{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16617298",
  "communityStandardTitle": [
    "NM_001165963.4(SCN1A):c.3448_3451del (p.Ser1150HisfsTer13)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=405388[alleleid]",
        "alleleId": 405388,
        "preferredName": "NM_001165963.4(SCN1A):c.3448_3451del (p.Ser1150fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/420470",
        "RCV": [
          "RCV000481280"
        ],
        "variationId": 420470
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166872216_166872219del?assembly=hg19",
        "id": "chr2:g.166872216_166872219del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166015706_166015709del?assembly=hg38",
        "id": "chr2:g.166015706_166015709del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064794495",
        "rs": 1064794495
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "",
          "end": 166015710,
          "referenceAllele": "GCTA",
          "start": 166015706
        }
      ],
      "hgvs": [
        "NC_000002.12:g.166015707_166015710del",
        "CM000664.2:g.166015707_166015710del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "",
          "end": 166872220,
          "referenceAllele": "GCTA",
          "start": 166872216
        }
      ],
      "hgvs": [
        "NC_000002.11:g.166872217_166872220del",
        "CM000664.1:g.166872217_166872220del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "",
          "end": 166580466,
          "referenceAllele": "GCTA",
          "start": 166580462
        }
      ],
      "hgvs": [
        "NC_000002.10:g.166580463_166580466del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 62934,
          "referenceAllele": "GCTA",
          "start": 62930
        }
      ],
      "hgvs": [
        "NG_011906.1:g.62931_62934del",
        "LRG_8:g.62931_62934del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002054"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3594,
          "referenceAllele": "GCTA",
          "start": 3590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000689288.1:c.*1484_*1487del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509637.1:n.*1484_*1487del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832093"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3842,
          "referenceAllele": "GCTA",
          "start": 3838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.9:c.3448_3451del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Ser1150HisfsTer13",
        "hgvsWellDefined": "ENSP00000303540.4:p.[Ser1150_Thr1156delinsHisGlnLys;Asp1158_Gly1160del;Pro1162_Thr1174delinsLeuTrpThrSerAlaHis;Glu1176_Cys1180del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745029"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3635,
          "referenceAllele": "GCTA",
          "start": 3631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635750.1:c.3415_3418del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490799.1:p.Ser1139HisfsTer13",
        "hgvsWellDefined": "ENSP00000490799.1:p.[Ser1139_Thr1145delinsHisGlnLys;Asp1147_Gly1149del;Pro1151_Thr1163delinsLeuTrpThrSerAlaHis;Glu1165_Cys1169del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762613"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3720,
          "referenceAllele": "GCTA",
          "start": 3716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635776.1:c.3415_3418del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490692.1:p.Ser1139HisfsTer13",
        "hgvsWellDefined": "ENSP00000490692.1:p.[Ser1139_Thr1145delinsHisGlnLys;Asp1147_Gly1149del;Pro1151_Thr1163delinsLeuTrpThrSerAlaHis;Glu1165_Cys1169del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762634"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3844,
          "referenceAllele": "GCTA",
          "start": 3840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000636194.1:c.*941_*944del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490288.1:n.*941_*944del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762941"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 249,
          "referenceAllele": "GCTA",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637038.1:c.246_249del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763565"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3703,
          "referenceAllele": "GCTA",
          "start": 3699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637968.1:n.3700_3703del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764246"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3898,
          "referenceAllele": "GCTA",
          "start": 3894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637988.1:c.3415_3418del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490780.1:p.Ser1139HisfsTer13",
        "hgvsWellDefined": "ENSP00000490780.1:p.[Ser1139_Thr1145delinsHisGlnLys;Asp1147_Gly1149del;Pro1151_Thr1163delinsLeuTrpThrSerAlaHis;Glu1165_Cys1169del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764260"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3467,
          "referenceAllele": "GCTA",
          "start": 3463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000640036.1:c.3415_3418del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491573.1:p.Ser1139HisfsTer13",
        "hgvsWellDefined": "ENSP00000491573.1:p.[Ser1139_Thr1145delinsHisGlnLys;Asp1147_Gly1149del;Pro1151_Thr1163delinsLeuTrpThrSerAlaHis;Glu1165_Cys1169del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765301"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3691,
          "referenceAllele": "GCTA",
          "start": 3687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641575.1:c.3412_3415del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492917.1:p.Ser1138HisfsTer13",
        "hgvsWellDefined": "ENSP00000492917.1:p.[Ser1138_Thr1144delinsHisGlnLys;Asp1146_Gly1148del;Pro1150_Thr1162delinsLeuTrpThrSerAlaHis;Glu1164_Cys1168del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766184"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3605,
          "referenceAllele": "GCTA",
          "start": 3601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641603.1:c.3448_3451del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492945.1:p.Ser1150HisfsTer13",
        "hgvsWellDefined": "ENSP00000492945.1:p.[Ser1150_Thr1156delinsHisGlnLys;Asp1158_Gly1160del;Pro1162_Thr1174delinsLeuTrpThrSerAlaHis;Glu1176_Cys1180del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766204"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3720,
          "referenceAllele": "GCTA",
          "start": 3716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641996.1:c.*3002_*3005del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493054.1:n.*3002_*3005del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766485"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3670,
          "referenceAllele": "GCTA",
          "start": 3666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000671940.1:c.*1391_*1394del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500336.1:n.*1391_*1394del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773217"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5924,
          "referenceAllele": "GCTA",
          "start": 5920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000673490.1:n.5921_5924del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773702"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3929,
          "referenceAllele": "GCTA",
          "start": 3925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000674923.1:c.3448_3451del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501589.1:p.Ser1150HisfsTer13",
        "hgvsWellDefined": "ENSP00000501589.1:p.[Ser1150_Thr1156delinsHisGlnLys;Asp1158_Gly1160del;Pro1162_Thr1174delinsLeuTrpThrSerAlaHis;Glu1176_Cys1180del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.3448_3451del"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.3448_3451del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Ser1150HisfsTer13"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Ser1150HisfsTer13"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3869,
          "referenceAllele": "GCTA",
          "start": 3865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.8:c.3448_3451del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Ser1150HisfsTer13",
        "hgvsWellDefined": "ENSP00000303540.4:p.[Ser1150_Thr1156delinsHisGlnLys;Asp1158_Gly1160del;Pro1162_Thr1174delinsLeuTrpThrSerAlaHis;Glu1176_Cys1180del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255312"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3436,
          "referenceAllele": "GCTA",
          "start": 3432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000375405.7:c.3415_3418del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364554.3:p.Ser1139HisfsTer13",
        "hgvsWellDefined": "ENSP00000364554.3:p.[Ser1139_Thr1145delinsHisGlnLys;Asp1147_Gly1149del;Pro1151_Thr1163delinsLeuTrpThrSerAlaHis;Glu1165_Cys1169del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270694"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3367,
          "referenceAllele": "GCTA",
          "start": 3363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000409050.1:c.3364_3367del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386312.1:p.Ser1122HisfsTer13",
        "hgvsWellDefined": "ENSP00000386312.1:p.[Ser1122_Thr1128delinsHisGlnLys;Asp1130_Gly1132del;Pro1134_Thr1146delinsLeuTrpThrSerAlaHis;Glu1148_Cys1152del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281214"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3527,
          "referenceAllele": "GCTA",
          "start": 3523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000423058.6:c.3448_3451del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407030.2:p.Ser1150HisfsTer13",
        "hgvsWellDefined": "ENSP00000407030.2:p.[Ser1150_Thr1156delinsHisGlnLys;Asp1158_Gly1160del;Pro1162_Thr1174delinsLeuTrpThrSerAlaHis;Glu1176_Cys1180del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287573"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3469,
          "referenceAllele": "GCTA",
          "start": 3465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.1:c.3448_3451del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Ser1150HisfsTer13",
        "hgvsWellDefined": "NP_001159435.1:p.[Ser1150_Thr1156delinsHisGlnLys;Asp1158_Gly1160del;Pro1162_Thr1174delinsLeuTrpThrSerAlaHis;Glu1176_Cys1180del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014743"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3385,
          "referenceAllele": "GCTA",
          "start": 3381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.1:c.3364_3367del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Ser1122HisfsTer13",
        "hgvsWellDefined": "NP_001159436.1:p.[Ser1122_Thr1128delinsHisGlnLys;Asp1130_Gly1132del;Pro1134_Thr1146delinsLeuTrpThrSerAlaHis;Glu1148_Cys1152del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014744"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3678,
          "referenceAllele": "GCTA",
          "start": 3674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.1:c.3448_3451del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Ser1150HisfsTer13",
        "hgvsWellDefined": "NP_001189364.1:p.[Ser1150_Thr1156delinsHisGlnLys;Asp1158_Gly1160del;Pro1162_Thr1174delinsLeuTrpThrSerAlaHis;Glu1176_Cys1180del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017403"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3436,
          "referenceAllele": "GCTA",
          "start": 3432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.4:c.3415_3418del",
        "LRG_8t1:c.3415_3418del"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Ser1139HisfsTer13",
        "hgvsWellDefined": "NP_008851.3:p.[Ser1139_Thr1145delinsHisGlnLys;Asp1147_Gly1149del;Pro1151_Thr1163delinsLeuTrpThrSerAlaHis;Glu1165_Cys1169del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031895"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 273,
          "referenceAllele": "GCTA",
          "start": 269
        }
      ],
      "hgvs": [
        "NR_110598.1:n.270_273del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054761"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3635,
          "referenceAllele": "GCTA",
          "start": 3631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511598.1:c.3448_3451del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509900.1:p.Ser1150HisfsTer13",
        "hgvsWellDefined": "XP_011509900.1:p.[Ser1150_Thr1156delinsHisGlnLys;Asp1158_Gly1160del;Pro1162_Thr1174delinsLeuTrpThrSerAlaHis;Glu1176_Cys1180del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078859"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3850,
          "referenceAllele": "GCTA",
          "start": 3846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511599.1:c.3448_3451del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509901.1:p.Ser1150HisfsTer13",
        "hgvsWellDefined": "XP_011509901.1:p.[Ser1150_Thr1156delinsHisGlnLys;Asp1158_Gly1160del;Pro1162_Thr1174delinsLeuTrpThrSerAlaHis;Glu1176_Cys1180del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078860"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3726,
          "referenceAllele": "GCTA",
          "start": 3722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511600.1:c.3448_3451del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509902.1:p.Ser1150HisfsTer13",
        "hgvsWellDefined": "XP_011509902.1:p.[Ser1150_Thr1156delinsHisGlnLys;Asp1158_Gly1160del;Pro1162_Thr1174delinsLeuTrpThrSerAlaHis;Glu1176_Cys1180del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078861"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3845,
          "referenceAllele": "GCTA",
          "start": 3841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511601.1:c.3448_3451del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509903.1:p.Ser1150HisfsTer13",
        "hgvsWellDefined": "XP_011509903.1:p.[Ser1150_Thr1156delinsHisGlnLys;Asp1158_Gly1160del;Pro1162_Thr1174delinsLeuTrpThrSerAlaHis;Glu1176_Cys1180del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078862"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3758,
          "referenceAllele": "GCTA",
          "start": 3754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511602.1:c.3448_3451del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509904.1:p.Ser1150HisfsTer13",
        "hgvsWellDefined": "XP_011509904.1:p.[Ser1150_Thr1156delinsHisGlnLys;Asp1158_Gly1160del;Pro1162_Thr1174delinsLeuTrpThrSerAlaHis;Glu1176_Cys1180del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078863"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3632,
          "referenceAllele": "GCTA",
          "start": 3628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511603.1:c.3445_3448del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509905.1:p.Ser1149HisfsTer13",
        "hgvsWellDefined": "XP_011509905.1:p.[Ser1149_Thr1155delinsHisGlnLys;Asp1157_Gly1159del;Pro1161_Thr1173delinsLeuTrpThrSerAlaHis;Glu1175_Cys1179del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078864"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3602,
          "referenceAllele": "GCTA",
          "start": 3598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511604.1:c.3415_3418del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509906.1:p.Ser1139HisfsTer13",
        "hgvsWellDefined": "XP_011509906.1:p.[Ser1139_Thr1145delinsHisGlnLys;Asp1147_Gly1149del;Pro1151_Thr1163delinsLeuTrpThrSerAlaHis;Glu1165_Cys1169del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078865"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3599,
          "referenceAllele": "GCTA",
          "start": 3595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511605.1:c.3412_3415del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509907.1:p.Ser1138HisfsTer13",
        "hgvsWellDefined": "XP_011509907.1:p.[Ser1138_Thr1144delinsHisGlnLys;Asp1146_Gly1148del;Pro1150_Thr1162delinsLeuTrpThrSerAlaHis;Glu1164_Cys1168del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078866"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3551,
          "referenceAllele": "GCTA",
          "start": 3547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511606.1:c.3364_3367del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509908.1:p.Ser1122HisfsTer13",
        "hgvsWellDefined": "XP_011509908.1:p.[Ser1122_Thr1128delinsHisGlnLys;Asp1130_Gly1132del;Pro1134_Thr1146delinsLeuTrpThrSerAlaHis;Glu1148_Cys1152del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078867"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3635,
          "referenceAllele": "GCTA",
          "start": 3631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511607.1:c.3448_3451del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509909.1:p.Ser1150HisfsTer13",
        "hgvsWellDefined": "XP_011509909.1:p.[Ser1150_Thr1156delinsHisGlnLys;Asp1158_Gly1160del;Pro1162_Thr1174delinsLeuTrpThrSerAlaHis;Glu1176_Cys1180del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078868"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3635,
          "referenceAllele": "GCTA",
          "start": 3631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_922981.1:n.3632_3635del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS120043"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3948,
          "referenceAllele": "GCTA",
          "start": 3944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.2:c.3448_3451del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Ser1150HisfsTer13",
        "hgvsWellDefined": "NP_001159435.1:p.[Ser1150_Thr1156delinsHisGlnLys;Asp1158_Gly1160del;Pro1162_Thr1174delinsLeuTrpThrSerAlaHis;Glu1176_Cys1180del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511667"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3777,
          "referenceAllele": "GCTA",
          "start": 3773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.2:c.3364_3367del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Ser1122HisfsTer13",
        "hgvsWellDefined": "NP_001159436.1:p.[Ser1122_Thr1128delinsHisGlnLys;Asp1130_Gly1132del;Pro1134_Thr1146delinsLeuTrpThrSerAlaHis;Glu1148_Cys1152del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511668"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3762,
          "referenceAllele": "GCTA",
          "start": 3758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.2:c.3448_3451del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Ser1150HisfsTer13",
        "hgvsWellDefined": "NP_001189364.1:p.[Ser1150_Thr1156delinsHisGlnLys;Asp1158_Gly1160del;Pro1162_Thr1174delinsLeuTrpThrSerAlaHis;Glu1176_Cys1180del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511850"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3769,
          "referenceAllele": "GCTA",
          "start": 3765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.1:c.3448_3451del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Ser1150HisfsTer13",
        "hgvsWellDefined": "NP_001340877.1:p.[Ser1150_Thr1156delinsHisGlnLys;Asp1158_Gly1160del;Pro1162_Thr1174delinsLeuTrpThrSerAlaHis;Glu1176_Cys1180del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522051"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3637,
          "referenceAllele": "GCTA",
          "start": 3633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.1:c.3415_3418del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Ser1139HisfsTer13",
        "hgvsWellDefined": "NP_001340878.1:p.[Ser1139_Thr1145delinsHisGlnLys;Asp1147_Gly1149del;Pro1151_Thr1163delinsLeuTrpThrSerAlaHis;Glu1165_Cys1169del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522052"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3729,
          "referenceAllele": "GCTA",
          "start": 3725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.1:c.3415_3418del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Ser1139HisfsTer13",
        "hgvsWellDefined": "NP_001340879.1:p.[Ser1139_Thr1145delinsHisGlnLys;Asp1147_Gly1149del;Pro1151_Thr1163delinsLeuTrpThrSerAlaHis;Glu1165_Cys1169del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522053"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3736,
          "referenceAllele": "GCTA",
          "start": 3732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.1:c.3415_3418del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Ser1139HisfsTer13",
        "hgvsWellDefined": "NP_001340880.1:p.[Ser1139_Thr1145delinsHisGlnLys;Asp1147_Gly1149del;Pro1151_Thr1163delinsLeuTrpThrSerAlaHis;Glu1165_Cys1169del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522054"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3828,
          "referenceAllele": "GCTA",
          "start": 3824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.1:c.3415_3418del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Ser1139HisfsTer13",
        "hgvsWellDefined": "NP_001340881.1:p.[Ser1139_Thr1145delinsHisGlnLys;Asp1147_Gly1149del;Pro1151_Thr1163delinsLeuTrpThrSerAlaHis;Glu1165_Cys1169del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522055"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3825,
          "referenceAllele": "GCTA",
          "start": 3821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.1:c.3412_3415del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Ser1138HisfsTer13",
        "hgvsWellDefined": "NP_001340883.1:p.[Ser1138_Thr1144delinsHisGlnLys;Asp1146_Gly1148del;Pro1150_Thr1162delinsLeuTrpThrSerAlaHis;Glu1164_Cys1168del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522056"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3733,
          "referenceAllele": "GCTA",
          "start": 3729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.1:c.3412_3415del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Ser1138HisfsTer13",
        "hgvsWellDefined": "NP_001340884.1:p.[Ser1138_Thr1144delinsHisGlnLys;Asp1146_Gly1148del;Pro1150_Thr1162delinsLeuTrpThrSerAlaHis;Glu1164_Cys1168del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522057"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3685,
          "referenceAllele": "GCTA",
          "start": 3681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.1:c.3364_3367del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Ser1122HisfsTer13",
        "hgvsWellDefined": "NP_001340886.1:p.[Ser1122_Thr1128delinsHisGlnLys;Asp1130_Gly1132del;Pro1134_Thr1146delinsLeuTrpThrSerAlaHis;Glu1148_Cys1152del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522058"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3678,
          "referenceAllele": "GCTA",
          "start": 3674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.1:c.3364_3367del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Ser1122HisfsTer13",
        "hgvsWellDefined": "NP_001340887.1:p.[Ser1122_Thr1128delinsHisGlnLys;Asp1130_Gly1132del;Pro1134_Thr1146delinsLeuTrpThrSerAlaHis;Glu1148_Cys1152del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522059"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3774,
          "referenceAllele": "GCTA",
          "start": 3770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.1:c.3361_3364del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Ser1121HisfsTer13",
        "hgvsWellDefined": "NP_001340889.1:p.[Ser1121_Thr1127delinsHisGlnLys;Asp1129_Gly1131del;Pro1133_Thr1145delinsLeuTrpThrSerAlaHis;Glu1147_Cys1151del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522060"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3844,
          "referenceAllele": "GCTA",
          "start": 3840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.1:c.1006_1009del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Ser336HisfsTer13",
        "hgvsWellDefined": "NP_001340890.1:p.[Ser336_Thr342delinsHisGlnLys;Asp344_Gly346del;Pro348_Thr360delinsLeuTrpThrSerAlaHis;Glu362_Cys366del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522061"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3915,
          "referenceAllele": "GCTA",
          "start": 3911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.5:c.3415_3418del"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Ser1139HisfsTer13",
        "hgvsWellDefined": "NP_008851.3:p.[Ser1139_Thr1145delinsHisGlnLys;Asp1147_Gly1149del;Pro1151_Thr1163delinsLeuTrpThrSerAlaHis;Glu1165_Cys1169del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525436"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3823,
          "referenceAllele": "GCTA",
          "start": 3819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.1:n.3820_3823del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531272"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3837,
          "referenceAllele": "GCTA",
          "start": 3833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738883.1:n.3834_3837del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589320"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3809,
          "referenceAllele": "GCTA",
          "start": 3805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738884.1:n.3806_3809del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589321"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3929,
          "referenceAllele": "GCTA",
          "start": 3925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.3:c.3448_3451del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Ser1150HisfsTer13",
        "hgvsWellDefined": "NP_001159435.1:p.[Ser1150_Thr1156delinsHisGlnLys;Asp1158_Gly1160del;Pro1162_Thr1174delinsLeuTrpThrSerAlaHis;Glu1176_Cys1180del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678433"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3758,
          "referenceAllele": "GCTA",
          "start": 3754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.3:c.3364_3367del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Ser1122HisfsTer13",
        "hgvsWellDefined": "NP_001159436.1:p.[Ser1122_Thr1128delinsHisGlnLys;Asp1130_Gly1132del;Pro1134_Thr1146delinsLeuTrpThrSerAlaHis;Glu1148_Cys1152del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678434"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3707,
          "referenceAllele": "GCTA",
          "start": 3703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.3:c.3448_3451del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Ser1150HisfsTer13",
        "hgvsWellDefined": "NP_001189364.1:p.[Ser1150_Thr1156delinsHisGlnLys;Asp1158_Gly1160del;Pro1162_Thr1174delinsLeuTrpThrSerAlaHis;Glu1176_Cys1180del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679700"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3750,
          "referenceAllele": "GCTA",
          "start": 3746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.2:c.3448_3451del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Ser1150HisfsTer13",
        "hgvsWellDefined": "NP_001340877.1:p.[Ser1150_Thr1156delinsHisGlnLys;Asp1158_Gly1160del;Pro1162_Thr1174delinsLeuTrpThrSerAlaHis;Glu1176_Cys1180del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689996"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3582,
          "referenceAllele": "GCTA",
          "start": 3578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.2:c.3415_3418del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Ser1139HisfsTer13",
        "hgvsWellDefined": "NP_001340878.1:p.[Ser1139_Thr1145delinsHisGlnLys;Asp1147_Gly1149del;Pro1151_Thr1163delinsLeuTrpThrSerAlaHis;Glu1165_Cys1169del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689997"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3674,
          "referenceAllele": "GCTA",
          "start": 3670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.2:c.3415_3418del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Ser1139HisfsTer13",
        "hgvsWellDefined": "NP_001340879.1:p.[Ser1139_Thr1145delinsHisGlnLys;Asp1147_Gly1149del;Pro1151_Thr1163delinsLeuTrpThrSerAlaHis;Glu1165_Cys1169del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689998"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3717,
          "referenceAllele": "GCTA",
          "start": 3713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.2:c.3415_3418del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Ser1139HisfsTer13",
        "hgvsWellDefined": "NP_001340880.1:p.[Ser1139_Thr1145delinsHisGlnLys;Asp1147_Gly1149del;Pro1151_Thr1163delinsLeuTrpThrSerAlaHis;Glu1165_Cys1169del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689999"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3809,
          "referenceAllele": "GCTA",
          "start": 3805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.2:c.3415_3418del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Ser1139HisfsTer13",
        "hgvsWellDefined": "NP_001340881.1:p.[Ser1139_Thr1145delinsHisGlnLys;Asp1147_Gly1149del;Pro1151_Thr1163delinsLeuTrpThrSerAlaHis;Glu1165_Cys1169del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690000"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3806,
          "referenceAllele": "GCTA",
          "start": 3802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.2:c.3412_3415del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Ser1138HisfsTer13",
        "hgvsWellDefined": "NP_001340883.1:p.[Ser1138_Thr1144delinsHisGlnLys;Asp1146_Gly1148del;Pro1150_Thr1162delinsLeuTrpThrSerAlaHis;Glu1164_Cys1168del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690001"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3714,
          "referenceAllele": "GCTA",
          "start": 3710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.2:c.3412_3415del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Ser1138HisfsTer13",
        "hgvsWellDefined": "NP_001340884.1:p.[Ser1138_Thr1144delinsHisGlnLys;Asp1146_Gly1148del;Pro1150_Thr1162delinsLeuTrpThrSerAlaHis;Glu1164_Cys1168del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690002"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3666,
          "referenceAllele": "GCTA",
          "start": 3662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.2:c.3364_3367del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Ser1122HisfsTer13",
        "hgvsWellDefined": "NP_001340886.1:p.[Ser1122_Thr1128delinsHisGlnLys;Asp1130_Gly1132del;Pro1134_Thr1146delinsLeuTrpThrSerAlaHis;Glu1148_Cys1152del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690003"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3623,
          "referenceAllele": "GCTA",
          "start": 3619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.2:c.3364_3367del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Ser1122HisfsTer13",
        "hgvsWellDefined": "NP_001340887.1:p.[Ser1122_Thr1128delinsHisGlnLys;Asp1130_Gly1132del;Pro1134_Thr1146delinsLeuTrpThrSerAlaHis;Glu1148_Cys1152del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690004"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3755,
          "referenceAllele": "GCTA",
          "start": 3751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.2:c.3361_3364del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Ser1121HisfsTer13",
        "hgvsWellDefined": "NP_001340889.1:p.[Ser1121_Thr1127delinsHisGlnLys;Asp1129_Gly1131del;Pro1133_Thr1145delinsLeuTrpThrSerAlaHis;Glu1147_Cys1151del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690005"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3825,
          "referenceAllele": "GCTA",
          "start": 3821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.2:c.1006_1009del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Ser336HisfsTer13",
        "hgvsWellDefined": "NP_001340890.1:p.[Ser336_Thr342delinsHisGlnLys;Asp344_Gly346del;Pro348_Thr360delinsLeuTrpThrSerAlaHis;Glu362_Cys366del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690006"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3896,
          "referenceAllele": "GCTA",
          "start": 3892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.6:c.3415_3418del"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Ser1139HisfsTer13",
        "hgvsWellDefined": "NP_008851.3:p.[Ser1139_Thr1145delinsHisGlnLys;Asp1147_Gly1149del;Pro1151_Thr1163delinsLeuTrpThrSerAlaHis;Glu1165_Cys1169del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696855"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3804,
          "referenceAllele": "GCTA",
          "start": 3800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.2:n.3801_3804del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704821"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3929,
          "referenceAllele": "GCTA",
          "start": 3925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.4:c.3448_3451del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Ser1150HisfsTer13",
        "hgvsWellDefined": "NP_001159435.1:p.[Ser1150_Thr1156delinsHisGlnLys;Asp1158_Gly1160del;Pro1162_Thr1174delinsLeuTrpThrSerAlaHis;Glu1176_Cys1180del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713154",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.3448_3451del"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.3448_3451del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Ser1150HisfsTer13"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Ser1150HisfsTer13"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}