{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16042588",
  "communityStandardTitle": [
    "NM_000238.4(KCNH2):c.3200dup (p.Gln1068ThrfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=359656[alleleid]",
        "alleleId": 359656,
        "preferredName": "NM_000238.4(KCNH2):c.3200dup (p.Gln1068fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372942",
        "RCV": [
          "RCV000414739"
        ],
        "variationId": 372942
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.150644095dupA?assembly=hg19",
        "id": "chr7:g.150644095dupA"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.150644094_150644095insA?assembly=hg19",
        "id": "chr7:g.150644094_150644095insA"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.150947007dupA?assembly=hg38",
        "id": "chr7:g.150947007dupA"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.150947006_150947007insA?assembly=hg38",
        "id": "chr7:g.150947006_150947007insA"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518089",
        "rs": 1057518089
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 150947007,
          "referenceAllele": "",
          "start": 150947007
        }
      ],
      "hgvs": [
        "NC_000007.14:g.150947007dup",
        "CM000669.2:g.150947007dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 150644095,
          "referenceAllele": "",
          "start": 150644095
        }
      ],
      "hgvs": [
        "NC_000007.13:g.150644095dup",
        "CM000669.1:g.150644095dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 150275028,
          "referenceAllele": "",
          "start": 150275028
        }
      ],
      "hgvs": [
        "NC_000007.12:g.150275028dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 35920,
          "referenceAllele": "",
          "start": 35920
        }
      ],
      "hgvs": [
        "NG_008916.1:g.35920dup",
        "LRG_288:g.35920dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001295"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4033,
          "referenceAllele": "",
          "start": 4033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000684241.1:n.4033dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3608,
          "referenceAllele": "",
          "start": 3608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000262186.10:c.3200dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262186.5:p.Gln1068ThrfsTer?",
        "hgvsWellDefined": "ENSP00000262186.5:p.[Gln1068_Val1074delinsThrGluAlaAspAspAlaGly;Pro1076_Thr1083delinsAlaArgLeuGlnCysCysAspHis;Pro1086_Gly1087delinsAlaTrp;Thr1089_Ser1092delinsHisPheHisIle;Leu1094_Pro1096delinsAlaValAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742291",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262186.10:c.3200dup"
          },
          "RefSeq": {
            "hgvs": "NM_000238.4:c.3200dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262186.5:p.Gln1068ThrfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000229.1:p.Gln1068ThrfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2481,
          "referenceAllele": "",
          "start": 2481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000330883.9:c.2180dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328531.4:p.Gln728ThrfsTer?",
        "hgvsWellDefined": "ENSP00000328531.4:p.[Gln728_Val734delinsThrGluAlaAspAspAlaGly;Pro736_Thr743delinsAlaArgLeuGlnCysCysAspHis;Pro746_Gly747delinsAlaTrp;Thr749_Ser752delinsHisPheHisIle;Leu754_Pro756delinsAlaValAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747106"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3602,
          "referenceAllele": "",
          "start": 3602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000262186.9:c.3200dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262186.5:p.Gln1068ThrfsTer?",
        "hgvsWellDefined": "ENSP00000262186.5:p.[Gln1068_Val1074delinsThrGluAlaAspAspAlaGly;Pro1076_Thr1083delinsAlaArgLeuGlnCysCysAspHis;Pro1086_Gly1087delinsAlaTrp;Thr1089_Ser1092delinsHisPheHisIle;Leu1094_Pro1096delinsAlaValAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247143"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2583,
          "referenceAllele": "",
          "start": 2583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000330883.8:c.2180dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328531.4:p.Gln728ThrfsTer?",
        "hgvsWellDefined": "ENSP00000328531.4:p.[Gln728_Val734delinsThrGluAlaAspAspAlaGly;Pro736_Thr743delinsAlaArgLeuGlnCysCysAspHis;Pro746_Gly747delinsAlaTrp;Thr749_Ser752delinsHisPheHisIle;Leu754_Pro756delinsAlaValAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247395"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3601,
          "referenceAllele": "",
          "start": 3601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_000238.3:c.3200dup",
        "LRG_288t1:c.3200dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000229.1:p.Gln1068ThrfsTer?",
        "hgvsWellDefined": "NP_000229.1:p.[Gln1068_Val1074delinsThrGluAlaAspAspAlaGly;Pro1076_Thr1083delinsAlaArgLeuGlnCysCysAspHis;Pro1086_Gly1087delinsAlaTrp;Thr1089_Ser1092delinsHisPheHisIle;Leu1094_Pro1096delinsAlaValAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006301"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2506,
          "referenceAllele": "",
          "start": 2506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_172057.2:c.2180dup",
        "LRG_288t3:c.2180dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_742054.1:p.Gln728ThrfsTer?",
        "hgvsWellDefined": "NP_742054.1:p.[Gln728_Val734delinsThrGluAlaAspAspAlaGly;Pro736_Thr743delinsAlaArgLeuGlnCysCysAspHis;Pro746_Gly747delinsAlaTrp;Thr749_Ser752delinsHisPheHisIle;Leu754_Pro756delinsAlaValAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042626"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2915,
          "referenceAllele": "",
          "start": 2915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_011516185.1:c.2900dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514487.1:p.Gln968ThrfsTer?",
        "hgvsWellDefined": "XP_011514487.1:p.[Gln968_Val974delinsThrGluAlaAspAspAlaGly;Pro976_Thr983delinsAlaArgLeuGlnCysCysAspHis;Pro986_Gly987delinsAlaTrp;Thr989_Ser992delinsHisPheHisIle;Leu994_Pro996delinsAlaValAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083388"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3012,
          "referenceAllele": "",
          "start": 3012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_011516185.2:c.2900dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514487.1:p.Gln968ThrfsTer?",
        "hgvsWellDefined": "XP_011514487.1:p.[Gln968_Val974delinsThrGluAlaAspAspAlaGly;Pro976_Thr983delinsAlaArgLeuGlnCysCysAspHis;Pro986_Gly987delinsAlaTrp;Thr989_Ser992delinsHisPheHisIle;Leu994_Pro996delinsAlaValAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544060"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3682,
          "referenceAllele": "",
          "start": 3682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_017012195.1:c.3050dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867684.1:p.Gln1018ThrfsTer?",
        "hgvsWellDefined": "XP_016867684.1:p.[Gln1018_Val1024delinsThrGluAlaAspAspAlaGly;Pro1026_Thr1033delinsAlaArgLeuGlnCysCysAspHis;Pro1036_Gly1037delinsAlaTrp;Thr1039_Ser1042delinsHisPheHisIle;Leu1044_Pro1046delinsAlaValAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565851"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3142,
          "referenceAllele": "",
          "start": 3142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_017012196.1:c.3023dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867685.1:p.Gln1009ThrfsTer?",
        "hgvsWellDefined": "XP_016867685.1:p.[Gln1009_Val1015delinsThrGluAlaAspAspAlaGly;Pro1017_Thr1024delinsAlaArgLeuGlnCysCysAspHis;Pro1027_Gly1028delinsAlaTrp;Thr1030_Ser1033delinsHisPheHisIle;Leu1035_Pro1037delinsAlaValAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565852"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3608,
          "referenceAllele": "",
          "start": 3608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_000238.4:c.3200dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000229.1:p.Gln1068ThrfsTer?",
        "hgvsWellDefined": "NP_000229.1:p.[Gln1068_Val1074delinsThrGluAlaAspAspAlaGly;Pro1076_Thr1083delinsAlaArgLeuGlnCysCysAspHis;Pro1086_Gly1087delinsAlaTrp;Thr1089_Ser1092delinsHisPheHisIle;Leu1094_Pro1096delinsAlaValAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674756",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262186.10:c.3200dup"
          },
          "RefSeq": {
            "hgvs": "NM_000238.4:c.3200dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262186.5:p.Gln1068ThrfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000229.1:p.Gln1068ThrfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2481,
          "referenceAllele": "",
          "start": 2481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_172057.3:c.2180dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_742054.1:p.Gln728ThrfsTer?",
        "hgvsWellDefined": "NP_742054.1:p.[Gln728_Val734delinsThrGluAlaAspAspAlaGly;Pro736_Thr743delinsAlaArgLeuGlnCysCysAspHis;Pro746_Gly747delinsAlaTrp;Thr749_Ser752delinsHisPheHisIle;Leu754_Pro756delinsAlaValAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729522"
    }
  ],
  "type": "nucleotide"
}