{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA114763",
  "communityStandardTitle": [
    "NM_000642.3(AGL):c.3965del (p.Val1322AlafsTer27)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16142[alleleid]",
        "alleleId": 16142,
        "preferredName": "NM_000642.3(AGL):c.3965del (p.Val1322fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1103",
        "RCV": [
          "RCV000001162",
          "RCV000020378",
          "RCV000723821"
        ],
        "variationId": 1103
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-100379097-GT-G",
        "id": "1-100379097-GT-G",
        "variant": "1:100379097 GT / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.100379098del?assembly=hg19",
        "id": "chr1:g.100379098del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.100379098delT?assembly=hg19",
        "id": "chr1:g.100379098delT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.99913542del?assembly=hg38",
        "id": "chr1:g.99913542del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/113994132",
        "rs": 113994132
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-100379097-GT-G?dataset=gnomad_r2_1",
        "id": "1-100379097-GT-G",
        "variant": "1:100379097 GT / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-99913541-GT-G?dataset=gnomad_r3",
        "id": "1-99913541-GT-G",
        "variant": "1:99913541 GT / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-99913541-GT-G?dataset=gnomad_r4",
        "id": "1-99913541-GT-G",
        "variant": "1:99913541 GT / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 99913542,
          "referenceAllele": "T",
          "start": 99913541
        }
      ],
      "hgvs": [
        "NC_000001.11:g.99913542del",
        "CM000663.2:g.99913542del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 100379098,
          "referenceAllele": "T",
          "start": 100379097
        }
      ],
      "hgvs": [
        "NC_000001.10:g.100379098del",
        "CM000663.1:g.100379098del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 100151686,
          "referenceAllele": "T",
          "start": 100151685
        }
      ],
      "hgvs": [
        "NC_000001.9:g.100151686del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 68459,
          "referenceAllele": "T",
          "start": 68458
        }
      ],
      "hgvs": [
        "NG_012865.1:g.68459del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002592"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4088,
          "referenceAllele": "T",
          "start": 4087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000361915.8:c.3965del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355106.3:p.Val1322AlafsTer27",
        "hgvsWellDefined": "ENSP00000355106.3:p.[Val1322_Arg1329delinsAlaHisMetMetSerGlyThrGlu;Ile1331_Leu1338delinsTyrLysThrThrLeuLysSerTyr;His1340_Asp1344delinsMetPhe;Ser1346_Asp1347delinsLysThr;Asn1349_Lys1351delinsGlnIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749563",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361915.8:c.3965del"
          },
          "RefSeq": {
            "hgvs": "NM_000642.3:c.3965del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355106.3:p.Val1322AlafsTer27"
          },
          "RefSeq": {
            "hgvs": "NP_000633.2:p.Val1322AlafsTer27"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4176,
          "referenceAllele": "T",
          "start": 4175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000637337.1:n.4176del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763793"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4443,
          "referenceAllele": "T",
          "start": 4442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000294724.8:c.3965del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294724.4:p.Val1322AlafsTer27",
        "hgvsWellDefined": "ENSP00000294724.4:p.[Val1322_Arg1329delinsAlaHisMetMetSerGlyThrGlu;Ile1331_Leu1338delinsTyrLysThrThrLeuLysSerTyr;His1340_Asp1344delinsMetPhe;Ser1346_Asp1347delinsLysThr;Asn1349_Lys1351delinsGlnIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253994"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4176,
          "referenceAllele": "T",
          "start": 4175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000361302.7:c.3917del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354971.3:p.Val1306AlafsTer27",
        "hgvsWellDefined": "ENSP00000354971.3:p.[Val1306_Arg1313delinsAlaHisMetMetSerGlyThrGlu;Ile1315_Leu1322delinsTyrLysThrThrLeuLysSerTyr;His1324_Asp1328delinsMetPhe;Ser1330_Asp1331delinsLysThr;Asn1333_Lys1335delinsGlnIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265423"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4176,
          "referenceAllele": "T",
          "start": 4175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000361522.4:c.3914del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354635.4:p.Val1305AlafsTer27",
        "hgvsWellDefined": "ENSP00000354635.4:p.[Val1305_Arg1312delinsAlaHisMetMetSerGlyThrGlu;Ile1314_Leu1321delinsTyrLysThrThrLeuLysSerTyr;His1323_Asp1327delinsMetPhe;Ser1329_Asp1330delinsLysThr;Asn1332_Lys1334delinsGlnIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265519"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4365,
          "referenceAllele": "T",
          "start": 4364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000361915.7:c.3965del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355106.3:p.Val1322AlafsTer27",
        "hgvsWellDefined": "ENSP00000355106.3:p.[Val1322_Arg1329delinsAlaHisMetMetSerGlyThrGlu;Ile1331_Leu1338delinsTyrLysThrThrLeuLysSerTyr;His1340_Asp1344delinsMetPhe;Ser1346_Asp1347delinsLysThr;Asn1349_Lys1351delinsGlnIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265709"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3917,
          "referenceAllele": "T",
          "start": 3916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000370161.6:c.3917del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359180.2:p.Val1306AlafsTer27",
        "hgvsWellDefined": "ENSP00000359180.2:p.[Val1306_Arg1313delinsAlaHisMetMetSerGlyThrGlu;Ile1315_Leu1322delinsTyrLysThrThrLeuLysSerTyr;His1324_Asp1328delinsMetPhe;Ser1330_Asp1331delinsLysThr;Asn1333_Lys1335delinsGlnIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267908"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4163,
          "referenceAllele": "T",
          "start": 4162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000370163.7:c.3965del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359182.3:p.Val1322AlafsTer27",
        "hgvsWellDefined": "ENSP00000359182.3:p.[Val1322_Arg1329delinsAlaHisMetMetSerGlyThrGlu;Ile1331_Leu1338delinsTyrLysThrThrLeuLysSerTyr;His1340_Asp1344delinsMetPhe;Ser1346_Asp1347delinsLysThr;Asn1349_Lys1351delinsGlnIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267910"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4103,
          "referenceAllele": "T",
          "start": 4102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000370165.7:c.3965del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359184.3:p.Val1322AlafsTer27",
        "hgvsWellDefined": "ENSP00000359184.3:p.[Val1322_Arg1329delinsAlaHisMetMetSerGlyThrGlu;Ile1331_Leu1338delinsTyrLysThrThrLeuLysSerTyr;His1340_Asp1344delinsMetPhe;Ser1346_Asp1347delinsLysThr;Asn1349_Lys1351delinsGlnIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267911"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4443,
          "referenceAllele": "T",
          "start": 4442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000028.2:c.3965del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000019.2:p.Val1322AlafsTer27",
        "hgvsWellDefined": "NP_000019.2:p.[Val1322_Arg1329delinsAlaHisMetMetSerGlyThrGlu;Ile1331_Leu1338delinsTyrLysThrThrLeuLysSerTyr;His1340_Asp1344delinsMetPhe;Ser1346_Asp1347delinsLysThr;Asn1349_Lys1351delinsGlnIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006093"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4365,
          "referenceAllele": "T",
          "start": 4364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000642.2:c.3965del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000633.2:p.Val1322AlafsTer27",
        "hgvsWellDefined": "NP_000633.2:p.[Val1322_Arg1329delinsAlaHisMetMetSerGlyThrGlu;Ile1331_Leu1338delinsTyrLysThrThrLeuLysSerTyr;His1340_Asp1344delinsMetPhe;Ser1346_Asp1347delinsLysThr;Asn1349_Lys1351delinsGlnIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006693"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4163,
          "referenceAllele": "T",
          "start": 4162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000643.2:c.3965del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000634.2:p.Val1322AlafsTer27",
        "hgvsWellDefined": "NP_000634.2:p.[Val1322_Arg1329delinsAlaHisMetMetSerGlyThrGlu;Ile1331_Leu1338delinsTyrLysThrThrLeuLysSerTyr;His1340_Asp1344delinsMetPhe;Ser1346_Asp1347delinsLysThr;Asn1349_Lys1351delinsGlnIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006694"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4103,
          "referenceAllele": "T",
          "start": 4102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000644.2:c.3965del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000635.2:p.Val1322AlafsTer27",
        "hgvsWellDefined": "NP_000635.2:p.[Val1322_Arg1329delinsAlaHisMetMetSerGlyThrGlu;Ile1331_Leu1338delinsTyrLysThrThrLeuLysSerTyr;His1340_Asp1344delinsMetPhe;Ser1346_Asp1347delinsLysThr;Asn1349_Lys1351delinsGlnIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006695"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4176,
          "referenceAllele": "T",
          "start": 4175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000645.2:c.3914del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000636.2:p.Val1305AlafsTer27",
        "hgvsWellDefined": "NP_000636.2:p.[Val1305_Arg1312delinsAlaHisMetMetSerGlyThrGlu;Ile1314_Leu1321delinsTyrLysThrThrLeuLysSerTyr;His1323_Asp1327delinsMetPhe;Ser1329_Asp1330delinsLysThr;Asn1332_Lys1334delinsGlnIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006696"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4176,
          "referenceAllele": "T",
          "start": 4175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000646.2:c.3917del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000637.2:p.Val1306AlafsTer27",
        "hgvsWellDefined": "NP_000637.2:p.[Val1306_Arg1313delinsAlaHisMetMetSerGlyThrGlu;Ile1315_Leu1322delinsTyrLysThrThrLeuLysSerTyr;His1324_Asp1328delinsMetPhe;Ser1330_Asp1331delinsLysThr;Asn1333_Lys1335delinsGlnIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006697"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4058,
          "referenceAllele": "T",
          "start": 4057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "XM_005270557.1:c.3965del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270614.1:p.Val1322AlafsTer27",
        "hgvsWellDefined": "XP_005270614.1:p.[Val1322_Arg1329delinsAlaHisMetMetSerGlyThrGlu;Ile1331_Leu1338delinsTyrLysThrThrLeuLysSerTyr;His1340_Asp1344delinsMetPhe;Ser1346_Asp1347delinsLysThr;Asn1349_Lys1351delinsGlnIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066566"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1317,
          "endIntronDirection": "-",
          "endIntronOffset": 324,
          "referenceAllele": "A",
          "start": 1317,
          "startIntronDirection": "-",
          "startIntronOffset": 325
        }
      ],
      "hgvs": [
        "XR_947626.1:n.1318-325del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141206"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1206,
          "endIntronDirection": "-",
          "endIntronOffset": 324,
          "referenceAllele": "A",
          "start": 1206,
          "startIntronDirection": "-",
          "startIntronOffset": 325
        }
      ],
      "hgvs": [
        "XR_947627.1:n.1207-325del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141207"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1311,
          "endIntronDirection": "-",
          "endIntronOffset": 324,
          "referenceAllele": "A",
          "start": 1311,
          "startIntronDirection": "-",
          "startIntronOffset": 325
        }
      ],
      "hgvs": [
        "XR_947628.1:n.1312-325del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141208"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1249,
          "endIntronDirection": "-",
          "endIntronOffset": 324,
          "referenceAllele": "A",
          "start": 1249,
          "startIntronDirection": "-",
          "startIntronOffset": 325
        }
      ],
      "hgvs": [
        "XR_947630.1:n.1250-325del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141210"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1135,
          "endIntronDirection": "-",
          "endIntronOffset": 324,
          "referenceAllele": "A",
          "start": 1135,
          "startIntronDirection": "-",
          "startIntronOffset": 325
        }
      ],
      "hgvs": [
        "XR_947632.1:n.1136-325del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141212"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1246,
          "endIntronDirection": "-",
          "endIntronOffset": 324,
          "referenceAllele": "A",
          "start": 1246,
          "startIntronDirection": "-",
          "startIntronOffset": 325
        }
      ],
      "hgvs": [
        "XR_947633.1:n.1247-325del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141213"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 660,
          "endIntronDirection": "-",
          "endIntronOffset": 324,
          "referenceAllele": "A",
          "start": 660,
          "startIntronDirection": "-",
          "startIntronOffset": 325
        }
      ],
      "hgvs": [
        "XR_947634.1:n.661-325del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141214"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 728,
          "endIntronDirection": "-",
          "endIntronOffset": 324,
          "referenceAllele": "A",
          "start": 728,
          "startIntronDirection": "-",
          "startIntronOffset": 325
        }
      ],
      "hgvs": [
        "XR_947635.1:n.729-325del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141215"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4058,
          "referenceAllele": "T",
          "start": 4057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "XM_005270557.2:c.3965del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270614.1:p.Val1322AlafsTer27",
        "hgvsWellDefined": "XP_005270614.1:p.[Val1322_Arg1329delinsAlaHisMetMetSerGlyThrGlu;Ile1331_Leu1338delinsTyrLysThrThrLeuLysSerTyr;His1340_Asp1344delinsMetPhe;Ser1346_Asp1347delinsLysThr;Asn1349_Lys1351delinsGlnIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536956"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2293,
          "referenceAllele": "T",
          "start": 2292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "XM_017000501.2:c.2225del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855990.1:p.Val742AlafsTer27",
        "hgvsWellDefined": "XP_016855990.1:p.[Val742_Arg749delinsAlaHisMetMetSerGlyThrGlu;Ile751_Leu758delinsTyrLysThrThrLeuLysSerTyr;His760_Asp764delinsMetPhe;Ser766_Asp767delinsLysThr;Asn769_Lys771delinsGlnIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556866"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4088,
          "referenceAllele": "T",
          "start": 4087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000642.3:c.3965del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000633.2:p.Val1322AlafsTer27",
        "hgvsWellDefined": "NP_000633.2:p.[Val1322_Arg1329delinsAlaHisMetMetSerGlyThrGlu;Ile1331_Leu1338delinsTyrLysThrThrLeuLysSerTyr;His1340_Asp1344delinsMetPhe;Ser1346_Asp1347delinsLysThr;Asn1349_Lys1351delinsGlnIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662520",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361915.8:c.3965del"
          },
          "RefSeq": {
            "hgvs": "NM_000642.3:c.3965del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355106.3:p.Val1322AlafsTer27"
          },
          "RefSeq": {
            "hgvs": "NP_000633.2:p.Val1322AlafsTer27"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}