{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16041855",
  "communityStandardTitle": [
    "NM_000023.4(SGCA):c.846_847delinsT (p.Asp283ThrfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358456[alleleid]",
        "alleleId": 358456,
        "preferredName": "NM_000023.4(SGCA):c.846_847delinsT (p.Asp283fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370737",
        "RCV": [
          "RCV000411428"
        ],
        "variationId": 370737
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.48247602_48247603delinsT?assembly=hg19",
        "id": "chr17:g.48247602_48247603delinsT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.50170241_50170242delinsT?assembly=hg38",
        "id": "chr17:g.50170241_50170242delinsT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516729",
        "rs": 1057516729
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 50170242,
          "referenceAllele": "AG",
          "start": 50170240
        }
      ],
      "hgvs": [
        "NC_000017.11:g.50170241_50170242delinsT",
        "CM000679.2:g.50170241_50170242delinsT"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 48247603,
          "referenceAllele": "AG",
          "start": 48247601
        }
      ],
      "hgvs": [
        "NC_000017.10:g.48247602_48247603delinsT",
        "CM000679.1:g.48247602_48247603delinsT"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 45602602,
          "referenceAllele": "AG",
          "start": 45602600
        }
      ],
      "hgvs": [
        "NC_000017.9:g.45602601_45602602delinsT"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9238,
          "referenceAllele": "AG",
          "start": 9236
        }
      ],
      "hgvs": [
        "NG_008889.1:g.9237_9238delinsT",
        "LRG_203:g.9237_9238delinsT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001283"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 697,
          "referenceAllele": "AG",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000504073.2:c.696_697delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422030.2:p.Asp233ThrfsTer?",
        "hgvsWellDefined": "ENSP00000422030.2:p.[Asp233_Val246delinsThrValThrSerTrpTrpMetLeuTrpSerProSerTrpCys;Leu248_Met262delinsCysTrpTrpProCysPheSerProCysCysTrpProMetSerCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825507"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 309,
          "endIntronDirection": "-",
          "endIntronOffset": 397,
          "referenceAllele": "AG",
          "start": 309,
          "startIntronDirection": "-",
          "startIntronOffset": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000511303.6:n.310-399_310-398delinsT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825579"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 575,
          "endIntronDirection": "-",
          "endIntronOffset": 397,
          "referenceAllele": "AG",
          "start": 575,
          "startIntronDirection": "-",
          "startIntronOffset": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000512526.2:c.576-399_576-398delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426606.2:n.576-399_576-398delinsT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825592"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 727,
          "referenceAllele": "AG",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000682109.1:c.726_727delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508041.1:p.Asp243ThrfsTer?",
        "hgvsWellDefined": "ENSP00000508041.1:p.[Asp243_Val256delinsThrValThrSerTrpTrpMetLeuTrpSerProSerTrpCys;Leu258_Met272delinsCysTrpTrpProCysPheSerProCysCysTrpProMetSerCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827106"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1445,
          "referenceAllele": "AG",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000683226.1:n.1444_1445delinsT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828208"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 894,
          "endIntronDirection": "+",
          "endIntronOffset": 54,
          "referenceAllele": "AG",
          "start": 894,
          "startIntronDirection": "+",
          "startIntronOffset": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000683294.1:c.*59+53_*59+54delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508134.1:n.*59+53_*59+54delinsT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828275"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 213,
          "referenceAllele": "AG",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000683544.1:n.212_213delinsT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828518"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 883,
          "referenceAllele": "AG",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000262018.8:c.846_847delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262018.3:p.Asp283ThrfsTer?",
        "hgvsWellDefined": "ENSP00000262018.3:p.[Asp283_Val296delinsThrValThrSerTrpTrpMetLeuTrpSerProSerTrpCys;Leu298_Met312delinsCysTrpTrpProCysPheSerProCysCysTrpProMetSerCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742254",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262018.8:c.846_847delinsT"
          },
          "RefSeq": {
            "hgvs": "NM_000023.4:c.846_847delinsT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262018.3:p.Asp283ThrfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000014.1:p.Asp283ThrfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 883,
          "referenceAllele": "AG",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000262018.7:c.846_847delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262018.3:p.Asp283ThrfsTer?",
        "hgvsWellDefined": "ENSP00000262018.3:p.[Asp283_Val296delinsThrValThrSerTrpTrpMetLeuTrpSerProSerTrpCys;Leu298_Met312delinsCysTrpTrpProCysPheSerProCysCysTrpProMetSerCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250903"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 620,
          "endIntronDirection": "-",
          "endIntronOffset": 397,
          "referenceAllele": "AG",
          "start": 620,
          "startIntronDirection": "-",
          "startIntronOffset": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000344627.10:c.585-399_585-398delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345522.6:n.585-399_585-398delinsT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 164,
          "referenceAllele": "AG",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000504073.1:c.163_164delinsT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS336233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 305,
          "endIntronDirection": "-",
          "endIntronOffset": 397,
          "referenceAllele": "AG",
          "start": 305,
          "startIntronDirection": "-",
          "startIntronOffset": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000511303.5:c.306-399_306-398delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426104.1:n.306-399_306-398delinsT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341599"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 419,
          "endIntronDirection": "-",
          "endIntronOffset": 397,
          "referenceAllele": "AG",
          "start": 419,
          "startIntronDirection": "-",
          "startIntronOffset": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000512526.1:c.420-399_420-398delinsT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS342516"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 784,
          "endIntronDirection": "-",
          "endIntronOffset": 397,
          "referenceAllele": "AG",
          "start": 784,
          "startIntronDirection": "-",
          "startIntronOffset": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000513821.5:c.748-399_748-398delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426571.1:n.748-399_748-398delinsT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343465"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 375,
          "endIntronDirection": "-",
          "endIntronOffset": 397,
          "referenceAllele": "AG",
          "start": 375,
          "startIntronDirection": "-",
          "startIntronOffset": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000513942.5:n.376-399_376-398delinsT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS343547"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 883,
          "referenceAllele": "AG",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "NM_000023.2:c.846_847delinsT",
        "LRG_203t1:c.846_847delinsT"
      ],
      "proteinEffect": {
        "hgvs": "NP_000014.1:p.Asp283ThrfsTer?",
        "hgvsWellDefined": "NP_000014.1:p.[Asp283_Val296delinsThrValThrSerTrpTrpMetLeuTrpSerProSerTrpCys;Leu298_Met312delinsCysTrpTrpProCysPheSerProCysCysTrpProMetSerCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 620,
          "endIntronDirection": "-",
          "endIntronOffset": 397,
          "referenceAllele": "AG",
          "start": 620,
          "startIntronDirection": "-",
          "startIntronOffset": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "NM_001135697.1:c.585-399_585-398delinsT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129169.1:n.585-399_585-398delinsT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012470"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 913,
          "referenceAllele": "AG",
          "start": 911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_011525120.1:c.846_847delinsT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523422.1:p.Asp283ThrfsTer?",
        "hgvsWellDefined": "XP_011523422.1:p.[Asp283_Val296delinsThrValThrSerTrpTrpMetLeuTrpSerProSerTrpCys;Leu298_Met312delinsCysTrpTrpProCysPheSerProCysCysTrpProMetSerCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092239"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 763,
          "referenceAllele": "AG",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_011525121.1:c.696_697delinsT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523423.1:p.Asp233ThrfsTer?",
        "hgvsWellDefined": "XP_011523423.1:p.[Asp233_Val246delinsThrValThrSerTrpTrpMetLeuTrpSerProSerTrpCys;Leu248_Met262delinsCysTrpTrpProCysPheSerProCysCysTrpProMetSerCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092240"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 813,
          "endIntronDirection": "-",
          "endIntronOffset": 397,
          "referenceAllele": "AG",
          "start": 813,
          "startIntronDirection": "-",
          "startIntronOffset": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_011525122.1:c.748-399_748-398delinsT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523424.1:n.748-399_748-398delinsT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092241"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 650,
          "endIntronDirection": "-",
          "endIntronOffset": 397,
          "referenceAllele": "AG",
          "start": 650,
          "startIntronDirection": "-",
          "startIntronOffset": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_011525123.1:c.585-399_585-398delinsT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523425.1:n.585-399_585-398delinsT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092242"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 758,
          "referenceAllele": "AG",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_011525124.1:c.540_541delinsT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523426.1:p.Asp181ThrfsTer?",
        "hgvsWellDefined": "XP_011523426.1:p.[Asp181_Val194delinsThrValThrSerTrpTrpMetLeuTrpSerProSerTrpCys;Leu196_Met210delinsCysTrpTrpProCysPheSerProCysCysTrpProMetSerCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092243"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 813,
          "endIntronDirection": "-",
          "endIntronOffset": 397,
          "referenceAllele": "AG",
          "start": 813,
          "startIntronDirection": "-",
          "startIntronOffset": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XR_934517.1:n.814-399_814-398delinsT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129826"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 903,
          "referenceAllele": "AG",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "NM_000023.3:c.846_847delinsT"
      ],
      "proteinEffect": {
        "hgvs": "NP_000014.1:p.Asp283ThrfsTer?",
        "hgvsWellDefined": "NP_000014.1:p.[Asp283_Val296delinsThrValThrSerTrpTrpMetLeuTrpSerProSerTrpCys;Leu298_Met312delinsCysTrpTrpProCysPheSerProCysCysTrpProMetSerCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510736"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 640,
          "endIntronDirection": "-",
          "endIntronOffset": 397,
          "referenceAllele": "AG",
          "start": 640,
          "startIntronDirection": "-",
          "startIntronOffset": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "NM_001135697.2:c.585-399_585-398delinsT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129169.1:n.585-399_585-398delinsT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511492"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 803,
          "endIntronDirection": "-",
          "endIntronOffset": 397,
          "referenceAllele": "AG",
          "start": 803,
          "startIntronDirection": "-",
          "startIntronOffset": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "NR_135553.1:n.804-399_804-398delinsT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528312"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1369,
          "referenceAllele": "AG",
          "start": 1367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_011525120.2:c.1008_1009delinsT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523422.2:p.Asp337ThrfsTer?",
        "hgvsWellDefined": "XP_011523422.2:p.[Asp337_Val350delinsThrValThrSerTrpTrpMetLeuTrpSerProSerTrpCys;Leu352_Met366delinsCysTrpTrpProCysPheSerProCysCysTrpProMetSerCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1221,
          "referenceAllele": "AG",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_011525121.2:c.858_859delinsT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523423.2:p.Asp287ThrfsTer?",
        "hgvsWellDefined": "XP_011523423.2:p.[Asp287_Val300delinsThrValThrSerTrpTrpMetLeuTrpSerProSerTrpCys;Leu302_Met316delinsCysTrpTrpProCysPheSerProCysCysTrpProMetSerCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1269,
          "endIntronDirection": "-",
          "endIntronOffset": 397,
          "referenceAllele": "AG",
          "start": 1269,
          "startIntronDirection": "-",
          "startIntronOffset": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_011525122.2:c.910-399_910-398delinsT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523424.2:n.910-399_910-398delinsT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547745"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1106,
          "endIntronDirection": "-",
          "endIntronOffset": 397,
          "referenceAllele": "AG",
          "start": 1106,
          "startIntronDirection": "-",
          "startIntronOffset": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_011525123.2:c.747-399_747-398delinsT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523425.2:n.747-399_747-398delinsT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547746"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 724,
          "referenceAllele": "AG",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_011525124.2:c.540_541delinsT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523426.1:p.Asp181ThrfsTer?",
        "hgvsWellDefined": "XP_011523426.1:p.[Asp181_Val194delinsThrValThrSerTrpTrpMetLeuTrpSerProSerTrpCys;Leu196_Met210delinsCysTrpTrpProCysPheSerProCysCysTrpProMetSerCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 724,
          "referenceAllele": "AG",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_024450873.1:c.540_541delinsT"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306641.1:p.Asp181ThrfsTer?",
        "hgvsWellDefined": "XP_024306641.1:p.[Asp181_Val194delinsThrValThrSerTrpTrpMetLeuTrpSerProSerTrpCys;Leu196_Met210delinsCysTrpTrpProCysPheSerProCysCysTrpProMetSerCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1444,
          "referenceAllele": "AG",
          "start": 1442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XR_002958056.1:n.1443_1444delinsT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604183"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 883,
          "referenceAllele": "AG",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "NM_000023.4:c.846_847delinsT"
      ],
      "proteinEffect": {
        "hgvs": "NP_000014.1:p.Asp283ThrfsTer?",
        "hgvsWellDefined": "NP_000014.1:p.[Asp283_Val296delinsThrValThrSerTrpTrpMetLeuTrpSerProSerTrpCys;Leu298_Met312delinsCysTrpTrpProCysPheSerProCysCysTrpProMetSerCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662287",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262018.8:c.846_847delinsT"
          },
          "RefSeq": {
            "hgvs": "NM_000023.4:c.846_847delinsT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262018.3:p.Asp283ThrfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000014.1:p.Asp283ThrfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 620,
          "endIntronDirection": "-",
          "endIntronOffset": 397,
          "referenceAllele": "AG",
          "start": 620,
          "startIntronDirection": "-",
          "startIntronOffset": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "NM_001135697.3:c.585-399_585-398delinsT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129169.1:n.585-399_585-398delinsT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 783,
          "endIntronDirection": "-",
          "endIntronOffset": 397,
          "referenceAllele": "AG",
          "start": 783,
          "startIntronDirection": "-",
          "startIntronOffset": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "NR_135553.2:n.784-399_784-398delinsT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703679"
    }
  ],
  "type": "nucleotide"
}