{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA201659",
  "communityStandardTitle": [
    "NM_014028.4(OSTM1):c.415_416del (p.Gln140GlufsTer11)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=192452[alleleid]",
        "alleleId": 192452,
        "preferredName": "NM_014028.4(OSTM1):c.415_416del (p.Gln140fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/195291",
        "RCV": [
          "RCV000175853",
          "RCV000724855"
        ],
        "variationId": 195291
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.108385490_108385491del?assembly=hg19",
        "id": "chr6:g.108385490_108385491del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.108064286_108064287del?assembly=hg38",
        "id": "chr6:g.108064286_108064287del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/794727287",
        "rs": 794727287
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 108064291,
          "referenceAllele": "CT",
          "start": 108064289
        }
      ],
      "hgvs": [
        "NC_000006.12:g.108064290_108064291del",
        "CM000668.2:g.108064290_108064291del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 108385495,
          "referenceAllele": "CT",
          "start": 108385493
        }
      ],
      "hgvs": [
        "NC_000006.11:g.108385494_108385495del",
        "CM000668.1:g.108385494_108385495del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 108492188,
          "referenceAllele": "CT",
          "start": 108492186
        }
      ],
      "hgvs": [
        "NC_000006.10:g.108492187_108492188del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 15452,
          "referenceAllele": "AG",
          "start": 15450
        }
      ],
      "hgvs": [
        "NG_007262.1:g.15451_15452del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000510"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 663,
          "referenceAllele": "AG",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021652",
      "geneNCBI_id": 28962,
      "geneSymbol": "OSTM1",
      "hgvs": [
        "ENST00000467960.2:c.*125_*126del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514449.1:n.*125_*126del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905149"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 562,
          "referenceAllele": "AG",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021652",
      "geneNCBI_id": 28962,
      "geneSymbol": "OSTM1",
      "hgvs": [
        "ENST00000492130.2:c.415_416del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514453.1:p.Gln140GlufsTer11",
        "hgvsWellDefined": "ENSP00000514453.1:p.[Gln140_Ser141delinsGluLeu;Ala143_Arg144delinsGlnLys;Leu147_Asp150delinsAsnGly;Met152_Glu168del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905393"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 562,
          "referenceAllele": "AG",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021652",
      "geneNCBI_id": 28962,
      "geneSymbol": "OSTM1",
      "hgvs": [
        "ENST00000699569.1:c.415_416del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514443.1:p.Gln140GlufsTer11",
        "hgvsWellDefined": "ENSP00000514443.1:p.[Gln140_Ser141delinsGluLeu;Ala143_Arg144delinsGlnLys;Leu147_Asp150delinsAsnGly;Met152_Glu168del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910452"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 132,
          "referenceAllele": "AG",
          "start": 130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021652",
      "geneNCBI_id": 28962,
      "geneSymbol": "OSTM1",
      "hgvs": [
        "ENST00000699571.1:n.131_132del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910454"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 391,
          "referenceAllele": "AG",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021652",
      "geneNCBI_id": 28962,
      "geneSymbol": "OSTM1",
      "hgvs": [
        "ENST00000699572.1:c.319_320del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514444.1:p.Gln108GlufsTer11",
        "hgvsWellDefined": "ENSP00000514444.1:p.[Gln108_Ser109delinsGluLeu;Ala111_Arg112delinsGlnLys;Leu115_Asp118delinsAsnGly;Met120_Glu136del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910455"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 489,
          "referenceAllele": "AG",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021652",
      "geneNCBI_id": 28962,
      "geneSymbol": "OSTM1",
      "hgvs": [
        "ENST00000699573.1:c.415_416del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514445.1:p.Gln140GlufsTer11",
        "hgvsWellDefined": "ENSP00000514445.1:p.[Gln140_Ser141delinsGluLeu;Ala143_Arg144delinsGlnLys;Leu147_Asp150delinsAsnGly;Met152_Glu168del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910456"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 784,
          "referenceAllele": "AG",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021652",
      "geneNCBI_id": 28962,
      "geneSymbol": "OSTM1",
      "hgvs": [
        "ENST00000699574.1:c.*259_*260del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514446.1:n.*259_*260del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910457"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 624,
          "referenceAllele": "AG",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021652",
      "geneNCBI_id": 28962,
      "geneSymbol": "OSTM1",
      "hgvs": [
        "ENST00000699575.1:c.*123_*124del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514447.1:n.*123_*124del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910458"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 581,
          "referenceAllele": "AG",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021652",
      "geneNCBI_id": 28962,
      "geneSymbol": "OSTM1",
      "hgvs": [
        "ENST00000699576.1:c.*64_*65del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514448.1:n.*64_*65del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910459"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 553,
          "referenceAllele": "AG",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021652",
      "geneNCBI_id": 28962,
      "geneSymbol": "OSTM1",
      "hgvs": [
        "ENST00000699577.1:c.415_416del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514450.1:p.Gln140GlufsTer11",
        "hgvsWellDefined": "ENSP00000514450.1:p.[Gln140_Ser141delinsGluLeu;Ala143_Arg144delinsGlnLys;Leu147_Asp150delinsAsnGly;Met152_Glu168del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910460"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 553,
          "referenceAllele": "AG",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021652",
      "geneNCBI_id": 28962,
      "geneSymbol": "OSTM1",
      "hgvs": [
        "ENST00000699578.1:c.415_416del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514451.1:p.Gln140GlufsTer11",
        "hgvsWellDefined": "ENSP00000514451.1:p.[Gln140_Ser141delinsGluLeu;Ala143_Arg144delinsGlnLys;Leu147_Asp150delinsAsnGly;Met152_Glu168del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910461"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 553,
          "referenceAllele": "AG",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021652",
      "geneNCBI_id": 28962,
      "geneSymbol": "OSTM1",
      "hgvs": [
        "ENST00000699579.1:c.415_416del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514452.1:p.Gln140GlufsTer11",
        "hgvsWellDefined": "ENSP00000514452.1:p.[Gln140_Ser141delinsGluLeu;Ala143_Arg144delinsGlnLys;Leu147_Asp150delinsAsnGly;Met152_Glu168del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910462"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 465,
          "referenceAllele": "AG",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021652",
      "geneNCBI_id": 28962,
      "geneSymbol": "OSTM1",
      "hgvs": [
        "ENST00000699580.1:c.-27_-26del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514454.1:n.-27_-26del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910463"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 206,
          "referenceAllele": "AG",
          "start": 204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021652",
      "geneNCBI_id": 28962,
      "geneSymbol": "OSTM1",
      "hgvs": [
        "ENST00000699581.1:c.-27_-26del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514455.1:n.-27_-26del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910464"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 516,
          "referenceAllele": "AG",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021652",
      "geneNCBI_id": 28962,
      "geneSymbol": "OSTM1",
      "hgvs": [
        "ENST00000699582.1:n.515_516del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910465"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 506,
          "referenceAllele": "AG",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021652",
      "geneNCBI_id": 28962,
      "geneSymbol": "OSTM1",
      "hgvs": [
        "ENST00000193322.8:c.415_416del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000193322.3:p.Gln140GlufsTer11",
        "hgvsWellDefined": "ENSP00000193322.3:p.[Gln140_Ser141delinsGluLeu;Ala143_Arg144delinsGlnLys;Leu147_Asp150delinsAsnGly;Met152_Glu168del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740113",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000193322.8:c.415_416del"
          },
          "RefSeq": {
            "hgvs": "NM_014028.4:c.415_416del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000193322.3:p.Gln140GlufsTer11"
          },
          "RefSeq": {
            "hgvs": "NP_054747.2:p.Gln140GlufsTer11"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 502,
          "referenceAllele": "AG",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021652",
      "geneNCBI_id": 28962,
      "geneSymbol": "OSTM1",
      "hgvs": [
        "ENST00000193322.7:c.415_416del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000193322.3:p.Gln140GlufsTer11",
        "hgvsWellDefined": "ENSP00000193322.3:p.[Gln140_Ser141delinsGluLeu;Ala143_Arg144delinsGlnLys;Leu147_Asp150delinsAsnGly;Met152_Glu168del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247731"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 181,
          "referenceAllele": "AG",
          "start": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021652",
      "geneNCBI_id": 28962,
      "geneSymbol": "OSTM1",
      "hgvs": [
        "ENST00000440575.6:c.-27_-26del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398556.2:n.-27_-26del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295956"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 663,
          "referenceAllele": "AG",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021652",
      "geneNCBI_id": 28962,
      "geneSymbol": "OSTM1",
      "hgvs": [
        "ENST00000467960.1:n.662_663del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310987"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 502,
          "referenceAllele": "AG",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021652",
      "geneNCBI_id": 28962,
      "geneSymbol": "OSTM1",
      "hgvs": [
        "NM_014028.3:c.415_416del"
      ],
      "proteinEffect": {
        "hgvs": "NP_054747.2:p.Gln140GlufsTer11",
        "hgvsWellDefined": "NP_054747.2:p.[Gln140_Ser141delinsGluLeu;Ala143_Arg144delinsGlnLys;Leu147_Asp150delinsAsnGly;Met152_Glu168del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032883"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 499,
          "referenceAllele": "AG",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021652",
      "geneNCBI_id": 28962,
      "geneSymbol": "OSTM1",
      "hgvs": [
        "XM_011535775.1:c.415_416del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534077.1:p.Gln140GlufsTer11",
        "hgvsWellDefined": "XP_011534077.1:p.[Gln140_Ser141delinsGluLeu;Ala143_Arg144delinsGlnLys;Leu147_Asp150delinsAsnGly;Met152_Glu168del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102777"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 327,
          "referenceAllele": "AG",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021652",
      "geneNCBI_id": 28962,
      "geneSymbol": "OSTM1",
      "hgvs": [
        "XM_011535776.1:c.-27_-26del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534078.1:n.-27_-26del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102778"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 499,
          "referenceAllele": "AG",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021652",
      "geneNCBI_id": 28962,
      "geneSymbol": "OSTM1",
      "hgvs": [
        "XR_942410.1:n.498_499del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136752"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 498,
          "referenceAllele": "AG",
          "start": 496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021652",
      "geneNCBI_id": 28962,
      "geneSymbol": "OSTM1",
      "hgvs": [
        "XR_942410.3:n.497_498del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS613181"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 506,
          "referenceAllele": "AG",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021652",
      "geneNCBI_id": 28962,
      "geneSymbol": "OSTM1",
      "hgvs": [
        "NM_014028.4:c.415_416del"
      ],
      "proteinEffect": {
        "hgvs": "NP_054747.2:p.Gln140GlufsTer11",
        "hgvsWellDefined": "NP_054747.2:p.[Gln140_Ser141delinsGluLeu;Ala143_Arg144delinsGlnLys;Leu147_Asp150delinsAsnGly;Met152_Glu168del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668174",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000193322.8:c.415_416del"
          },
          "RefSeq": {
            "hgvs": "NM_014028.4:c.415_416del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000193322.3:p.Gln140GlufsTer11"
          },
          "RefSeq": {
            "hgvs": "NP_054747.2:p.Gln140GlufsTer11"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}