{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16041708",
  "communityStandardTitle": [
    "NM_000295.5(SERPINA1):c.1018del (p.Ala340LeufsTer12)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358271[alleleid]",
        "alleleId": 358271,
        "preferredName": "NM_000295.5(SERPINA1):c.1018del (p.Ala340fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370999",
        "RCV": [
          "RCV000411305"
        ],
        "variationId": 370999
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.94845848del?assembly=hg19",
        "id": "chr14:g.94845848del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.94379511del?assembly=hg38",
        "id": "chr14:g.94379511del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516929",
        "rs": 1057516929
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "",
          "end": 94379514,
          "referenceAllele": "C",
          "start": 94379513
        }
      ],
      "hgvs": [
        "NC_000014.9:g.94379514del",
        "CM000676.2:g.94379514del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "",
          "end": 94845851,
          "referenceAllele": "C",
          "start": 94845850
        }
      ],
      "hgvs": [
        "NC_000014.8:g.94845851del",
        "CM000676.1:g.94845851del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "",
          "end": 93915604,
          "referenceAllele": "C",
          "start": 93915603
        }
      ],
      "hgvs": [
        "NC_000014.7:g.93915604del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 16182,
          "referenceAllele": "G",
          "start": 16181
        }
      ],
      "hgvs": [
        "NG_008290.1:g.16182del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001004"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1065,
          "referenceAllele": "G",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000393087.9:c.1018del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376802.4:p.Ala340LeufsTer12",
        "hgvsWellDefined": "ENSP00000376802.4:p.[Ala340_Asp341del;Ser343_Val345del;Glu347_Ala349delinsSer;Leu351_Leu353delinsGly;Lys355_Val357delinsGlnArgArg;Lys359_Thr369delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753093",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393087.9:c.1018del"
          },
          "RefSeq": {
            "hgvs": "NM_000295.5:c.1018del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376802.4:p.Ala340LeufsTer12"
          },
          "RefSeq": {
            "hgvs": "NP_000286.3:p.Ala340LeufsTer12"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1170,
          "referenceAllele": "G",
          "start": 1169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000636712.1:c.1018del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490054.1:p.Ala340LeufsTer12",
        "hgvsWellDefined": "ENSP00000490054.1:p.[Ala340_Asp341del;Ser343_Val345del;Glu347_Ala349delinsSer;Leu351_Leu353delinsGly;Lys355_Val357delinsGlnArgArg;Lys359_Thr369delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763327"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1295,
          "referenceAllele": "G",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000355814.8:c.1018del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348068.4:p.Ala340LeufsTer12",
        "hgvsWellDefined": "ENSP00000348068.4:p.[Ala340_Asp341del;Ser343_Val345del;Glu347_Ala349delinsSer;Leu351_Leu353delinsGly;Lys355_Val357delinsGlnArgArg;Lys359_Thr369delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263559"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1283,
          "referenceAllele": "G",
          "start": 1282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000393087.8:c.1018del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376802.4:p.Ala340LeufsTer12",
        "hgvsWellDefined": "ENSP00000376802.4:p.[Ala340_Asp341del;Ser343_Val345del;Glu347_Ala349delinsSer;Leu351_Leu353delinsGly;Lys355_Val357delinsGlnArgArg;Lys359_Thr369delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275446"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1573,
          "referenceAllele": "G",
          "start": 1572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000393088.8:c.1018del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376803.4:p.Ala340LeufsTer12",
        "hgvsWellDefined": "ENSP00000376803.4:p.[Ala340_Asp341del;Ser343_Val345del;Glu347_Ala349delinsSer;Leu351_Leu353delinsGly;Lys355_Val357delinsGlnArgArg;Lys359_Thr369delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275447"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1052,
          "referenceAllele": "G",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000402629.1:c.1018del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386094.1:p.Ala340LeufsTer12",
        "hgvsWellDefined": "ENSP00000386094.1:p.[Ala340_Asp341del;Ser343_Val345del;Glu347_Ala349delinsSer;Leu351_Leu353delinsGly;Lys355_Val356delinsGlnArg;Ser358His]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279575"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1329,
          "referenceAllele": "G",
          "start": 1328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000404814.8:c.1018del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385960.4:p.Ala340LeufsTer12",
        "hgvsWellDefined": "ENSP00000385960.4:p.[Ala340_Asp341del;Ser343_Val345del;Glu347_Ala349delinsSer;Leu351_Leu353delinsGly;Lys355_Val357delinsGlnArgArg;Lys359_Thr369delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280169"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1399,
          "referenceAllele": "G",
          "start": 1398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000437397.5:c.1018del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408474.1:p.Ala340LeufsTer12",
        "hgvsWellDefined": "ENSP00000408474.1:p.[Ala340_Asp341del;Ser343_Val345del;Glu347_Ala349delinsSer;Leu351_Leu353delinsGly;Lys355_Val357delinsGlnArgArg;Lys359_Thr369delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294442"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1203,
          "referenceAllele": "G",
          "start": 1202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000440909.5:c.1018del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390299.1:p.Ala340LeufsTer12",
        "hgvsWellDefined": "ENSP00000390299.1:p.[Ala340_Asp341del;Ser343_Val345del;Glu347_Ala349delinsSer;Leu351_Leu353delinsGly;Lys355_Val357delinsGlnArgArg;Lys359_Thr369delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296122"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1591,
          "referenceAllele": "G",
          "start": 1590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000448921.5:c.1018del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416066.1:p.Ala340LeufsTer12",
        "hgvsWellDefined": "ENSP00000416066.1:p.[Ala340_Asp341del;Ser343_Val345del;Glu347_Ala349delinsSer;Leu351_Leu353delinsGly;Lys355_Val357delinsGlnArgArg;Lys359_Thr369delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299955"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1320,
          "referenceAllele": "G",
          "start": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000449399.7:c.1018del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416354.3:p.Ala340LeufsTer12",
        "hgvsWellDefined": "ENSP00000416354.3:p.[Ala340_Asp341del;Ser343_Val345del;Glu347_Ala349delinsSer;Leu351_Leu353delinsGly;Lys355_Val357delinsGlnArgArg;Lys359_Thr369delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300207"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1247,
          "referenceAllele": "G",
          "start": 1246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000489769.1:c.*317del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451525.1:n.*317del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS327757"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1279,
          "referenceAllele": "G",
          "start": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_000295.4:c.1018del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000286.3:p.Ala340LeufsTer12",
        "hgvsWellDefined": "NP_000286.3:p.[Ala340_Asp341del;Ser343_Val345del;Glu347_Ala349delinsSer;Leu351_Leu353delinsGly;Lys355_Val357delinsGlnArgArg;Lys359_Thr369delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006356"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1258,
          "referenceAllele": "G",
          "start": 1257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002235.2:c.1018del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002235.1:p.Ala340LeufsTer12",
        "hgvsWellDefined": "NP_001002235.1:p.[Ala340_Asp341del;Ser343_Val345del;Glu347_Ala349delinsSer;Leu351_Leu353delinsGly;Lys355_Val357delinsGlnArgArg;Lys359_Thr369delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007233"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1572,
          "referenceAllele": "G",
          "start": 1571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002236.2:c.1018del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002236.1:p.Ala340LeufsTer12",
        "hgvsWellDefined": "NP_001002236.1:p.[Ala340_Asp341del;Ser343_Val345del;Glu347_Ala349delinsSer;Leu351_Leu353delinsGly;Lys355_Val357delinsGlnArgArg;Lys359_Thr369delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007234"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1295,
          "referenceAllele": "G",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127700.1:c.1018del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121172.1:p.Ala340LeufsTer12",
        "hgvsWellDefined": "NP_001121172.1:p.[Ala340_Asp341del;Ser343_Val345del;Glu347_Ala349delinsSer;Leu351_Leu353delinsGly;Lys355_Val357delinsGlnArgArg;Lys359_Thr369delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011682"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1591,
          "referenceAllele": "G",
          "start": 1590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127701.1:c.1018del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121173.1:p.Ala340LeufsTer12",
        "hgvsWellDefined": "NP_001121173.1:p.[Ala340_Asp341del;Ser343_Val345del;Glu347_Ala349delinsSer;Leu351_Leu353delinsGly;Lys355_Val357delinsGlnArgArg;Lys359_Thr369delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011683"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1399,
          "referenceAllele": "G",
          "start": 1398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127702.1:c.1018del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121174.1:p.Ala340LeufsTer12",
        "hgvsWellDefined": "NP_001121174.1:p.[Ala340_Asp341del;Ser343_Val345del;Glu347_Ala349delinsSer;Leu351_Leu353delinsGly;Lys355_Val357delinsGlnArgArg;Lys359_Thr369delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011684"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1554,
          "referenceAllele": "G",
          "start": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127703.1:c.1018del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121175.1:p.Ala340LeufsTer12",
        "hgvsWellDefined": "NP_001121175.1:p.[Ala340_Asp341del;Ser343_Val345del;Glu347_Ala349delinsSer;Leu351_Leu353delinsGly;Lys355_Val357delinsGlnArgArg;Lys359_Thr369delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011685"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1551,
          "referenceAllele": "G",
          "start": 1550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127704.1:c.1018del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121176.1:p.Ala340LeufsTer12",
        "hgvsWellDefined": "NP_001121176.1:p.[Ala340_Asp341del;Ser343_Val345del;Glu347_Ala349delinsSer;Leu351_Leu353delinsGly;Lys355_Val357delinsGlnArgArg;Lys359_Thr369delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011686"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1569,
          "referenceAllele": "G",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127705.1:c.1018del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121177.1:p.Ala340LeufsTer12",
        "hgvsWellDefined": "NP_001121177.1:p.[Ala340_Asp341del;Ser343_Val345del;Glu347_Ala349delinsSer;Leu351_Leu353delinsGly;Lys355_Val357delinsGlnArgArg;Lys359_Thr369delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011687"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1362,
          "referenceAllele": "G",
          "start": 1361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127706.1:c.1018del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121178.1:p.Ala340LeufsTer12",
        "hgvsWellDefined": "NP_001121178.1:p.[Ala340_Asp341del;Ser343_Val345del;Glu347_Ala349delinsSer;Leu351_Leu353delinsGly;Lys355_Val357delinsGlnArgArg;Lys359_Thr369delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011688"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1359,
          "referenceAllele": "G",
          "start": 1358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127707.1:c.1018del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121179.1:p.Ala340LeufsTer12",
        "hgvsWellDefined": "NP_001121179.1:p.[Ala340_Asp341del;Ser343_Val345del;Glu347_Ala349delinsSer;Leu351_Leu353delinsGly;Lys355_Val357delinsGlnArgArg;Lys359_Thr369delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011689"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1459,
          "referenceAllele": "G",
          "start": 1458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "XM_017021370.1:c.1018del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876859.1:p.Ala340LeufsTer12",
        "hgvsWellDefined": "XP_016876859.1:p.[Ala340_Asp341del;Ser343_Val345del;Glu347_Ala349delinsSer;Leu351_Leu353delinsGly;Lys355_Val357delinsGlnArgArg;Lys359_Thr369delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572590"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1065,
          "referenceAllele": "G",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_000295.5:c.1018del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000286.3:p.Ala340LeufsTer12",
        "hgvsWellDefined": "NP_000286.3:p.[Ala340_Asp341del;Ser343_Val345del;Glu347_Ala349delinsSer;Leu351_Leu353delinsGly;Lys355_Val357delinsGlnArgArg;Lys359_Thr369delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674776",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393087.9:c.1018del"
          },
          "RefSeq": {
            "hgvs": "NM_000295.5:c.1018del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376802.4:p.Ala340LeufsTer12"
          },
          "RefSeq": {
            "hgvs": "NP_000286.3:p.Ala340LeufsTer12"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1201,
          "referenceAllele": "G",
          "start": 1200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002235.3:c.1018del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002235.1:p.Ala340LeufsTer12",
        "hgvsWellDefined": "NP_001002235.1:p.[Ala340_Asp341del;Ser343_Val345del;Glu347_Ala349delinsSer;Leu351_Leu353delinsGly;Lys355_Val357delinsGlnArgArg;Lys359_Thr369delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675068"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1515,
          "referenceAllele": "G",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002236.3:c.1018del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002236.1:p.Ala340LeufsTer12",
        "hgvsWellDefined": "NP_001002236.1:p.[Ala340_Asp341del;Ser343_Val345del;Glu347_Ala349delinsSer;Leu351_Leu353delinsGly;Lys355_Val357delinsGlnArgArg;Lys359_Thr369delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675069"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1238,
          "referenceAllele": "G",
          "start": 1237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127700.2:c.1018del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121172.1:p.Ala340LeufsTer12",
        "hgvsWellDefined": "NP_001121172.1:p.[Ala340_Asp341del;Ser343_Val345del;Glu347_Ala349delinsSer;Leu351_Leu353delinsGly;Lys355_Val357delinsGlnArgArg;Lys359_Thr369delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676934"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1534,
          "referenceAllele": "G",
          "start": 1533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127701.2:c.1018del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121173.1:p.Ala340LeufsTer12",
        "hgvsWellDefined": "NP_001121173.1:p.[Ala340_Asp341del;Ser343_Val345del;Glu347_Ala349delinsSer;Leu351_Leu353delinsGly;Lys355_Val357delinsGlnArgArg;Lys359_Thr369delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676935"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1342,
          "referenceAllele": "G",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127702.2:c.1018del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121174.1:p.Ala340LeufsTer12",
        "hgvsWellDefined": "NP_001121174.1:p.[Ala340_Asp341del;Ser343_Val345del;Glu347_Ala349delinsSer;Leu351_Leu353delinsGly;Lys355_Val357delinsGlnArgArg;Lys359_Thr369delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676936"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1497,
          "referenceAllele": "G",
          "start": 1496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127703.2:c.1018del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121175.1:p.Ala340LeufsTer12",
        "hgvsWellDefined": "NP_001121175.1:p.[Ala340_Asp341del;Ser343_Val345del;Glu347_Ala349delinsSer;Leu351_Leu353delinsGly;Lys355_Val357delinsGlnArgArg;Lys359_Thr369delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676937"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1494,
          "referenceAllele": "G",
          "start": 1493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127704.2:c.1018del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121176.1:p.Ala340LeufsTer12",
        "hgvsWellDefined": "NP_001121176.1:p.[Ala340_Asp341del;Ser343_Val345del;Glu347_Ala349delinsSer;Leu351_Leu353delinsGly;Lys355_Val357delinsGlnArgArg;Lys359_Thr369delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676938"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1512,
          "referenceAllele": "G",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127705.2:c.1018del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121177.1:p.Ala340LeufsTer12",
        "hgvsWellDefined": "NP_001121177.1:p.[Ala340_Asp341del;Ser343_Val345del;Glu347_Ala349delinsSer;Leu351_Leu353delinsGly;Lys355_Val357delinsGlnArgArg;Lys359_Thr369delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676939"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1305,
          "referenceAllele": "G",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127706.2:c.1018del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121178.1:p.Ala340LeufsTer12",
        "hgvsWellDefined": "NP_001121178.1:p.[Ala340_Asp341del;Ser343_Val345del;Glu347_Ala349delinsSer;Leu351_Leu353delinsGly;Lys355_Val357delinsGlnArgArg;Lys359_Thr369delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676940"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1302,
          "referenceAllele": "G",
          "start": 1301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127707.2:c.1018del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121179.1:p.Ala340LeufsTer12",
        "hgvsWellDefined": "NP_001121179.1:p.[Ala340_Asp341del;Ser343_Val345del;Glu347_Ala349delinsSer;Leu351_Leu353delinsGly;Lys355_Val357delinsGlnArgArg;Lys359_Thr369delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676941"
    }
  ],
  "type": "nucleotide"
}