{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA212817",
  "communityStandardTitle": [
    "NM_001146079.2(CLDN14):c.398del (p.Met133ArgfsTer24)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19889[alleleid]",
        "alleleId": 19889,
        "preferredName": "NM_001146079.2(CLDN14):c.398del (p.Met133fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4850",
        "RCV": [
          "RCV000005123"
        ],
        "variationId": 4850
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.37833596del?assembly=hg19",
        "id": "chr21:g.37833596del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.36461298del?assembly=hg38",
        "id": "chr21:g.36461298del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786200885",
        "rs": 786200885
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-37833595-CA-C?dataset=gnomad_r2_1",
        "id": "21-37833595-CA-C",
        "variant": "21:37833595 CA / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-36461297-CA-C?dataset=gnomad_r4",
        "id": "21-36461297-CA-C",
        "variant": "21:36461297 CA / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "",
          "end": 36461298,
          "referenceAllele": "A",
          "start": 36461297
        }
      ],
      "hgvs": [
        "NC_000021.9:g.36461298del",
        "CM000683.2:g.36461298del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "",
          "end": 37833596,
          "referenceAllele": "A",
          "start": 37833595
        }
      ],
      "hgvs": [
        "NC_000021.8:g.37833596del",
        "CM000683.1:g.37833596del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "",
          "end": 36755466,
          "referenceAllele": "A",
          "start": 36755465
        }
      ],
      "hgvs": [
        "NC_000021.7:g.36755466del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 120272,
          "referenceAllele": "T",
          "start": 120271
        }
      ],
      "hgvs": [
        "NG_011777.1:g.120272del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001961"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1107,
          "referenceAllele": "T",
          "start": 1106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002035",
      "geneNCBI_id": 23562,
      "geneSymbol": "CLDN14",
      "hgvs": [
        "ENST00000399135.6:c.398del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382087.1:p.Met133ArgfsTer24",
        "hgvsWellDefined": "ENSP00000382087.1:p.[Met133_Val136delinsArgTrpPro;Trp138_Pro153delinsProGlyProProThrThrTrpCysArgThr;Gly155_Gln162delinsThrThrArgCysCysProAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000399135.6:c.398del"
          },
          "RefSeq": {
            "hgvs": "NM_001146079.2:c.398del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382087.1:p.Met133ArgfsTer24"
          },
          "RefSeq": {
            "hgvs": "NP_001139551.1:p.Met133ArgfsTer24"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 776,
          "referenceAllele": "T",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002035",
      "geneNCBI_id": 23562,
      "geneSymbol": "CLDN14",
      "hgvs": [
        "ENST00000342108.2:c.398del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339292.2:p.Met133ArgfsTer24",
        "hgvsWellDefined": "ENSP00000339292.2:p.[Met133_Val136delinsArgTrpPro;Trp138_Pro153delinsProGlyProProThrThrTrpCysArgThr;Gly155_Gln162delinsThrThrArgCysCysProAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261482"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1075,
          "referenceAllele": "T",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002035",
      "geneNCBI_id": 23562,
      "geneSymbol": "CLDN14",
      "hgvs": [
        "ENST00000399135.5:c.398del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382087.1:p.Met133ArgfsTer24",
        "hgvsWellDefined": "ENSP00000382087.1:p.[Met133_Val136delinsArgTrpPro;Trp138_Pro153delinsProGlyProProThrThrTrpCysArgThr;Gly155_Gln162delinsThrThrArgCysCysProAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278559"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 653,
          "referenceAllele": "T",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002035",
      "geneNCBI_id": 23562,
      "geneSymbol": "CLDN14",
      "hgvs": [
        "ENST00000399136.5:c.398del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382088.1:p.Met133ArgfsTer24",
        "hgvsWellDefined": "ENSP00000382088.1:p.[Met133_Val136delinsArgTrpPro;Trp138_Pro153delinsProGlyProProThrThrTrpCysArgThr;Gly155_Gln162delinsThrThrArgCysCysProAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278560"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1265,
          "referenceAllele": "T",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002035",
      "geneNCBI_id": 23562,
      "geneSymbol": "CLDN14",
      "hgvs": [
        "ENST00000399137.5:c.398del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382090.1:p.Met133ArgfsTer24",
        "hgvsWellDefined": "ENSP00000382090.1:p.[Met133_Val136delinsArgTrpPro;Trp138_Pro153delinsProGlyProProThrThrTrpCysArgThr;Gly155_Gln162delinsThrThrArgCysCysProAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278561"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 554,
          "referenceAllele": "T",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002035",
      "geneNCBI_id": 23562,
      "geneSymbol": "CLDN14",
      "hgvs": [
        "ENST00000399139.5:c.398del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382092.1:p.Met133ArgfsTer24",
        "hgvsWellDefined": "ENSP00000382092.1:p.[Met133_Val136delinsArgTrpPro;Trp138_Pro153delinsProGlyProProThrThrTrpCysArgThr;Gly155_Gln162delinsThrThrArgCysCysProAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278563"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 776,
          "referenceAllele": "T",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002035",
      "geneNCBI_id": 23562,
      "geneSymbol": "CLDN14",
      "hgvs": [
        "NM_001146077.1:c.398del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139549.1:p.Met133ArgfsTer24",
        "hgvsWellDefined": "NP_001139549.1:p.[Met133_Val136delinsArgTrpPro;Trp138_Pro153delinsProGlyProProThrThrTrpCysArgThr;Gly155_Gln162delinsThrThrArgCysCysProAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013851"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 872,
          "referenceAllele": "T",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002035",
      "geneNCBI_id": 23562,
      "geneSymbol": "CLDN14",
      "hgvs": [
        "NM_001146078.2:c.398del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139550.1:p.Met133ArgfsTer24",
        "hgvsWellDefined": "NP_001139550.1:p.[Met133_Val136delinsArgTrpPro;Trp138_Pro153delinsProGlyProProThrThrTrpCysArgThr;Gly155_Gln162delinsThrThrArgCysCysProAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013852"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1075,
          "referenceAllele": "T",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002035",
      "geneNCBI_id": 23562,
      "geneSymbol": "CLDN14",
      "hgvs": [
        "NM_001146079.1:c.398del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139551.1:p.Met133ArgfsTer24",
        "hgvsWellDefined": "NP_001139551.1:p.[Met133_Val136delinsArgTrpPro;Trp138_Pro153delinsProGlyProProThrThrTrpCysArgThr;Gly155_Gln162delinsThrThrArgCysCysProAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013853"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 554,
          "referenceAllele": "T",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002035",
      "geneNCBI_id": 23562,
      "geneSymbol": "CLDN14",
      "hgvs": [
        "NM_012130.3:c.398del"
      ],
      "proteinEffect": {
        "hgvs": "NP_036262.1:p.Met133ArgfsTer24",
        "hgvsWellDefined": "NP_036262.1:p.[Met133_Val136delinsArgTrpPro;Trp138_Pro153delinsProGlyProProThrThrTrpCysArgThr;Gly155_Gln162delinsThrThrArgCysCysProAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032334"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1265,
          "referenceAllele": "T",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002035",
      "geneNCBI_id": 23562,
      "geneSymbol": "CLDN14",
      "hgvs": [
        "NM_144492.2:c.398del"
      ],
      "proteinEffect": {
        "hgvs": "NP_652763.1:p.Met133ArgfsTer24",
        "hgvsWellDefined": "NP_652763.1:p.[Met133_Val136delinsArgTrpPro;Trp138_Pro153delinsProGlyProProThrThrTrpCysArgThr;Gly155_Gln162delinsThrThrArgCysCysProAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041083"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 797,
          "referenceAllele": "T",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002035",
      "geneNCBI_id": 23562,
      "geneSymbol": "CLDN14",
      "hgvs": [
        "XM_011529519.1:c.398del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527821.1:p.Met133ArgfsTer24",
        "hgvsWellDefined": "XP_011527821.1:p.[Met133_Val136delinsArgTrpPro;Trp138_Pro153delinsProGlyProProThrThrTrpCysArgThr;Gly155_Gln162delinsThrThrArgCysCysProAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096588"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 468,
          "endIntronDirection": "+",
          "endIntronOffset": 15291,
          "referenceAllele": "A",
          "start": 468,
          "startIntronDirection": "+",
          "startIntronOffset": 15290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055953",
      "geneNCBI_id": 105369301,
      "geneSymbol": "CLDN14-AS1",
      "hgvs": [
        "XR_937694.1:n.468+15291del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132496"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 468,
          "endIntronDirection": "+",
          "endIntronOffset": 15291,
          "referenceAllele": "A",
          "start": 468,
          "startIntronDirection": "+",
          "startIntronOffset": 15290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055953",
      "geneNCBI_id": 105369301,
      "geneSymbol": "CLDN14-AS1",
      "hgvs": [
        "XR_937695.1:n.468+15291del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132497"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 468,
          "endIntronDirection": "+",
          "endIntronOffset": 15291,
          "referenceAllele": "A",
          "start": 468,
          "startIntronDirection": "+",
          "startIntronOffset": 15290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055953",
      "geneNCBI_id": 105369301,
      "geneSymbol": "CLDN14-AS1",
      "hgvs": [
        "XR_937696.1:n.468+15291del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132498"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 468,
          "endIntronDirection": "+",
          "endIntronOffset": 15291,
          "referenceAllele": "A",
          "start": 468,
          "startIntronDirection": "+",
          "startIntronOffset": 15290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055953",
      "geneNCBI_id": 105369301,
      "geneSymbol": "CLDN14-AS1",
      "hgvs": [
        "XR_001755025.1:n.468+15291del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600941"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1107,
          "referenceAllele": "T",
          "start": 1106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002035",
      "geneNCBI_id": 23562,
      "geneSymbol": "CLDN14",
      "hgvs": [
        "NM_001146079.2:c.398del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139551.1:p.Met133ArgfsTer24",
        "hgvsWellDefined": "NP_001139551.1:p.[Met133_Val136delinsArgTrpPro;Trp138_Pro153delinsProGlyProProThrThrTrpCysArgThr;Gly155_Gln162delinsThrThrArgCysCysProAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663793",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000399135.6:c.398del"
          },
          "RefSeq": {
            "hgvs": "NM_001146079.2:c.398del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382087.1:p.Met133ArgfsTer24"
          },
          "RefSeq": {
            "hgvs": "NP_001139551.1:p.Met133ArgfsTer24"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 837,
          "referenceAllele": "T",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002035",
      "geneNCBI_id": 23562,
      "geneSymbol": "CLDN14",
      "hgvs": [
        "NM_001146078.3:c.398del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139550.1:p.Met133ArgfsTer24",
        "hgvsWellDefined": "NP_001139550.1:p.[Met133_Val136delinsArgTrpPro;Trp138_Pro153delinsProGlyProProThrThrTrpCysArgThr;Gly155_Gln162delinsThrThrArgCysCysProAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677981"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 580,
          "referenceAllele": "T",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002035",
      "geneNCBI_id": 23562,
      "geneSymbol": "CLDN14",
      "hgvs": [
        "NM_012130.4:c.398del"
      ],
      "proteinEffect": {
        "hgvs": "NP_036262.1:p.Met133ArgfsTer24",
        "hgvsWellDefined": "NP_036262.1:p.[Met133_Val136delinsArgTrpPro;Trp138_Pro153delinsProGlyProProThrThrTrpCysArgThr;Gly155_Gln162delinsThrThrArgCysCysProAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697004"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1297,
          "referenceAllele": "T",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002035",
      "geneNCBI_id": 23562,
      "geneSymbol": "CLDN14",
      "hgvs": [
        "NM_144492.3:c.398del"
      ],
      "proteinEffect": {
        "hgvs": "NP_652763.1:p.Met133ArgfsTer24",
        "hgvsWellDefined": "NP_652763.1:p.[Met133_Val136delinsArgTrpPro;Trp138_Pro153delinsProGlyProProThrThrTrpCysArgThr;Gly155_Gln162delinsThrThrArgCysCysProAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699886"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 776,
          "referenceAllele": "T",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002035",
      "geneNCBI_id": 23562,
      "geneSymbol": "CLDN14",
      "hgvs": [
        "NM_001146077.2:c.398del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139549.1:p.Met133ArgfsTer24",
        "hgvsWellDefined": "NP_001139549.1:p.[Met133_Val136delinsArgTrpPro;Trp138_Pro153delinsProGlyProProThrThrTrpCysArgThr;Gly155_Gln162delinsThrThrArgCysCysProAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712876"
    }
  ],
  "type": "nucleotide"
}