{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10184679",
  "communityStandardTitle": [
    "NM_000355.4(TCN2):c.497_498del (p.Leu166ProfsTer7)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=363797[alleleid]",
        "alleleId": 363797,
        "preferredName": "NM_000355.3(TCN2):c.497_498del (p.Leu166Profs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/376919",
        "RCV": [
          "RCV000431820",
          "RCV000624115",
          "RCV000779370"
        ],
        "variationId": 376919
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-31010402-GTC-G",
        "id": "22-31010402-GTC-G",
        "variant": "22:31010402 GTC / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.31010403_31010404del?assembly=hg19",
        "id": "chr22:g.31010403_31010404del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.30614417_30614418del?assembly=hg38",
        "id": "chr22:g.30614417_30614418del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.30614416_30614417del?assembly=hg38",
        "id": "chr22:g.30614416_30614417del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/778381859",
        "rs": 778381859
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-31010402-GTC-G?dataset=gnomad_r2_1",
        "id": "22-31010402-GTC-G",
        "variant": "22:31010402 GTC / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-30614415-GTC-G?dataset=gnomad_r3",
        "id": "22-30614415-GTC-G",
        "variant": "22:30614415 GTC / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-30614415-GTC-G?dataset=gnomad_r4",
        "id": "22-30614415-GTC-G",
        "variant": "22:30614415 GTC / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "",
          "end": 30614419,
          "referenceAllele": "TC",
          "start": 30614417
        }
      ],
      "hgvs": [
        "NC_000022.11:g.30614418_30614419del",
        "CM000684.2:g.30614418_30614419del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "",
          "end": 31010406,
          "referenceAllele": "TC",
          "start": 31010404
        }
      ],
      "hgvs": [
        "NC_000022.10:g.31010405_31010406del",
        "CM000684.1:g.31010405_31010406del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "",
          "end": 29340406,
          "referenceAllele": "TC",
          "start": 29340404
        }
      ],
      "hgvs": [
        "NC_000022.9:g.29340405_29340406del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 12246,
          "referenceAllele": "TC",
          "start": 12244
        }
      ],
      "hgvs": [
        "NG_007263.1:g.12245_12246del",
        "LRG_116:g.12245_12246del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000511"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1975,
          "referenceAllele": "TC",
          "start": 1973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000471659.2:n.1974_1975del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905190"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 669,
          "referenceAllele": "TC",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698263.1:c.497_498del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513635.1:p.Leu166ProfsTer7",
        "hgvsWellDefined": "ENSP00000513635.1:p.[Leu166_Tyr181delinsProProGlu;Val183_Glu184delinsGly;Phe186_Ala196del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909266"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1975,
          "referenceAllele": "TC",
          "start": 1973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698264.1:n.1974_1975del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909267"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 669,
          "referenceAllele": "TC",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698265.1:c.497_498del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513636.1:p.Leu166ProfsTer7",
        "hgvsWellDefined": "ENSP00000513636.1:p.[Leu166_Tyr181delinsProProGlu;Val183_Glu184delinsGly;Phe186_Ala196del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909268"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 669,
          "referenceAllele": "TC",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698266.1:c.497_498del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513637.1:p.Leu166ProfsTer7",
        "hgvsWellDefined": "ENSP00000513637.1:p.[Leu166_Tyr181delinsProProGlu;Val183_Glu184delinsGly;Phe186_Ala196del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909269"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 669,
          "referenceAllele": "TC",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698267.1:c.497_498del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513638.1:p.Leu166ProfsTer7",
        "hgvsWellDefined": "ENSP00000513638.1:p.[Leu166_Tyr181delinsProProGlu;Val183_Glu184delinsGly;Phe186_Ala196del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909270"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 669,
          "referenceAllele": "TC",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698268.1:c.497_498del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513639.1:p.Leu166ProfsTer7",
        "hgvsWellDefined": "ENSP00000513639.1:p.[Leu166_Tyr181delinsProProGlu;Val183_Glu184delinsGly;Phe186_Ala196del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909271"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 499,
          "referenceAllele": "TC",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698269.1:c.*63_*64del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513640.1:n.*63_*64del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909272"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 598,
          "endIntronDirection": "-",
          "endIntronOffset": 881,
          "referenceAllele": "TC",
          "start": 598,
          "startIntronDirection": "-",
          "startIntronOffset": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698270.1:c.428-883_428-882del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513641.1:n.428-883_428-882del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909273"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 669,
          "referenceAllele": "TC",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698271.1:c.497_498del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513642.1:p.Leu166ProfsTer7",
        "hgvsWellDefined": "ENSP00000513642.1:p.[Leu166_Tyr181delinsProProGlu;Val183_Glu184delinsGly;Phe186_Cys196del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909274"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 669,
          "referenceAllele": "TC",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698272.1:c.497_498del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513643.1:p.Leu166ProfsTer7",
        "hgvsWellDefined": "ENSP00000513643.1:p.[Leu166_Tyr181delinsProProGlu;Val183_Glu184delinsGly;Phe186_Ala196del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909275"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 645,
          "referenceAllele": "TC",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698273.1:c.488_489del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513644.1:p.Leu163ProfsTer7",
        "hgvsWellDefined": "ENSP00000513644.1:p.[Leu163_Tyr178delinsProProGlu;Val180_Glu181delinsGly;Phe183_Ala193del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909276"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 656,
          "referenceAllele": "TC",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000215838.8:c.497_498del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000215838.3:p.Leu166ProfsTer7",
        "hgvsWellDefined": "ENSP00000215838.3:p.[Leu166_Tyr181delinsProProGlu;Val183_Glu184delinsGly;Phe186_Ala196del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740243",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000215838.8:c.497_498del"
          },
          "RefSeq": {
            "hgvs": "NM_000355.4:c.497_498del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000215838.3:p.Leu166ProfsTer7"
          },
          "RefSeq": {
            "hgvs": "NP_000346.2:p.Leu166ProfsTer7"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 992,
          "referenceAllele": "TC",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000215838.7:c.497_498del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000215838.3:p.Leu166ProfsTer7",
        "hgvsWellDefined": "ENSP00000215838.3:p.[Leu166_Tyr181delinsProProGlu;Val183_Glu184delinsGly;Phe186_Ala196del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247910"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 666,
          "referenceAllele": "TC",
          "start": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000405742.7:c.485_486del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385914.3:p.Leu162ProfsTer7",
        "hgvsWellDefined": "ENSP00000385914.3:p.[Leu162_Tyr177delinsProProGlu;Val179_Glu180delinsGly;Phe182_Ala192del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280428"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 545,
          "referenceAllele": "TC",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000407817.3:c.416_417del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384914.3:p.Leu139ProfsTer7",
        "hgvsWellDefined": "ENSP00000384914.3:p.[Leu139_Tyr154delinsProProGlu;Val156_Glu157delinsGly;Phe159_Ala169del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281021"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 848,
          "referenceAllele": "TC",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000450638.5:c.422_423del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394184.2:p.Leu141ProfsTer7",
        "hgvsWellDefined": "ENSP00000394184.2:p.[Leu141_Tyr156delinsProProGlu;Val158_Glu159delinsGly;Phe161_Ala171del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300797"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 747,
          "referenceAllele": "TC",
          "start": 745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "NM_000355.3:c.497_498del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000346.2:p.Leu166ProfsTer7",
        "hgvsWellDefined": "NP_000346.2:p.[Leu166_Tyr181delinsProProGlu;Val183_Glu184delinsGly;Phe186_Ala196del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006418"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 666,
          "referenceAllele": "TC",
          "start": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "NM_001184726.1:c.416_417del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171655.1:p.Leu139ProfsTer7",
        "hgvsWellDefined": "NP_001171655.1:p.[Leu139_Tyr154delinsProProGlu;Val156_Glu157delinsGly;Phe159_Ala169del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015933"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 656,
          "referenceAllele": "TC",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "NM_000355.4:c.497_498del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000346.2:p.Leu166ProfsTer7",
        "hgvsWellDefined": "NP_000346.2:p.[Leu166_Tyr181delinsProProGlu;Val183_Glu184delinsGly;Phe186_Ala196del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674804",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000215838.8:c.497_498del"
          },
          "RefSeq": {
            "hgvs": "NM_000355.4:c.497_498del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000215838.3:p.Leu166ProfsTer7"
          },
          "RefSeq": {
            "hgvs": "NP_000346.2:p.Leu166ProfsTer7"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 575,
          "referenceAllele": "TC",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "NM_001184726.2:c.416_417del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171655.1:p.Leu139ProfsTer7",
        "hgvsWellDefined": "NP_001171655.1:p.[Leu139_Tyr154delinsProProGlu;Val156_Glu157delinsGly;Phe159_Ala169del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713599"
    }
  ],
  "type": "nucleotide"
}