{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16041709",
  "communityStandardTitle": [
    "NM_000295.5(SERPINA1):c.714del (p.Thr239ProfsTer2)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358272[alleleid]",
        "alleleId": 358272,
        "preferredName": "NM_000295.5(SERPINA1):c.714del (p.Thr239fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370385",
        "RCV": [
          "RCV000410206"
        ],
        "variationId": 370385
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.94847411del?assembly=hg19",
        "id": "chr14:g.94847411del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.94381074del?assembly=hg38",
        "id": "chr14:g.94381074del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516448",
        "rs": 1057516448
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "",
          "end": 94381075,
          "referenceAllele": "G",
          "start": 94381074
        }
      ],
      "hgvs": [
        "NC_000014.9:g.94381075del",
        "CM000676.2:g.94381075del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "",
          "end": 94847412,
          "referenceAllele": "G",
          "start": 94847411
        }
      ],
      "hgvs": [
        "NC_000014.8:g.94847412del",
        "CM000676.1:g.94847412del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "",
          "end": 93917165,
          "referenceAllele": "G",
          "start": 93917164
        }
      ],
      "hgvs": [
        "NC_000014.7:g.93917165del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 14619,
          "referenceAllele": "C",
          "start": 14618
        }
      ],
      "hgvs": [
        "NG_008290.1:g.14619del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001004"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 761,
          "referenceAllele": "C",
          "start": 760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000393087.9:c.714del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376802.4:p.Thr239ProfsTer2",
        "hgvsWellDefined": "ENSP00000376802.4:p.[Thr239_Val242del;Met244_Tyr268del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753093",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393087.9:c.714del"
          },
          "RefSeq": {
            "hgvs": "NM_000295.5:c.714del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376802.4:p.Thr239ProfsTer2"
          },
          "RefSeq": {
            "hgvs": "NP_000286.3:p.Thr239ProfsTer2"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 866,
          "referenceAllele": "C",
          "start": 865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000636712.1:c.714del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490054.1:p.Thr239ProfsTer2",
        "hgvsWellDefined": "ENSP00000490054.1:p.[Thr239_Val242del;Met244_Tyr268del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763327"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 991,
          "referenceAllele": "C",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000355814.8:c.714del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348068.4:p.Thr239ProfsTer2",
        "hgvsWellDefined": "ENSP00000348068.4:p.[Thr239_Val242del;Met244_Tyr268del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263559"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 979,
          "referenceAllele": "C",
          "start": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000393087.8:c.714del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376802.4:p.Thr239ProfsTer2",
        "hgvsWellDefined": "ENSP00000376802.4:p.[Thr239_Val242del;Met244_Tyr268del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275446"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1269,
          "referenceAllele": "C",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000393088.8:c.714del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376803.4:p.Thr239ProfsTer2",
        "hgvsWellDefined": "ENSP00000376803.4:p.[Thr239_Val242del;Met244_Tyr268del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275447"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 748,
          "referenceAllele": "C",
          "start": 747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000402629.1:c.714del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386094.1:p.Thr239ProfsTer2",
        "hgvsWellDefined": "ENSP00000386094.1:p.[Thr239_Val242del;Met244_Tyr268del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279575"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1025,
          "referenceAllele": "C",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000404814.8:c.714del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385960.4:p.Thr239ProfsTer2",
        "hgvsWellDefined": "ENSP00000385960.4:p.[Thr239_Val242del;Met244_Tyr268del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280169"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1095,
          "referenceAllele": "C",
          "start": 1094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000437397.5:c.714del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408474.1:p.Thr239ProfsTer2",
        "hgvsWellDefined": "ENSP00000408474.1:p.[Thr239_Val242del;Met244_Tyr268del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294442"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 899,
          "referenceAllele": "C",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000440909.5:c.714del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390299.1:p.Thr239ProfsTer2",
        "hgvsWellDefined": "ENSP00000390299.1:p.[Thr239_Val242del;Met244_Tyr268del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296122"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1287,
          "referenceAllele": "C",
          "start": 1286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000448921.5:c.714del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416066.1:p.Thr239ProfsTer2",
        "hgvsWellDefined": "ENSP00000416066.1:p.[Thr239_Val242del;Met244_Tyr268del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299955"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1016,
          "referenceAllele": "C",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000449399.7:c.714del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416354.3:p.Thr239ProfsTer2",
        "hgvsWellDefined": "ENSP00000416354.3:p.[Thr239_Val242del;Met244_Tyr268del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300207"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 723,
          "referenceAllele": "C",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000489769.1:c.714del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451525.1:p.Thr239ProfsTer2",
        "hgvsWellDefined": "ENSP00000451525.1:p.[Thr239_Val242del;Met244_Tyr268del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS327757"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 975,
          "referenceAllele": "C",
          "start": 974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_000295.4:c.714del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000286.3:p.Thr239ProfsTer2",
        "hgvsWellDefined": "NP_000286.3:p.[Thr239_Val242del;Met244_Tyr268del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006356"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 954,
          "referenceAllele": "C",
          "start": 953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002235.2:c.714del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002235.1:p.Thr239ProfsTer2",
        "hgvsWellDefined": "NP_001002235.1:p.[Thr239_Val242del;Met244_Tyr268del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007233"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1268,
          "referenceAllele": "C",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002236.2:c.714del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002236.1:p.Thr239ProfsTer2",
        "hgvsWellDefined": "NP_001002236.1:p.[Thr239_Val242del;Met244_Tyr268del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007234"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 991,
          "referenceAllele": "C",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127700.1:c.714del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121172.1:p.Thr239ProfsTer2",
        "hgvsWellDefined": "NP_001121172.1:p.[Thr239_Val242del;Met244_Tyr268del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011682"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1287,
          "referenceAllele": "C",
          "start": 1286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127701.1:c.714del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121173.1:p.Thr239ProfsTer2",
        "hgvsWellDefined": "NP_001121173.1:p.[Thr239_Val242del;Met244_Tyr268del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011683"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1095,
          "referenceAllele": "C",
          "start": 1094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127702.1:c.714del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121174.1:p.Thr239ProfsTer2",
        "hgvsWellDefined": "NP_001121174.1:p.[Thr239_Val242del;Met244_Tyr268del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011684"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1250,
          "referenceAllele": "C",
          "start": 1249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127703.1:c.714del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121175.1:p.Thr239ProfsTer2",
        "hgvsWellDefined": "NP_001121175.1:p.[Thr239_Val242del;Met244_Tyr268del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011685"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1247,
          "referenceAllele": "C",
          "start": 1246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127704.1:c.714del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121176.1:p.Thr239ProfsTer2",
        "hgvsWellDefined": "NP_001121176.1:p.[Thr239_Val242del;Met244_Tyr268del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011686"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1265,
          "referenceAllele": "C",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127705.1:c.714del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121177.1:p.Thr239ProfsTer2",
        "hgvsWellDefined": "NP_001121177.1:p.[Thr239_Val242del;Met244_Tyr268del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011687"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1058,
          "referenceAllele": "C",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127706.1:c.714del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121178.1:p.Thr239ProfsTer2",
        "hgvsWellDefined": "NP_001121178.1:p.[Thr239_Val242del;Met244_Tyr268del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011688"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1055,
          "referenceAllele": "C",
          "start": 1054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127707.1:c.714del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121179.1:p.Thr239ProfsTer2",
        "hgvsWellDefined": "NP_001121179.1:p.[Thr239_Val242del;Met244_Tyr268del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011689"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1155,
          "referenceAllele": "C",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "XM_017021370.1:c.714del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876859.1:p.Thr239ProfsTer2",
        "hgvsWellDefined": "XP_016876859.1:p.[Thr239_Val242del;Met244_Tyr268del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572590"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 761,
          "referenceAllele": "C",
          "start": 760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_000295.5:c.714del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000286.3:p.Thr239ProfsTer2",
        "hgvsWellDefined": "NP_000286.3:p.[Thr239_Val242del;Met244_Tyr268del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674776",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393087.9:c.714del"
          },
          "RefSeq": {
            "hgvs": "NM_000295.5:c.714del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376802.4:p.Thr239ProfsTer2"
          },
          "RefSeq": {
            "hgvs": "NP_000286.3:p.Thr239ProfsTer2"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 897,
          "referenceAllele": "C",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002235.3:c.714del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002235.1:p.Thr239ProfsTer2",
        "hgvsWellDefined": "NP_001002235.1:p.[Thr239_Val242del;Met244_Tyr268del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675068"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1211,
          "referenceAllele": "C",
          "start": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002236.3:c.714del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002236.1:p.Thr239ProfsTer2",
        "hgvsWellDefined": "NP_001002236.1:p.[Thr239_Val242del;Met244_Tyr268del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675069"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 934,
          "referenceAllele": "C",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127700.2:c.714del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121172.1:p.Thr239ProfsTer2",
        "hgvsWellDefined": "NP_001121172.1:p.[Thr239_Val242del;Met244_Tyr268del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676934"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1230,
          "referenceAllele": "C",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127701.2:c.714del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121173.1:p.Thr239ProfsTer2",
        "hgvsWellDefined": "NP_001121173.1:p.[Thr239_Val242del;Met244_Tyr268del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676935"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1038,
          "referenceAllele": "C",
          "start": 1037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127702.2:c.714del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121174.1:p.Thr239ProfsTer2",
        "hgvsWellDefined": "NP_001121174.1:p.[Thr239_Val242del;Met244_Tyr268del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676936"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1193,
          "referenceAllele": "C",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127703.2:c.714del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121175.1:p.Thr239ProfsTer2",
        "hgvsWellDefined": "NP_001121175.1:p.[Thr239_Val242del;Met244_Tyr268del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676937"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1190,
          "referenceAllele": "C",
          "start": 1189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127704.2:c.714del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121176.1:p.Thr239ProfsTer2",
        "hgvsWellDefined": "NP_001121176.1:p.[Thr239_Val242del;Met244_Tyr268del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676938"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1208,
          "referenceAllele": "C",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127705.2:c.714del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121177.1:p.Thr239ProfsTer2",
        "hgvsWellDefined": "NP_001121177.1:p.[Thr239_Val242del;Met244_Tyr268del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676939"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1001,
          "referenceAllele": "C",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127706.2:c.714del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121178.1:p.Thr239ProfsTer2",
        "hgvsWellDefined": "NP_001121178.1:p.[Thr239_Val242del;Met244_Tyr268del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676940"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 998,
          "referenceAllele": "C",
          "start": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127707.2:c.714del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121179.1:p.Thr239ProfsTer2",
        "hgvsWellDefined": "NP_001121179.1:p.[Thr239_Val242del;Met244_Tyr268del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676941"
    }
  ],
  "type": "nucleotide"
}