{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA339587",
  "communityStandardTitle": [
    "NM_024675.4(PALB2):c.1337A>T (p.Asp446Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=213176[alleleid]",
        "alleleId": 213176,
        "preferredName": "NM_024675.4(PALB2):c.1337A>T (p.Asp446Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/216742",
        "RCV": [
          "RCV000200861",
          "RCV000255070",
          "RCV000562823",
          "RCV000761148",
          "RCV001194137",
          "RCV002492922",
          "RCV004530198"
        ],
        "variationId": 216742
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-23646530-T-A",
        "id": "16-23646530-T-A",
        "variant": "16:23646530 T / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.23646530T>A?assembly=hg19",
        "id": "chr16:g.23646530T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.23635209T>A?assembly=hg38",
        "id": "chr16:g.23635209T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/146434474",
        "rs": 146434474
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-23646530-T-A?dataset=gnomad_r2_1",
        "id": "16-23646530-T-A",
        "variant": "16:23646530 T / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-23635209-T-A?dataset=gnomad_r3",
        "id": "16-23635209-T-A",
        "variant": "16:23635209 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-23635209-T-A?dataset=gnomad_r4",
        "id": "16-23635209-T-A",
        "variant": "16:23635209 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 23635209,
          "referenceAllele": "T",
          "start": 23635208
        }
      ],
      "hgvs": [
        "NC_000016.10:g.23635209T>A",
        "CM000678.2:g.23635209T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 23646530,
          "referenceAllele": "T",
          "start": 23646529
        }
      ],
      "hgvs": [
        "NC_000016.9:g.23646530T>A",
        "CM000678.1:g.23646530T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 23554031,
          "referenceAllele": "T",
          "start": 23554030
        }
      ],
      "hgvs": [
        "NC_000016.8:g.23554031T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11149,
          "referenceAllele": "A",
          "start": 11148
        }
      ],
      "hgvs": [
        "NG_007406.1:g.11149A>T",
        "LRG_308:g.11149A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000571"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2342,
          "referenceAllele": "A",
          "start": 2341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000561514.3:c.1343A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460666.3:p.Asp448Val",
        "hgvsWellDefined": "ENSP00000460666.3:p.Asp448Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914287"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 285,
          "endIntronDirection": "+",
          "endIntronOffset": 2641,
          "referenceAllele": "A",
          "start": 285,
          "startIntronDirection": "+",
          "startIntronOffset": 2640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000565038.2:c.211+2641A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459882.2:n.211+2641A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914301"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1476,
          "referenceAllele": "A",
          "start": 1475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000566069.6:c.1337A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459237.2:p.Asp446Val",
        "hgvsWellDefined": "ENSP00000459237.2:p.Asp446Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1736,
          "referenceAllele": "A",
          "start": 1735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697377.2:c.1343A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513286.2:p.Asp448Val",
        "hgvsWellDefined": "ENSP00000513286.2:p.Asp448Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914472"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1642,
          "referenceAllele": "A",
          "start": 1641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697379.2:c.1343A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513287.2:p.Asp448Val",
        "hgvsWellDefined": "ENSP00000513287.2:p.Asp448Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914473"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2342,
          "referenceAllele": "A",
          "start": 2341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000561514.2:c.452A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460666.2:p.Asp151Val",
        "hgvsWellDefined": "ENSP00000460666.2:p.Asp151Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905930"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1860,
          "referenceAllele": "A",
          "start": 1859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697374.1:c.452A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513284.1:p.Asp151Val",
        "hgvsWellDefined": "ENSP00000513284.1:p.Asp151Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2684,
          "referenceAllele": "A",
          "start": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697375.1:n.2684A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908745"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1639,
          "referenceAllele": "A",
          "start": 1638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697376.1:c.452A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513285.1:p.Asp151Val",
        "hgvsWellDefined": "ENSP00000513285.1:p.Asp151Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908746"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1736,
          "referenceAllele": "A",
          "start": 1735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697377.1:c.452A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513286.1:p.Asp151Val",
        "hgvsWellDefined": "ENSP00000513286.1:p.Asp151Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1857,
          "referenceAllele": "A",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697378.1:n.1857A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908748"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1642,
          "referenceAllele": "A",
          "start": 1641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697379.1:c.452A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513287.1:p.Asp151Val",
        "hgvsWellDefined": "ENSP00000513287.1:p.Asp151Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2365,
          "referenceAllele": "A",
          "start": 2364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697382.1:c.452A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513288.1:p.Asp151Val",
        "hgvsWellDefined": "ENSP00000513288.1:p.Asp151Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908752"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 212,
          "endIntronDirection": "+",
          "endIntronOffset": 5901,
          "referenceAllele": "A",
          "start": 212,
          "startIntronDirection": "+",
          "startIntronOffset": 5900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697383.1:c.48+5901A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513289.1:n.48+5901A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908753"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1491,
          "referenceAllele": "A",
          "start": 1490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697384.1:n.1491A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908754"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1490,
          "referenceAllele": "A",
          "start": 1489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000261584.9:c.1337A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261584.4:p.Asp446Val",
        "hgvsWellDefined": "ENSP00000261584.4:p.Asp446Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742164",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261584.9:c.1337A>T"
          },
          "RefSeq": {
            "hgvs": "NM_024675.4:c.1337A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261584.4:p.Asp446Val"
          },
          "RefSeq": {
            "hgvs": "NP_078951.2:p.Asp446Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1490,
          "referenceAllele": "A",
          "start": 1489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000261584.8:c.1337A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261584.4:p.Asp446Val",
        "hgvsWellDefined": "ENSP00000261584.4:p.Asp446Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250784"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 86,
          "endIntronDirection": "+",
          "endIntronOffset": 2641,
          "referenceAllele": "A",
          "start": 86,
          "startIntronDirection": "+",
          "startIntronOffset": 2640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000565038.1:c.86+2641A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378503"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1448,
          "referenceAllele": "A",
          "start": 1447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000568219.5:c.452A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454703.2:p.Asp151Val",
        "hgvsWellDefined": "ENSP00000454703.2:p.Asp151Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380628"
    },
    {
      "@id": "http://reg.genome.network/allele/PA339589",
      "coordinates": [
        {
          "allele": "T",
          "end": 1537,
          "referenceAllele": "A",
          "start": 1536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "NM_024675.3:c.1337A>T",
        "LRG_308t1:c.1337A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078951.2:p.Asp446Val",
        "hgvsWellDefined": "NP_078951.2:p.Asp446Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037924"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2132,
          "referenceAllele": "A",
          "start": 2131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545946.1:c.1343A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544248.1:p.Asp448Val",
        "hgvsWellDefined": "XP_011544248.1:p.Asp448Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112826"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2133,
          "referenceAllele": "A",
          "start": 2132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545947.1:c.1343A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544249.1:p.Asp448Val",
        "hgvsWellDefined": "XP_011544249.1:p.Asp448Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112827"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1593,
          "referenceAllele": "A",
          "start": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545948.1:c.452A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544250.1:p.Asp151Val",
        "hgvsWellDefined": "XP_011544250.1:p.Asp151Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2133,
          "referenceAllele": "A",
          "start": 2132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XR_950851.1:n.2133A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143781"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2342,
          "referenceAllele": "A",
          "start": 2341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545946.2:c.1343A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544248.1:p.Asp448Val",
        "hgvsWellDefined": "XP_011544248.1:p.Asp448Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556315"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2307,
          "referenceAllele": "A",
          "start": 2306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545947.2:c.1343A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544249.1:p.Asp448Val",
        "hgvsWellDefined": "XP_011544249.1:p.Asp448Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556316"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1629,
          "referenceAllele": "A",
          "start": 1628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545948.2:c.452A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544250.1:p.Asp151Val",
        "hgvsWellDefined": "XP_011544250.1:p.Asp151Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2307,
          "referenceAllele": "A",
          "start": 2306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_017023671.1:c.1343A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879160.1:p.Asp448Val",
        "hgvsWellDefined": "XP_016879160.1:p.Asp448Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574393"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1517,
          "referenceAllele": "A",
          "start": 1516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_017023672.2:c.1337A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879161.1:p.Asp446Val",
        "hgvsWellDefined": "XP_016879161.1:p.Asp446Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574394"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1517,
          "referenceAllele": "A",
          "start": 1516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_017023673.2:c.1337A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879162.1:p.Asp446Val",
        "hgvsWellDefined": "XP_016879162.1:p.Asp446Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA339589",
      "coordinates": [
        {
          "allele": "T",
          "end": 1490,
          "referenceAllele": "A",
          "start": 1489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "NM_024675.4:c.1337A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078951.2:p.Asp446Val",
        "hgvsWellDefined": "NP_078951.2:p.Asp446Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698739",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261584.9:c.1337A>T"
          },
          "RefSeq": {
            "hgvs": "NM_024675.4:c.1337A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261584.4:p.Asp446Val"
          },
          "RefSeq": {
            "hgvs": "NP_078951.2:p.Asp446Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}