start": 23556711
        }
      ],
      "hgvs": [
        "NC_000016.8:g.23556712_23556715del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 8472,
          "referenceAllele": "TTGT",
          "start": 8468
        }
      ],
      "hgvs": [
        "NG_007406.1:g.8469_8472del",
        "LRG_308:g.8469_8472del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000571"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1180,
          "referenceAllele": "TTGT",
          "start": 1176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000561514.3:c.178_181del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460666.3:p.Gln62ArgfsTer7"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914287"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 249,
          "referenceAllele": "TTGT",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000565038.2:c.172_175del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459882.2:p.Gln60ArgfsTer7",
        "hgvsWellDefined": "ENSP00000459882.2:p.[Gln60_Leu63delinsArgIle;Pro65_His69delinsHisArg;Asp71Ter]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914301"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 314,
          "referenceAllele": "TTGT",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000566069.6:c.172_175del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459237.2:p.Gln60ArgfsTer7"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914305"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 574,
          "referenceAllele": "TTGT",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697377.2:c.178_181del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513286.2:p.Gln62ArgfsTer7"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914472"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 480,
          "referenceAllele": "TTGT",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697379.2:c.178_181del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513287.2:p.Gln62ArgfsTer7"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914473"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1180,
          "referenceAllele": "TTGT",
          "start": 1176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000561514.2:c.-714_-711del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460666.2:n.-714_-711del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905930"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 698,
          "referenceAllele": "TTGT",
          "start": 694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697374.1:c.-714_-711del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513284.1:n.-714_-711del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908744"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1522,
          "referenceAllele": "TTGT",
          "start": 1518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697375.1:n.1519_1522del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908745"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 477,
          "referenceAllele": "TTGT",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697376.1:c.-714_-711del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513285.1:n.-714_-711del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908746"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 574,
          "referenceAllele": "TTGT",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697377.1:c.-714_-711del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513286.1:n.-714_-711del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908747"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 695,
          "referenceAllele": "TTGT",
          "start": 691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697378.1:n.692_695del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908748"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 480,
          "referenceAllele": "TTGT",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697379.1:c.-714_-711del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513287.1:n.-714_-711del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908749"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1203,
          "referenceAllele": "TTGT",
          "start": 1199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697382.1:c.-714_-711del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513288.1:n.-714_-711del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908752"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 212,
          "endIntronDirection": "+",
          "endIntronOffset": 3224,
          "referenceAllele": "TTGT",
          "start": 212,
          "startIntronDirection": "+",
          "startIntronOffset": 3220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697383.1:c.48+3221_48+3224del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513289.1:n.48+3221_48+3224del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908753"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 329,
          "referenceAllele": "TTGT",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697384.1:n.326_329del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908754"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 328,
          "referenceAllele": "TTGT",
          "start": 324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000261584.9:c.172_175del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261584.4:p.Gln60ArgfsTer7"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742164",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261584.9:c.172_175del"
          },
          "RefSeq": {
            "hgvs": "NM_024675.4:c.172_175del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261584.4:p.Gln60ArgfsTer7"
          },
          "RefSeq": {
            "hgvs": "NP_078951.2:p.Gln60ArgfsTer7"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 328,
          "referenceAllele": "TTGT",
          "start": 324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000261584.8:c.172_175del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261584.4:p.Gln60ArgfsTer7"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250784"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 727,
          "referenceAllele": "TTGT",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000561514.1:c.178_181del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460666.1:p.Gln62ArgfsTer7",
        "hgvsWellDefined": "ENSP00000460666.1:p.[Gln62_Leu65delinsArgIle;Pro67_His71delinsHisArg;Glu73Ter]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS376169"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 50,
          "referenceAllele": "TTGT",
          "start": 46
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000565038.1:c.47_50del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378503"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 453,
          "referenceAllele": "TTGT",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000567003.1:n.450_453del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379820"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 286,
          "referenceAllele": "TTGT",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000568219.5:c.-714_-711del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454703.2:n.-714_-711del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380628"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 375,
          "referenceAllele": "TTGT",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "NM_024675.3:c.172_175del",
        "LRG_308t1:c.172_175del"
      ],
      "proteinEffect": {
        "hgvs": "NP_078951.2:p.Gln60ArgfsTer7"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037924"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 970,
          "referenceAllele": "TTGT",
          "start": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545946.1:c.178_181del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544248.1:p.Gln62ArgfsTer7"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112826"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 971,
          "referenceAllele": "TTGT",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545947.1:c.178_181del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544249.1:p.Gln62ArgfsTer7"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112827"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 431,
          "referenceAllele": "TTGT",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545948.1:c.-714_-711del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544250.1:n.-714_-711del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112828"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 971,
          "referenceAllele": "TTGT",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XR_950851.1:n.968_971del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143781"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1180,
          "referenceAllele": "TTGT",
          "start": 1176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545946.2:c.178_181del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544248.1:p.Gln62ArgfsTer7"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556315"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1145,
          "referenceAllele": "TTGT",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545947.2:c.178_181del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544249.1:p.Gln62ArgfsTer7"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556316"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 467,
          "referenceAllele": "TTGT",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545948.2:c.-714_-711del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544250.1:n.-714_-711del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556317"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1145,
          "referenceAllele": "TTGT",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_017023671.1:c.178_181del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879160.1:p.Gln62ArgfsTer7"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574393"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 355,
          "referenceAllele": "TTGT",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_017023672.2:c.172_175del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879161.1:p.Gln60ArgfsTer7"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574394"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 355,
          "referenceAllele": "TTGT",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_017023673.2:c.172_175del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879162.1:p.Gln60ArgfsTer7"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574395"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 328,
          "referenceAllele": "TTGT",
          "start": 324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "NM_024675.4:c.172_175del"
      ],
      "proteinEffect": {
        "hgvs": "NP_078951.2:p.Gln60ArgfsTer7"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698739",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261584.9:c.172_175del"
          },
          "RefSeq": {
            "hgvs": "NM_024675.4:c.172_175del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261584.4:p.Gln60ArgfsTer7"
          },
          "RefSeq": {
            "hgvs": "NP_078951.2:p.Gln60ArgfsTer7"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}