{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6422051",
  "communityStandardTitle": [
    "NM_002831.6(PTPN6):c.1674-110G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=738855[alleleid]",
        "alleleId": 738855,
        "preferredName": "NM_002831.6(PTPN6):c.1674-110G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/725610",
        "RCV": [
          "RCV000899701"
        ],
        "variationId": 725610
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-7069859-G-A",
        "id": "12-7069859-G-A",
        "variant": "12:7069859 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.7069859G>A?assembly=hg19",
        "id": "chr12:g.7069859G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.6960696G>A?assembly=hg38",
        "id": "chr12:g.6960696G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/111262295",
        "rs": 111262295
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-7069859-G-A?dataset=gnomad_r2_1",
        "id": "12-7069859-G-A",
        "variant": "12:7069859 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-6960696-G-A?dataset=gnomad_r3",
        "id": "12-6960696-G-A",
        "variant": "12:6960696 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-6960696-G-A?dataset=gnomad_r4",
        "id": "12-6960696-G-A",
        "variant": "12:6960696 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 6960696,
          "referenceAllele": "G",
          "start": 6960695
        }
      ],
      "hgvs": [
        "NC_000012.12:g.6960696G>A",
        "CM000674.2:g.6960696G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 7069859,
          "referenceAllele": "G",
          "start": 7069858
        }
      ],
      "hgvs": [
        "NC_000012.11:g.7069859G>A",
        "CM000674.1:g.7069859G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 6940120,
          "referenceAllele": "G",
          "start": 6940119
        }
      ],
      "hgvs": [
        "NC_000012.10:g.6940120G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1830,
          "endIntronDirection": "-",
          "endIntronOffset": 109,
          "referenceAllele": "G",
          "start": 1830,
          "startIntronDirection": "-",
          "startIntronOffset": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009658",
      "geneNCBI_id": 5777,
      "geneSymbol": "PTPN6",
      "hgvs": [
        "ENST00000318974.14:c.1674-110G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326010.9:n.1674-110G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746254",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318974.14:c.1674-110G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002831.6:c.1674-110G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326010.9:n.1674-110G>A"
          },
          "RefSeq": {
            "hgvs": "NP_002822.2:n.1674-110G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1917,
          "endIntronDirection": "-",
          "endIntronOffset": 109,
          "referenceAllele": "G",
          "start": 1917,
          "startIntronDirection": "-",
          "startIntronOffset": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009658",
      "geneNCBI_id": 5777,
      "geneSymbol": "PTPN6",
      "hgvs": [
        "ENST00000318974.13:c.1674-110G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326010.9:n.1674-110G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257597"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1828,
          "endIntronDirection": "-",
          "endIntronOffset": 109,
          "referenceAllele": "G",
          "start": 1828,
          "startIntronDirection": "-",
          "startIntronOffset": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009658",
      "geneNCBI_id": 5777,
      "geneSymbol": "PTPN6",
      "hgvs": [
        "ENST00000399448.5:c.1680-110G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382376.1:n.1680-110G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2081,
          "endIntronDirection": "-",
          "endIntronOffset": 109,
          "referenceAllele": "G",
          "start": 2081,
          "startIntronDirection": "-",
          "startIntronOffset": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009658",
      "geneNCBI_id": 5777,
      "geneSymbol": "PTPN6",
      "hgvs": [
        "ENST00000416215.6:n.2082-110G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS284367"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1949,
          "referenceAllele": "G",
          "start": 1948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009658",
      "geneNCBI_id": 5777,
      "geneSymbol": "PTPN6",
      "hgvs": [
        "ENST00000456013.5:c.1707G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391592.1:p.Ala569="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303300"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 342,
          "endIntronDirection": "-",
          "endIntronOffset": 109,
          "referenceAllele": "G",
          "start": 342,
          "startIntronDirection": "-",
          "startIntronOffset": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009658",
      "geneNCBI_id": 5777,
      "geneSymbol": "PTPN6",
      "hgvs": [
        "ENST00000537533.1:n.343-110G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360824"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 374,
          "endIntronDirection": "-",
          "endIntronOffset": 109,
          "referenceAllele": "G",
          "start": 374,
          "startIntronDirection": "-",
          "startIntronOffset": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009658",
      "geneNCBI_id": 5777,
      "geneSymbol": "PTPN6",
      "hgvs": [
        "ENST00000539029.5:n.375-110G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361637"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1915,
          "endIntronDirection": "-",
          "endIntronOffset": 109,
          "referenceAllele": "G",
          "start": 1915,
          "startIntronDirection": "-",
          "startIntronOffset": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009658",
      "geneNCBI_id": 5777,
      "geneSymbol": "PTPN6",
      "hgvs": [
        "NM_002831.5:c.1674-110G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002822.2:n.1674-110G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028117"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1828,
          "endIntronDirection": "-",
          "endIntronOffset": 109,
          "referenceAllele": "G",
          "start": 1828,
          "startIntronDirection": "-",
          "startIntronOffset": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009658",
      "geneNCBI_id": 5777,
      "geneSymbol": "PTPN6",
      "hgvs": [
        "NM_080548.4:c.1680-110G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_536858.1:n.1680-110G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040168"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830157033",
      "coordinates": [
        {
          "allele": "A",
          "end": 1949,
          "referenceAllele": "G",
          "start": 1948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009658",
      "geneNCBI_id": 5777,
      "geneSymbol": "PTPN6",
      "hgvs": [
        "NM_080549.3:c.1707G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_536859.1:p.Ala569="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1972,
          "endIntronDirection": "-",
          "endIntronOffset": 109,
          "referenceAllele": "G",
          "start": 1972,
          "startIntronDirection": "-",
          "startIntronOffset": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009658",
      "geneNCBI_id": 5777,
      "geneSymbol": "PTPN6",
      "hgvs": [
        "XM_006718994.1:c.1332-110G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719057.1:n.1332-110G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1829,
          "endIntronDirection": "-",
          "endIntronOffset": 109,
          "referenceAllele": "G",
          "start": 1829,
          "startIntronDirection": "-",
          "startIntronOffset": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009658",
      "geneNCBI_id": 5777,
      "geneSymbol": "PTPN6",
      "hgvs": [
        "XM_011520988.1:c.1680-110G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519290.1:n.1680-110G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088152"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1712,
          "endIntronDirection": "-",
          "endIntronOffset": 109,
          "referenceAllele": "G",
          "start": 1712,
          "startIntronDirection": "-",
          "startIntronOffset": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009658",
      "geneNCBI_id": 5777,
      "geneSymbol": "PTPN6",
      "hgvs": [
        "XM_011520989.1:c.1563-110G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519291.1:n.1563-110G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088153"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1674,
          "endIntronDirection": "-",
          "endIntronOffset": 109,
          "referenceAllele": "G",
          "start": 1674,
          "startIntronDirection": "-",
          "startIntronOffset": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009658",
      "geneNCBI_id": 5777,
      "geneSymbol": "PTPN6",
      "hgvs": [
        "XR_931520.1:n.1675-110G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127633"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1828,
          "endIntronDirection": "-",
          "endIntronOffset": 109,
          "referenceAllele": "G",
          "start": 1828,
          "startIntronDirection": "-",
          "startIntronOffset": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009658",
      "geneNCBI_id": 5777,
      "geneSymbol": "PTPN6",
      "hgvs": [
        "XM_011520988.2:c.1680-110G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519290.1:n.1680-110G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545937"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1830,
          "endIntronDirection": "-",
          "endIntronOffset": 109,
          "referenceAllele": "G",
          "start": 1830,
          "startIntronDirection": "-",
          "startIntronOffset": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009658",
      "geneNCBI_id": 5777,
      "geneSymbol": "PTPN6",
      "hgvs": [
        "XM_024449106.1:c.1674-110G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304874.1:n.1674-110G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582666"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1830,
          "endIntronDirection": "-",
          "endIntronOffset": 109,
          "referenceAllele": "G",
          "start": 1830,
          "startIntronDirection": "-",
          "startIntronOffset": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009658",
      "geneNCBI_id": 5777,
      "geneSymbol": "PTPN6",
      "hgvs": [
        "NM_002831.6:c.1674-110G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002822.2:n.1674-110G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665741",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318974.14:c.1674-110G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002831.6:c.1674-110G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326010.9:n.1674-110G>A"
          },
          "RefSeq": {
            "hgvs": "NP_002822.2:n.1674-110G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1828,
          "endIntronDirection": "-",
          "endIntronOffset": 109,
          "referenceAllele": "G",
          "start": 1828,
          "startIntronDirection": "-",
          "startIntronOffset": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009658",
      "geneNCBI_id": 5777,
      "geneSymbol": "PTPN6",
      "hgvs": [
        "NM_080548.5:c.1680-110G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_536858.1:n.1680-110G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729038"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830157033",
      "coordinates": [
        {
          "allele": "A",
          "end": 1864,
          "referenceAllele": "G",
          "start": 1863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009658",
      "geneNCBI_id": 5777,
      "geneSymbol": "PTPN6",
      "hgvs": [
        "NM_080549.4:c.1707G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_536859.1:p.Ala569="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729039"
    }
  ],
  "type": "nucleotide"
}