{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16617003",
  "communityStandardTitle": [
    "NM_170707.4(LMNA):c.1819del (p.Val607TrpfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=404952[alleleid]",
        "alleleId": 404952,
        "preferredName": "NM_170707.4(LMNA):c.1819del (p.Val607fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/423384",
        "RCV": [
          "RCV000486027",
          "RCV001851252"
        ],
        "variationId": 423384
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156108399del?assembly=hg19",
        "id": "chr1:g.156108399del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156138608del?assembly=hg38",
        "id": "chr1:g.156138608del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064796394",
        "rs": 1064796394
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 156138608,
          "referenceAllele": "G",
          "start": 156138607
        }
      ],
      "hgvs": [
        "NC_000001.11:g.156138608del",
        "CM000663.2:g.156138608del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 156108399,
          "referenceAllele": "G",
          "start": 156108398
        }
      ],
      "hgvs": [
        "NC_000001.10:g.156108399del",
        "CM000663.1:g.156108399del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 154375023,
          "referenceAllele": "G",
          "start": 154375022
        }
      ],
      "hgvs": [
        "NC_000001.9:g.154375023del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 61036,
          "referenceAllele": "G",
          "start": 61035
        }
      ],
      "hgvs": [
        "NG_008692.2:g.61036del",
        "LRG_254:g.61036del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001170"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1570,
          "referenceAllele": "G",
          "start": 1569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000504687.7:c.1261del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426535.3:p.Val421TrpfsTer?",
        "hgvsWellDefined": "ENSP00000426535.3:p.[Val421_Gly423delinsTrpAlaAsp;Ile425del;Ser427_Ser430delinsProLeu;Ser432_Thr435delinsLeuLeuProPro;Thr437Ser;Tyr440_Ser442delinsLeuAlaAlaThrAla;Gly444Trp;Ser446_Gly447delinsAlaVal;Gly449_Ser450delinsValAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914182"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1943,
          "referenceAllele": "G",
          "start": 1942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000682650.1:c.1729del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506904.1:p.Val577TrpfsTer?",
        "hgvsWellDefined": "ENSP00000506904.1:p.[Val577_Gly579delinsTrpAlaAsp;Ile581del;Ser583_Ser586delinsProLeu;Ser588_Thr591delinsLeuLeuProPro;Thr593Ser;Tyr596_Ser598delinsLeuAlaAlaThrAla;Gly600Trp;Ser602_Gly603delinsAlaVal;Gly605_Ser606delinsValAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827639"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2034,
          "referenceAllele": "G",
          "start": 2033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000683032.1:c.1819del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506771.1:p.Val607TrpfsTer?",
        "hgvsWellDefined": "ENSP00000506771.1:p.[Val607_Gly609delinsTrpAlaAsp;Ile611del;Ser613_Ser616delinsProLeu;Ser618_Thr621delinsLeuLeuProPro;Thr623Ser;Tyr626_Ser628delinsLeuAlaAlaThrAla;Gly630Trp;Ser632_Gly633delinsAlaVal;Gly635_Ser636delinsValAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828019"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 163,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 163,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000683773.1:n.163+1del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828744"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2749,
          "referenceAllele": "G",
          "start": 2748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000684195.1:c.*911del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508220.1:n.*911del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829153"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2102,
          "referenceAllele": "G",
          "start": 2101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000361308.9:c.1819del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355292.6:p.Val607TrpfsTer?",
        "hgvsWellDefined": "ENSP00000355292.6:p.[Val607_Gly609delinsTrpAlaAsp;Ile611del;Ser613_Ser616delinsProLeu;Ser618_Thr621delinsLeuLeuProPro;Thr623Ser;Tyr626_Ser628delinsLeuAlaAlaThrAla;Gly630Trp;Ser632_Gly633delinsAlaVal;Gly635_Ser636delinsValAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749441"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2027,
          "referenceAllele": "G",
          "start": 2026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368300.9:c.1819del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357283.4:p.Val607TrpfsTer?",
        "hgvsWellDefined": "ENSP00000357283.4:p.[Val607_Gly609delinsTrpAlaAsp;Ile611del;Ser613_Ser616delinsProLeu;Ser618_Thr621delinsLeuLeuProPro;Thr623Ser;Tyr626_Ser628delinsLeuAlaAlaThrAla;Gly630Trp;Ser632_Gly633delinsAlaVal;Gly635_Ser636delinsValAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750181",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368300.9:c.1819del"
          },
          "RefSeq": {
            "hgvs": "NM_170707.4:c.1819del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357283.4:p.Val607TrpfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_733821.1:p.Val607TrpfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2032,
          "referenceAllele": "G",
          "start": 2031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674518.1:c.*1169del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502261.1:n.*1169del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774474"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2217,
          "referenceAllele": "G",
          "start": 2216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674600.1:c.*1618del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501666.1:n.*1618del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774544"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1938,
          "referenceAllele": "G",
          "start": 1937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675455.1:c.*1619del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501795.1:n.*1619del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775275"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2194,
          "referenceAllele": "G",
          "start": 2193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675667.1:c.1819del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501803.1:p.Val607TrpfsTer?",
        "hgvsWellDefined": "ENSP00000501803.1:p.[Val607_Gly609delinsTrpAlaAsp;Ile611del;Ser613_Ser616delinsProLeu;Ser618_Thr621delinsLeuLeuProPro;Thr623Ser;Tyr626_Ser628delinsLeuAlaAlaThrAla;Gly630Trp;Ser632_Gly633delinsAlaVal;Gly635_Ser636delinsValAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775456"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1880,
          "referenceAllele": "G",
          "start": 1879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675874.1:c.*1290del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501851.1:n.*1290del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775638"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2067,
          "referenceAllele": "G",
          "start": 2066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675881.1:c.*830del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501670.1:n.*830del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775644"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2038,
          "referenceAllele": "G",
          "start": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675939.1:c.1819del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502256.1:p.Val607TrpfsTer?",
        "hgvsWellDefined": "ENSP00000502256.1:p.[Val607_Gly609delinsTrpAlaAsp;Ile611del;Ser613_Ser616delinsProLeu;Ser618_Thr621delinsLeuLeuProPro;Thr623Ser;Tyr626_Ser628delinsLeuAlaAlaThrAla;Gly630Trp;Ser632_Gly633delinsAlaVal;Gly635_Ser636delinsValAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775693"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3422,
          "referenceAllele": "G",
          "start": 3421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675989.1:n.3422del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775733"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2169,
          "referenceAllele": "G",
          "start": 2168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676208.1:c.*922del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502468.1:n.*922del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775924"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2570,
          "referenceAllele": "G",
          "start": 2569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676385.2:c.1729del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502091.1:p.Val577TrpfsTer?",
        "hgvsWellDefined": "ENSP00000502091.1:p.[Val577_Gly579delinsTrpAlaAsp;Ile581del;Ser583_Ser586delinsProLeu;Ser588_Thr591delinsLeuLeuProPro;Thr593Ser;Tyr596_Ser598delinsLeuAlaAlaThrAla;Gly600Trp;Ser602_Gly603delinsAlaVal;Gly605_Ser606delinsValAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776075"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2821,
          "referenceAllele": "G",
          "start": 2820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676434.1:c.*1574del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501648.1:n.*1574del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776116"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1978,
          "referenceAllele": "G",
          "start": 1977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000347559.6:c.1729del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000292304.3:p.Val577TrpfsTer?",
        "hgvsWellDefined": "ENSP00000292304.3:p.[Val577_Gly579delinsTrpAlaAsp;Ile581del;Ser583_Ser586delinsProLeu;Ser588_Thr591delinsLeuLeuProPro;Thr593Ser;Tyr596_Ser598delinsLeuAlaAlaThrAla;Gly600Trp;Ser602_Gly603delinsAlaVal;Gly605_Ser606delinsValAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247316"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2015,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2015,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368299.7:c.1818+1del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS247280"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2031,
          "referenceAllele": "G",
          "start": 2030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368300.8:c.1819del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357283.4:p.Val607TrpfsTer?",
        "hgvsWellDefined": "ENSP00000357283.4:p.[Val607_Gly609delinsTrpAlaAsp;Ile611del;Ser613_Ser616delinsProLeu;Ser618_Thr621delinsLeuLeuProPro;Thr623Ser;Tyr626_Ser628delinsLeuAlaAlaThrAla;Gly630Trp;Ser632_Gly633delinsAlaVal;Gly635_Ser636delinsValAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247209"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1527,
          "referenceAllele": "G",
          "start": 1526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000448611.6:c.1483del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395597.2:p.Val495TrpfsTer?",
        "hgvsWellDefined": "ENSP00000395597.2:p.[Val495_Gly497delinsTrpAlaAsp;Ile499del;Ser501_Ser504delinsProLeu;Ser506_Thr509delinsLeuLeuProPro;Thr511Ser;Tyr514_Ser516delinsLeuAlaAlaThrAla;Gly518Trp;Ser520_Gly521delinsAlaVal;Gly523_Ser524delinsValAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247357"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1642,
          "referenceAllele": "G",
          "start": 1641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000473598.6:c.1522del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421821.1:p.Val508TrpfsTer?",
        "hgvsWellDefined": "ENSP00000421821.1:p.[Val508_Gly510delinsTrpAlaAsp;Ile512del;Ser514_Ser517delinsProLeu;Ser519_Thr522delinsLeuLeuProPro;Thr524Ser;Tyr527_Ser529delinsLeuAlaAlaThrAla;Gly531Trp;Ser533_Gly534delinsAlaVal;Gly536_Ser537delinsValAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247207"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2032,
          "referenceAllele": "G",
          "start": 2031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000496738.5:n.2032del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333133"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 403,
          "referenceAllele": "G",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000506981.1:n.403del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338393"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 607,
          "referenceAllele": "G",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000508500.1:c.607del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424977.1:p.Val203TrpfsTer?",
        "hgvsWellDefined": "ENSP00000424977.1:p.[Val203_Gly205delinsTrpAlaAsp;Ile207del;Ser209_Ser212delinsProLeu;Ser214_Thr217delinsLeuLeuProPro;Thr219Ser;Tyr222_Ser224delinsLeuAlaAlaThrAla;Gly226Trp;Ser228_Gly229delinsAlaVal;Gly231_Ser232delinsValAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247421"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1570,
          "referenceAllele": "G",
          "start": 1569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001257374.2:c.1483del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244303.1:p.Val495TrpfsTer?",
        "hgvsWellDefined": "NP_001244303.1:p.[Val495_Gly497delinsTrpAlaAsp;Ile499del;Ser501_Ser504delinsProLeu;Ser506_Thr509delinsLeuLeuProPro;Thr511Ser;Tyr514_Ser516delinsLeuAlaAlaThrAla;Gly518Trp;Ser520_Gly521delinsAlaVal;Gly523_Ser524delinsValAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019616"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2067,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2067,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282626.1:c.1818+1del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS022106"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2068,
          "referenceAllele": "G",
          "start": 2067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170707.3:c.1819del"
      ],
      "proteinEffect": {
        "hgvs": "NP_733821.1:p.Val607TrpfsTer?",
        "hgvsWellDefined": "NP_733821.1:p.[Val607_Gly609delinsTrpAlaAsp;Ile611del;Ser613_Ser616delinsProLeu;Ser618_Thr621delinsLeuLeuProPro;Thr623Ser;Tyr626_Ser628delinsLeuAlaAlaThrAla;Gly630Trp;Ser632_Gly633delinsAlaVal;Gly635_Ser636delinsValAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042563"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1978,
          "referenceAllele": "G",
          "start": 1977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170708.3:c.1729del"
      ],
      "proteinEffect": {
        "hgvs": "NP_733822.1:p.Val577TrpfsTer?",
        "hgvsWellDefined": "NP_733822.1:p.[Val577_Gly579delinsTrpAlaAsp;Ile581del;Ser583_Ser586delinsProLeu;Ser588_Thr591delinsLeuLeuProPro;Thr593Ser;Tyr596_Ser598delinsLeuAlaAlaThrAla;Gly600Trp;Ser602_Gly603delinsAlaVal;Gly605_Ser606delinsValAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042564"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1565,
          "referenceAllele": "G",
          "start": 1564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509533.1:c.1483del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507835.1:p.Val495TrpfsTer?",
        "hgvsWellDefined": "XP_011507835.1:p.[Val495_Gly497delinsTrpAlaAsp;Ile499del;Ser501_Ser504delinsProLeu;Ser506_Thr509delinsLeuLeuProPro;Thr511Ser;Tyr514_Ser516delinsLeuAlaAlaThrAla;Gly518Trp;Ser520_Gly521delinsAlaVal;Gly523_Ser524delinsValAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076800"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1503,
          "referenceAllele": "G",
          "start": 1502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509534.1:c.1195del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507836.1:p.Val399TrpfsTer?",
        "hgvsWellDefined": "XP_011507836.1:p.[Val399_Gly401delinsTrpAlaAsp;Ile403del;Ser405_Ser408delinsProLeu;Ser410_Thr413delinsLeuLeuProPro;Thr415Ser;Tyr418_Ser420delinsLeuAlaAlaThrAla;Gly422Trp;Ser424_Gly425delinsAlaVal;Gly427_Ser428delinsValAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076801"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2108,
          "referenceAllele": "G",
          "start": 2107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XR_921781.1:n.2108del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118967"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1605,
          "referenceAllele": "G",
          "start": 1604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509534.2:c.1195del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507836.1:p.Val399TrpfsTer?",
        "hgvsWellDefined": "XP_011507836.1:p.[Val399_Gly401delinsTrpAlaAsp;Ile403del;Ser405_Ser408delinsProLeu;Ser410_Thr413delinsLeuLeuProPro;Thr415Ser;Tyr418_Ser420delinsLeuAlaAlaThrAla;Gly422Trp;Ser424_Gly425delinsAlaVal;Gly427_Ser428delinsValAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541310"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2106,
          "referenceAllele": "G",
          "start": 2105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XR_921781.2:n.2106del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606864"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2027,
          "referenceAllele": "G",
          "start": 2026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170707.4:c.1819del"
      ],
      "proteinEffect": {
        "hgvs": "NP_733821.1:p.Val607TrpfsTer?",
        "hgvsWellDefined": "NP_733821.1:p.[Val607_Gly609delinsTrpAlaAsp;Ile611del;Ser613_Ser616delinsProLeu;Ser618_Thr621delinsLeuLeuProPro;Thr623Ser;Tyr626_Ser628delinsLeuAlaAlaThrAla;Gly630Trp;Ser632_Gly633delinsAlaVal;Gly635_Ser636delinsValAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672588",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368300.9:c.1819del"
          },
          "RefSeq": {
            "hgvs": "NM_170707.4:c.1819del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357283.4:p.Val607TrpfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_733821.1:p.Val607TrpfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1517,
          "referenceAllele": "G",
          "start": 1516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001257374.3:c.1483del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244303.1:p.Val495TrpfsTer?",
        "hgvsWellDefined": "NP_001244303.1:p.[Val495_Gly497delinsTrpAlaAsp;Ile499del;Ser501_Ser504delinsProLeu;Ser506_Thr509delinsLeuLeuProPro;Thr511Ser;Tyr514_Ser516delinsLeuAlaAlaThrAla;Gly518Trp;Ser520_Gly521delinsAlaVal;Gly523_Ser524delinsValAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680726"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2026,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2026,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282626.2:c.1818+1del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS681840"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1937,
          "referenceAllele": "G",
          "start": 1936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170708.4:c.1729del"
      ],
      "proteinEffect": {
        "hgvs": "NP_733822.1:p.Val577TrpfsTer?",
        "hgvsWellDefined": "NP_733822.1:p.[Val577_Gly579delinsTrpAlaAsp;Ile581del;Ser583_Ser586delinsProLeu;Ser588_Thr591delinsLeuLeuProPro;Thr593Ser;Tyr596_Ser598delinsLeuAlaAlaThrAla;Gly600Trp;Ser602_Gly603delinsAlaVal;Gly605_Ser606delinsValAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729502"
    }
  ],
  "type": "nucleotide"
}