{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA357169",
  "communityStandardTitle": [
    "NM_017671.5(FERMT1):c.1161del (p.Ala388LeufsTer14)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.6069715del?assembly=hg19",
        "id": "chr20:g.6069715del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.6089068del?assembly=hg38",
        "id": "chr20:g.6089068del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/869312729",
        "rs": 869312729
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-6089067-CT-C?dataset=gnomad_r4",
        "id": "20-6089067-CT-C",
        "variant": "20:6089067 CT / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "",
          "end": 6089071,
          "referenceAllele": "T",
          "start": 6089070
        }
      ],
      "hgvs": [
        "NC_000020.11:g.6089071del",
        "CM000682.2:g.6089071del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "",
          "end": 6069718,
          "referenceAllele": "T",
          "start": 6069717
        }
      ],
      "hgvs": [
        "NC_000020.10:g.6069718del",
        "CM000682.1:g.6069718del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "",
          "end": 6017718,
          "referenceAllele": "T",
          "start": 6017717
        }
      ],
      "hgvs": [
        "NC_000020.9:g.6017718del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 39477,
          "referenceAllele": "A",
          "start": 39476
        }
      ],
      "hgvs": [
        "NG_016213.1:g.39477del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003018"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4680,
          "referenceAllele": "A",
          "start": 4679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015889",
      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
        "ENST00000699095.1:c.1161del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514127.1:p.Ala388LeufsTer14",
        "hgvsWellDefined": "ENSP00000514127.1:p.[Ala388_Phe394delinsLeuSerAsnAsn;Phe396_Thr399delinsGlyLeu;Ile401_Phe404delinsLeu;Asn406_Glu413delinsThrHis;Glu416_Leu418del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910037"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1623,
          "referenceAllele": "A",
          "start": 1622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015889",
      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
        "ENST00000699096.1:n.1623del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910038"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1436,
          "referenceAllele": "A",
          "start": 1435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015889",
      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
        "ENST00000217289.9:c.1161del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000217289.4:p.Ala388LeufsTer14",
        "hgvsWellDefined": "ENSP00000217289.4:p.[Ala388_Phe394delinsLeuSerAsnAsn;Phe396_Thr399delinsGlyLeu;Ile401_Phe404delinsLeu;Asn406_Glu413delinsThrHis;Glu416_Leu418del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740361",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000217289.9:c.1161del"
          },
          "RefSeq": {
            "hgvs": "NM_017671.5:c.1161del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000217289.4:p.Ala388LeufsTer14"
          },
          "RefSeq": {
            "hgvs": "NP_060141.3:p.Ala388LeufsTer14"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1950,
          "referenceAllele": "A",
          "start": 1949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015889",
      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
        "ENST00000217289.8:c.1161del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000217289.4:p.Ala388LeufsTer14",
        "hgvsWellDefined": "ENSP00000217289.4:p.[Ala388_Phe394delinsLeuSerAsnAsn;Phe396_Thr399delinsGlyLeu;Ile401_Phe404delinsLeu;Asn406_Glu413delinsThrHis;Glu416_Leu418del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248082"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 121,
          "referenceAllele": "A",
          "start": 120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015889",
      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
        "ENST00000478194.1:n.121del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318851"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1205,
          "referenceAllele": "A",
          "start": 1204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015889",
      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
        "ENST00000536936.1:c.390del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441063.1:p.Ala131LeufsTer14",
        "hgvsWellDefined": "ENSP00000441063.1:p.[Ala131_Phe137delinsLeuSerAsnAsn;Phe139_Thr142delinsGlyLeu;Ile144_Phe147delinsLeu;Asn149_Glu156delinsThrHis;Glu159_Leu161del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360511"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1950,
          "referenceAllele": "A",
          "start": 1949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015889",
      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
        "NM_017671.4:c.1161del"
      ],
      "proteinEffect": {
        "hgvs": "NP_060141.3:p.Ala388LeufsTer14",
        "hgvsWellDefined": "NP_060141.3:p.[Ala388_Phe394delinsLeuSerAsnAsn;Phe396_Thr399delinsGlyLeu;Ile401_Phe404delinsLeu;Asn406_Glu413delinsThrHis;Glu416_Leu418del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035094"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2018,
          "referenceAllele": "A",
          "start": 2017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015889",
      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
        "XM_024451935.1:c.1161del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307703.1:p.Ala388LeufsTer14",
        "hgvsWellDefined": "XP_024307703.1:p.[Ala388_Phe394delinsLeuSerAsnAsn;Phe396_Thr399delinsGlyLeu;Ile401_Phe404delinsLeu;Asn406_Glu413delinsThrHis;Glu416_Leu418del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585442"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1436,
          "referenceAllele": "A",
          "start": 1435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015889",
      "geneNCBI_id": 55612,
      "geneSymbol": "FERMT1",
      "hgvs": [
        "NM_017671.5:c.1161del"
      ],
      "proteinEffect": {
        "hgvs": "NP_060141.3:p.Ala388LeufsTer14",
        "hgvsWellDefined": "NP_060141.3:p.[Ala388_Phe394delinsLeuSerAsnAsn;Phe396_Thr399delinsGlyLeu;Ile401_Phe404delinsLeu;Asn406_Glu413delinsThrHis;Glu416_Leu418del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000217289.9:c.1161del"
          },
          "RefSeq": {
            "hgvs": "NM_017671.5:c.1161del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000217289.4:p.Ala388LeufsTer14"
          },
          "RefSeq": {
            "hgvs": "NP_060141.3:p.Ala388LeufsTer14"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}