{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16619607",
  "communityStandardTitle": [
    "NM_052867.4(NALCN):c.4752_4753del (p.Arg1584SerfsTer2)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=408781[alleleid]",
        "alleleId": 408781,
        "preferredName": "NM_052867.4(NALCN):c.4752_4753del (p.Arg1584fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/423000",
        "RCV": [
          "RCV000481215"
        ],
        "variationId": 423000
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.101714322_101714323del?assembly=hg19",
        "id": "chr13:g.101714322_101714323del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.101061970_101061971del?assembly=hg38",
        "id": "chr13:g.101061970_101061971del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064796154",
        "rs": 1064796154
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-101061969-GCT-G?dataset=gnomad_r4",
        "id": "13-101061969-GCT-G",
        "variant": "13:101061969 GCT / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "",
          "end": 101061973,
          "referenceAllele": "CT",
          "start": 101061971
        }
      ],
      "hgvs": [
        "NC_000013.11:g.101061972_101061973del",
        "CM000675.2:g.101061972_101061973del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "",
          "end": 101714325,
          "referenceAllele": "CT",
          "start": 101714323
        }
      ],
      "hgvs": [
        "NC_000013.10:g.101714324_101714325del",
        "CM000675.1:g.101714324_101714325del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "",
          "end": 100512326,
          "referenceAllele": "CT",
          "start": 100512324
        }
      ],
      "hgvs": [
        "NC_000013.9:g.100512325_100512326del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 360237,
          "referenceAllele": "AG",
          "start": 360235
        }
      ],
      "hgvs": [
        "NG_053176.1:g.360236_360237del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617456"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4988,
          "referenceAllele": "AG",
          "start": 4986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000251127.11:c.4752_4753del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251127.6:p.Arg1584SerfsTer2",
        "hgvsWellDefined": "ENSP00000251127.6:p.[Arg1584_Gln1589del;Cys1591_Ile1614del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741462",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251127.11:c.4752_4753del"
          },
          "RefSeq": {
            "hgvs": "NM_052867.4:c.4752_4753del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251127.6:p.Arg1584SerfsTer2"
          },
          "RefSeq": {
            "hgvs": "NP_443099.1:p.Arg1584SerfsTer2"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5143,
          "referenceAllele": "AG",
          "start": 5141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000648359.1:c.*372_*373del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497465.1:n.*372_*373del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769931"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4572,
          "referenceAllele": "AG",
          "start": 4570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000675150.1:c.4473_4474del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502680.1:p.Arg1491SerfsTer2",
        "hgvsWellDefined": "ENSP00000502680.1:p.[Arg1491_Gln1496del;Cys1498_Ile1521del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775016"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5014,
          "referenceAllele": "AG",
          "start": 5012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000675332.1:c.4839_4840del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501955.1:p.Arg1613SerfsTer2",
        "hgvsWellDefined": "ENSP00000501955.1:p.[Arg1613_Gln1618del;Cys1620_Ile1643del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775165"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4867,
          "referenceAllele": "AG",
          "start": 4865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000676315.1:c.4665_4666del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501603.1:p.Arg1555SerfsTer2",
        "hgvsWellDefined": "ENSP00000501603.1:p.[Arg1555_Gln1560del;Cys1562_Ile1585del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776012"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4835,
          "referenceAllele": "AG",
          "start": 4833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000251127.10:c.4752_4753del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251127.6:p.Arg1584SerfsTer2",
        "hgvsWellDefined": "ENSP00000251127.6:p.[Arg1584_Gln1589del;Cys1591_Ile1614del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249711"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4942,
          "referenceAllele": "AG",
          "start": 4940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_052867.2:c.4752_4753del"
      ],
      "proteinEffect": {
        "hgvs": "NP_443099.1:p.Arg1584SerfsTer2",
        "hgvsWellDefined": "NP_443099.1:p.[Arg1584_Gln1589del;Cys1591_Ile1614del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039865"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4881,
          "referenceAllele": "AG",
          "start": 4879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_011521067.1:c.4809_4810del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519369.1:p.Arg1603SerfsTer2",
        "hgvsWellDefined": "XP_011519369.1:p.[Arg1603_Gln1608del;Cys1610_Ile1633del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088231"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4849,
          "referenceAllele": "AG",
          "start": 4847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_011521068.1:c.4752_4753del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519370.1:p.Arg1584SerfsTer2",
        "hgvsWellDefined": "XP_011519370.1:p.[Arg1584_Gln1589del;Cys1591_Ile1614del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088232"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4794,
          "referenceAllele": "AG",
          "start": 4792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_011521069.1:c.4722_4723del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519371.1:p.Arg1574SerfsTer2",
        "hgvsWellDefined": "XP_011519371.1:p.[Arg1574_Gln1579del;Cys1581_Ile1604del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088233"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4602,
          "referenceAllele": "AG",
          "start": 4600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_011521070.1:c.4530_4531del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519372.1:p.Arg1510SerfsTer2",
        "hgvsWellDefined": "XP_011519372.1:p.[Arg1510_Gln1515del;Cys1517_Ile1540del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088234"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5075,
          "referenceAllele": "AG",
          "start": 5073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350748.1:c.4839_4840del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337677.1:p.Arg1613SerfsTer2",
        "hgvsWellDefined": "NP_001337677.1:p.[Arg1613_Gln1618del;Cys1620_Ile1643del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519612"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4865,
          "referenceAllele": "AG",
          "start": 4863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350749.1:c.4752_4753del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337678.1:p.Arg1584SerfsTer2",
        "hgvsWellDefined": "NP_001337678.1:p.[Arg1584_Gln1589del;Cys1591_Ile1614del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519613"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4901,
          "referenceAllele": "AG",
          "start": 4899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350750.1:c.4665_4666del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337679.1:p.Arg1555SerfsTer2",
        "hgvsWellDefined": "NP_001337679.1:p.[Arg1555_Gln1560del;Cys1562_Ile1585del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519614"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4778,
          "referenceAllele": "AG",
          "start": 4776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350751.1:c.4665_4666del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337680.1:p.Arg1555SerfsTer2",
        "hgvsWellDefined": "NP_001337680.1:p.[Arg1555_Gln1560del;Cys1562_Ile1585del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519615"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4988,
          "referenceAllele": "AG",
          "start": 4986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_052867.3:c.4752_4753del"
      ],
      "proteinEffect": {
        "hgvs": "NP_443099.1:p.Arg1584SerfsTer2",
        "hgvsWellDefined": "NP_443099.1:p.[Arg1584_Gln1589del;Cys1591_Ile1614del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526410"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4882,
          "referenceAllele": "AG",
          "start": 4880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_011521067.2:c.4809_4810del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519369.1:p.Arg1603SerfsTer2",
        "hgvsWellDefined": "XP_011519369.1:p.[Arg1603_Gln1608del;Cys1610_Ile1633del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545980"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4795,
          "referenceAllele": "AG",
          "start": 4793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_011521069.2:c.4722_4723del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519371.1:p.Arg1574SerfsTer2",
        "hgvsWellDefined": "XP_011519371.1:p.[Arg1574_Gln1579del;Cys1581_Ile1604del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545981"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4697,
          "referenceAllele": "AG",
          "start": 4695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_017020536.2:c.4305_4306del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876025.1:p.Arg1435SerfsTer2",
        "hgvsWellDefined": "XP_016876025.1:p.[Arg1435_Gln1440del;Cys1442_Ile1465del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572002"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4083,
          "referenceAllele": "AG",
          "start": 4081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_017020537.1:c.3987_3988del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876026.1:p.Arg1329SerfsTer2",
        "hgvsWellDefined": "XP_016876026.1:p.[Arg1329_Gln1334del;Cys1336_Ile1359del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572003"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4969,
          "referenceAllele": "AG",
          "start": 4967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_024449336.1:c.4896_4897del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305104.1:p.Arg1632SerfsTer2",
        "hgvsWellDefined": "XP_024305104.1:p.[Arg1632_Gln1637del;Cys1639_Ile1662del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582893"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4988,
          "referenceAllele": "AG",
          "start": 4986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_052867.4:c.4752_4753del"
      ],
      "proteinEffect": {
        "hgvs": "NP_443099.1:p.Arg1584SerfsTer2",
        "hgvsWellDefined": "NP_443099.1:p.[Arg1584_Gln1589del;Cys1591_Ile1614del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671621",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251127.11:c.4752_4753del"
          },
          "RefSeq": {
            "hgvs": "NM_052867.4:c.4752_4753del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251127.6:p.Arg1584SerfsTer2"
          },
          "RefSeq": {
            "hgvs": "NP_443099.1:p.Arg1584SerfsTer2"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5075,
          "referenceAllele": "AG",
          "start": 5073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350748.2:c.4839_4840del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337677.1:p.Arg1613SerfsTer2",
        "hgvsWellDefined": "NP_001337677.1:p.[Arg1613_Gln1618del;Cys1620_Ile1643del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688474"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4865,
          "referenceAllele": "AG",
          "start": 4863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350749.2:c.4752_4753del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337678.1:p.Arg1584SerfsTer2",
        "hgvsWellDefined": "NP_001337678.1:p.[Arg1584_Gln1589del;Cys1591_Ile1614del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688475"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4901,
          "referenceAllele": "AG",
          "start": 4899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350750.2:c.4665_4666del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337679.1:p.Arg1555SerfsTer2",
        "hgvsWellDefined": "NP_001337679.1:p.[Arg1555_Gln1560del;Cys1562_Ile1585del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688476"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4778,
          "referenceAllele": "AG",
          "start": 4776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350751.2:c.4665_4666del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337680.1:p.Arg1555SerfsTer2",
        "hgvsWellDefined": "NP_001337680.1:p.[Arg1555_Gln1560del;Cys1562_Ile1585del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688477"
    }
  ],
  "type": "nucleotide"
}