{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1955119053",
  "communityStandardTitle": [
    "NM_000525.4(KCNJ11):c.1124_1129del (p.Met375_Ala376del)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1953567655",
        "rs": 1953567655
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-17386962-TTGGCCA-T?dataset=gnomad_r4",
        "id": "11-17386962-TTGGCCA-T",
        "variant": "11:17386962 TTGGCCA / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 17386971,
          "referenceAllele": "CCATGG",
          "start": 17386965
        }
      ],
      "hgvs": [
        "NC_000011.10:g.17386966_17386971del",
        "CM000673.2:g.17386966_17386971del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 17408518,
          "referenceAllele": "CCATGG",
          "start": 17408512
        }
      ],
      "hgvs": [
        "NC_000011.9:g.17408513_17408518del",
        "CM000673.1:g.17408513_17408518del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 17365094,
          "referenceAllele": "CCATGG",
          "start": 17365088
        }
      ],
      "hgvs": [
        "NC_000011.8:g.17365089_17365094del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6697,
          "referenceAllele": "CCATGG",
          "start": 6691
        }
      ],
      "hgvs": [
        "NG_012446.1:g.6692_6697del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002407"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 954,
          "referenceAllele": "CCATGG",
          "start": 948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000682350.1:c.863_868del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508090.1:p.Met288_Ala289del",
        "hgvsWellDefined": "ENSP00000508090.1:p.Met288_Ala289del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827342"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 938,
          "referenceAllele": "CCATGG",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000682764.1:c.863_868del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506780.1:p.Met288_Ala289del",
        "hgvsWellDefined": "ENSP00000506780.1:p.Met288_Ala289del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827753"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1697,
          "referenceAllele": "CCATGG",
          "start": 1691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000339994.5:c.1124_1129del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345708.4:p.Met375_Ala376del",
        "hgvsWellDefined": "ENSP00000345708.4:p.Met375_Ala376del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747858",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339994.5:c.1124_1129del"
          },
          "RefSeq": {
            "hgvs": "NM_000525.4:c.1124_1129del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345708.4:p.Met375_Ala376del"
          },
          "RefSeq": {
            "hgvs": "NP_000516.3:p.Met375_Ala376del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1697,
          "referenceAllele": "CCATGG",
          "start": 1691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000339994.4:c.1124_1129del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345708.4:p.Met375_Ala376del",
        "hgvsWellDefined": "ENSP00000345708.4:p.Met375_Ala376del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260991"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1042,
          "referenceAllele": "CCATGG",
          "start": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000528731.1:c.863_868del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434755.1:p.Met288_Ala289del",
        "hgvsWellDefined": "ENSP00000434755.1:p.Met288_Ala289del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354225"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3078868154",
      "coordinates": [
        {
          "allele": "",
          "end": 1697,
          "referenceAllele": "CCATGG",
          "start": 1691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_000525.3:c.1124_1129del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000516.3:p.Met375_Ala376del",
        "hgvsWellDefined": "NP_000516.3:p.Met375_Ala376del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006582"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1042,
          "referenceAllele": "CCATGG",
          "start": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001166290.1:c.863_868del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159762.1:p.Met288_Ala289del",
        "hgvsWellDefined": "NP_001159762.1:p.Met288_Ala289del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014866"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1193,
          "referenceAllele": "CCATGG",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XM_006718226.2:c.863_868del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718289.1:p.Met288_Ala289del",
        "hgvsWellDefined": "XP_006718289.1:p.Met288_Ala289del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072527"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1287,
          "referenceAllele": "CCATGG",
          "start": 1281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XR_930867.1:n.1282_1287del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS126994"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1326,
          "referenceAllele": "CCATGG",
          "start": 1320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XM_006718226.3:c.863_868del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718289.1:p.Met288_Ala289del",
        "hgvsWellDefined": "XP_006718289.1:p.Met288_Ala289del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539567"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 922,
          "referenceAllele": "CCATGG",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XM_017017680.1:c.863_868del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873169.1:p.Met288_Ala289del",
        "hgvsWellDefined": "XP_016873169.1:p.Met288_Ala289del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569805"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1057,
          "referenceAllele": "CCATGG",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001166290.2:c.863_868del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159762.1:p.Met288_Ala289del",
        "hgvsWellDefined": "NP_001159762.1:p.Met288_Ala289del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678486"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1260,
          "referenceAllele": "CCATGG",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001377296.1:c.863_868del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364225.1:p.Met288_Ala289del",
        "hgvsWellDefined": "NP_001364225.1:p.Met288_Ala289del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695080"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1201,
          "referenceAllele": "CCATGG",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001377297.1:c.863_868del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364226.1:p.Met288_Ala289del",
        "hgvsWellDefined": "NP_001364226.1:p.Met288_Ala289del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695081"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3078868154",
      "coordinates": [
        {
          "allele": "",
          "end": 1697,
          "referenceAllele": "CCATGG",
          "start": 1691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_000525.4:c.1124_1129del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000516.3:p.Met375_Ala376del",
        "hgvsWellDefined": "NP_000516.3:p.Met375_Ala376del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710843",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339994.5:c.1124_1129del"
          },
          "RefSeq": {
            "hgvs": "NM_000525.4:c.1124_1129del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345708.4:p.Met375_Ala376del"
          },
          "RefSeq": {
            "hgvs": "NP_000516.3:p.Met375_Ala376del"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}