{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA381736990",
  "communityStandardTitle": [
    "NM_001567.4(INPPL1):c.2880-1G>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3891178[alleleid]",
        "alleleId": 3891178,
        "preferredName": "NM_001567.4(INPPL1):c.2880-1G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3775028",
        "RCV": [
          "RCV005252028"
        ],
        "variationId": 3775028
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.71948167G>T?assembly=hg19",
        "id": "chr11:g.71948167G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.72237123G>T?assembly=hg38",
        "id": "chr11:g.72237123G>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 72237123,
          "referenceAllele": "G",
          "start": 72237122
        }
      ],
      "hgvs": [
        "NC_000011.10:g.72237123G>T",
        "CM000673.2:g.72237123G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 71948167,
          "referenceAllele": "G",
          "start": 71948166
        }
      ],
      "hgvs": [
        "NC_000011.9:g.71948167G>T",
        "CM000673.1:g.71948167G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 71625815,
          "referenceAllele": "G",
          "start": 71625814
        }
      ],
      "hgvs": [
        "NC_000011.8:g.71625815G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12054,
          "referenceAllele": "C",
          "start": 12053
        }
      ],
      "hgvs": [
        "NG_008169.1:g.12054C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000914"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17286,
          "referenceAllele": "G",
          "start": 17285
        }
      ],
      "hgvs": [
        "NG_023253.1:g.17286G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003745"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17286,
          "referenceAllele": "G",
          "start": 17285
        }
      ],
      "hgvs": [
        "NG_023253.2:g.17286G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673730"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3097,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3097,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006080",
      "geneNCBI_id": 3636,
      "geneSymbol": "INPPL1",
      "hgvs": [
        "ENST00000298229.7:c.2880-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298229.2:n.2880-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744580",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298229.7:c.2880-1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001567.4:c.2880-1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298229.2:n.2880-1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_001558.3:n.2880-1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3083,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3083,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006080",
      "geneNCBI_id": 3636,
      "geneSymbol": "INPPL1",
      "hgvs": [
        "ENST00000298229.6:c.2880-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298229.2:n.2880-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254563"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 268,
          "endIntronDirection": "-",
          "endIntronOffset": 1897,
          "referenceAllele": "G",
          "start": 268,
          "startIntronDirection": "-",
          "startIntronOffset": 1898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006080",
      "geneNCBI_id": 3636,
      "geneSymbol": "INPPL1",
      "hgvs": [
        "ENST00000535985.1:c.269-1898G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360027"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3006,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3006,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006080",
      "geneNCBI_id": 3636,
      "geneSymbol": "INPPL1",
      "hgvs": [
        "ENST00000538751.5:c.2154-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444619.1:n.2154-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361481"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3001,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3001,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006080",
      "geneNCBI_id": 3636,
      "geneSymbol": "INPPL1",
      "hgvs": [
        "ENST00000541756.5:c.2682-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446360.2:n.2682-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363096"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3026,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3026,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006080",
      "geneNCBI_id": 3636,
      "geneSymbol": "INPPL1",
      "hgvs": [
        "NM_001567.3:c.2880-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001558.3:n.2880-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026936"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3403,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3403,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006080",
      "geneNCBI_id": 3636,
      "geneSymbol": "INPPL1",
      "hgvs": [
        "XM_005273978.3:c.2946-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274035.1:n.2946-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067785"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3245,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3245,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006080",
      "geneNCBI_id": 3636,
      "geneSymbol": "INPPL1",
      "hgvs": [
        "XM_005273979.3:c.2946-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274036.1:n.2946-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067786"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3179,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3179,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006080",
      "geneNCBI_id": 3636,
      "geneSymbol": "INPPL1",
      "hgvs": [
        "XM_011544999.1:c.2880-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543301.1:n.2880-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3245,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3245,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006080",
      "geneNCBI_id": 3636,
      "geneSymbol": "INPPL1",
      "hgvs": [
        "XM_011545000.1:c.2946-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543302.1:n.2946-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3250,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3250,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006080",
      "geneNCBI_id": 3636,
      "geneSymbol": "INPPL1",
      "hgvs": [
        "XM_005273979.4:c.2946-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274036.1:n.2946-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3184,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3184,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006080",
      "geneNCBI_id": 3636,
      "geneSymbol": "INPPL1",
      "hgvs": [
        "XM_011544999.2:c.2880-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543301.1:n.2880-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555873"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3382,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3382,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006080",
      "geneNCBI_id": 3636,
      "geneSymbol": "INPPL1",
      "hgvs": [
        "XM_024448501.1:c.3078-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304269.1:n.3078-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582072"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3535,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3535,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006080",
      "geneNCBI_id": 3636,
      "geneSymbol": "INPPL1",
      "hgvs": [
        "XM_024448502.1:c.3078-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304270.1:n.3078-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582073"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3473,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3473,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006080",
      "geneNCBI_id": 3636,
      "geneSymbol": "INPPL1",
      "hgvs": [
        "XM_024448503.1:c.3048-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304271.1:n.3048-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582074"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3316,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3316,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006080",
      "geneNCBI_id": 3636,
      "geneSymbol": "INPPL1",
      "hgvs": [
        "XM_024448504.1:c.3012-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304272.1:n.3012-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582075"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3382,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3382,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006080",
      "geneNCBI_id": 3636,
      "geneSymbol": "INPPL1",
      "hgvs": [
        "XM_024448505.1:c.3078-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304273.1:n.3078-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582076"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3097,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3097,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006080",
      "geneNCBI_id": 3636,
      "geneSymbol": "INPPL1",
      "hgvs": [
        "NM_001567.4:c.2880-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001558.3:n.2880-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665052",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298229.7:c.2880-1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001567.4:c.2880-1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298229.2:n.2880-1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_001558.3:n.2880-1G>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}