{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10604807",
  "communityStandardTitle": [
    "NM_000434.4(NEU1):c.1230_1234delinsGCCAAA (p.Ser410ArgfsTer29)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=268709[alleleid]",
        "alleleId": 268709,
        "preferredName": "NM_000434.4(NEU1):c.1230_1234delinsGCCAAA (p.Ser410fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/284472",
        "RCV": [
          "RCV000269268"
        ],
        "variationId": 284472
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.31827510_31827514delinsTTTGGC?assembly=hg19",
        "id": "chr6:g.31827510_31827514delinsTTTGGC"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.31859733_31859737delinsTTTGGC?assembly=hg38",
        "id": "chr6:g.31859733_31859737delinsTTTGGC"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886042881",
        "rs": 886042881
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "TTTGGC",
          "end": 31859737,
          "referenceAllele": "AGACA",
          "start": 31859732
        }
      ],
      "hgvs": [
        "NC_000006.12:g.31859733_31859737delinsTTTGGC",
        "CM000668.2:g.31859733_31859737delinsTTTGGC"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "TTTGGC",
          "end": 31827514,
          "referenceAllele": "AGACA",
          "start": 31827509
        }
      ],
      "hgvs": [
        "NC_000006.11:g.31827510_31827514delinsTTTGGC",
        "CM000668.1:g.31827510_31827514delinsTTTGGC"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "TTTGGC",
          "end": 31935493,
          "referenceAllele": "AGACA",
          "start": 31935488
        }
      ],
      "hgvs": [
        "NC_000006.10:g.31935489_31935493delinsTTTGGC"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "GCCAAA",
          "end": 8200,
          "referenceAllele": "TGTCT",
          "start": 8195
        }
      ],
      "hgvs": [
        "NG_008201.1:g.8196_8200delinsGCCAAA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000943"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "GCCAAA",
          "end": 1279,
          "referenceAllele": "TGTCT",
          "start": 1274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007758",
      "geneNCBI_id": 4758,
      "geneSymbol": "NEU1",
      "hgvs": [
        "ENST00000375631.5:c.1230_1234delinsGCCAAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364782.4:p.Ser410ArgfsTer29",
        "hgvsWellDefined": "ENSP00000364782.4:p.[Ile409_Ser410insArgProLysTrpAspThrLeu;Val411_Tyr412delinsCysAlaThrAlaThr;Gly413_Thr414insValPheCysLeuGlnAspSerAlaPheArgAsn;Thr414_Leu415insGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751643",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375631.5:c.1230_1234delinsGCCAAA"
          },
          "RefSeq": {
            "hgvs": "NM_000434.4:c.1230_1234delinsGCCAAA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364782.4:p.Ser410ArgfsTer29"
          },
          "RefSeq": {
            "hgvs": "NP_000425.1:p.Ser410ArgfsTer29"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GCCAAA",
          "end": 2573,
          "referenceAllele": "TGTCT",
          "start": 2568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007758",
      "geneNCBI_id": 4758,
      "geneSymbol": "NEU1",
      "hgvs": [
        "ENST00000677054.1:n.2569_2573delinsGCCAAA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776722"
    },
    {
      "coordinates": [
        {
          "allele": "GCCAAA",
          "end": 1511,
          "referenceAllele": "TGTCT",
          "start": 1506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007758",
      "geneNCBI_id": 4758,
      "geneSymbol": "NEU1",
      "hgvs": [
        "ENST00000677512.1:n.1507_1511delinsGCCAAA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777173"
    },
    {
      "coordinates": [
        {
          "allele": "GCCAAA",
          "end": 1822,
          "referenceAllele": "TGTCT",
          "start": 1817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007758",
      "geneNCBI_id": 4758,
      "geneSymbol": "NEU1",
      "hgvs": [
        "ENST00000678869.1:n.1818_1822delinsGCCAAA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778506"
    },
    {
      "coordinates": [
        {
          "allele": "GCCAAA",
          "end": 1364,
          "referenceAllele": "TGTCT",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007758",
      "geneNCBI_id": 4758,
      "geneSymbol": "NEU1",
      "hgvs": [
        "ENST00000375631.4:c.1230_1234delinsGCCAAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364782.4:p.Ser410ArgfsTer29",
        "hgvsWellDefined": "ENSP00000364782.4:p.[Ile409_Ser410insArgProLysTrpAspThrLeu;Val411_Tyr412delinsCysAlaThrAlaThr;Gly413_Thr414insValPheCysLeuGlnAspSerAlaPheArgAsn;Thr414_Leu415insGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270793"
    },
    {
      "coordinates": [
        {
          "allele": "GCCAAA",
          "end": 1533,
          "referenceAllele": "TGTCT",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007758",
      "geneNCBI_id": 4758,
      "geneSymbol": "NEU1",
      "hgvs": [
        "ENST00000480384.1:n.1529_1533delinsGCCAAA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320546"
    },
    {
      "coordinates": [
        {
          "allele": "GCCAAA",
          "end": 1194,
          "referenceAllele": "TGTCT",
          "start": 1189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007758",
      "geneNCBI_id": 4758,
      "geneSymbol": "NEU1",
      "hgvs": [
        "ENST00000491768.5:c.*340_*344delinsGCCAAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433127.1:n.*340_*344delinsGCCAAA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS329296"
    },
    {
      "coordinates": [
        {
          "allele": "GCCAAA",
          "end": 2542,
          "referenceAllele": "TGTCT",
          "start": 2537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007758",
      "geneNCBI_id": 4758,
      "geneSymbol": "NEU1",
      "hgvs": [
        "ENST00000495807.1:n.2538_2542delinsGCCAAA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332433"
    },
    {
      "coordinates": [
        {
          "allele": "GCCAAA",
          "end": 1390,
          "referenceAllele": "TGTCT",
          "start": 1385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007758",
      "geneNCBI_id": 4758,
      "geneSymbol": "NEU1",
      "hgvs": [
        "NM_000434.3:c.1230_1234delinsGCCAAA"
      ],
      "proteinEffect": {
        "hgvs": "NP_000425.1:p.Ser410ArgfsTer29",
        "hgvsWellDefined": "NP_000425.1:p.[Ile409_Ser410insArgProLysTrpAspThrLeu;Val411_Tyr412delinsCysAlaThrAlaThr;Gly413_Thr414insValPheCysLeuGlnAspSerAlaPheArgAsn;Thr414_Leu415insGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006496"
    },
    {
      "coordinates": [
        {
          "allele": "GCCAAA",
          "end": 1279,
          "referenceAllele": "TGTCT",
          "start": 1274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007758",
      "geneNCBI_id": 4758,
      "geneSymbol": "NEU1",
      "hgvs": [
        "NM_000434.4:c.1230_1234delinsGCCAAA"
      ],
      "proteinEffect": {
        "hgvs": "NP_000425.1:p.Ser410ArgfsTer29",
        "hgvsWellDefined": "NP_000425.1:p.[Ile409_Ser410insArgProLysTrpAspThrLeu;Val411_Tyr412delinsCysAlaThrAlaThr;Gly413_Thr414insValPheCysLeuGlnAspSerAlaPheArgAsn;Thr414_Leu415insGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674845",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375631.5:c.1230_1234delinsGCCAAA"
          },
          "RefSeq": {
            "hgvs": "NM_000434.4:c.1230_1234delinsGCCAAA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364782.4:p.Ser410ArgfsTer29"
          },
          "RefSeq": {
            "hgvs": "NP_000425.1:p.Ser410ArgfsTer29"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}