{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA086311", "communityStandardTitle": [ "NM_005138.3(SCO2):c.16_17insAGCATGCAGCAGTGACTCA (p.Arg6GlnfsTer?)", "NM_152299.4(NCAPH2):c.*1020_*1021insTGAGTCACTGCTGCATGCT" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=224577[alleleid]", "alleleId": 224577, "preferredName": "NM_005138.3(SCO2):c.16_17insAGCATGCAGCAGTGACTCA (p.Arg6fs)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/222816", "RCV": [ "RCV000208004", "RCV001781624", "RCV002288836" ], "variationId": 222816 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/22-50962824-C-CTGAGTCACTGCTGCATGCT", "id": "22-50962824-C-CTGAGTCACTGCTGCATGCT", "variant": "22:50962824 C / CTGAGTCACTGCTGCATGCT" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.50962824_50962825insTGAGTCACTGCTGCATGCT?assembly=hg19", "id": "chr22:g.50962824_50962825insTGAGTCACTGCTGCATGCT" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.50524395_50524396insTGAGTCACTGCTGCATGCT?assembly=hg38", "id": "chr22:g.50524395_50524396insTGAGTCACTGCTGCATGCT" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/749838192", "rs": 749838192 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-50962824-C-CTGAGTCACTGCTGCATGCT?dataset=gnomad_r2_1", "id": "22-50962824-C-CTGAGTCACTGCTGCATGCT", "variant": "22:50962824 C / CTGAGTCACTGCTGCATGCT" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-50524395-C-CTGAGTCACTGCTGCATGCT?dataset=gnomad_r3", "id": "22-50524395-C-CTGAGTCACTGCTGCATGCT", "variant": "22:50524395 C / CTGAGTCACTGCTGCATGCT" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-50524395-C-CTGAGTCACTGCTGCATGCT?dataset=gnomad_r4", "id": "22-50524395-C-CTGAGTCACTGCTGCATGCT", "variant": "22:50524395 C / CTGAGTCACTGCTGCATGCT" } ] }, 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"http://reg.genome.network/refseq/RS000022" }, { "coordinates": [ { "allele": "AGCATGCAGCAGTGACTCA", "end": 10690, "referenceAllele": "", "start": 10690 } ], "hgvs": [ "NG_011860.1:g.10690_10691insAGCATGCAGCAGTGACTCA", "LRG_727:g.10690_10691insAGCATGCAGCAGTGACTCA" ], "referenceSequence": "http://reg.genome.network/refseq/RS002037" }, { "coordinates": [ { "allele": "AGCATGCAGCAGTGACTCA", "end": 7044, "referenceAllele": "", "start": 7044 } ], "hgvs": [ "NG_016235.1:g.7044_7045insAGCATGCAGCAGTGACTCA" ], "referenceSequence": "http://reg.genome.network/refseq/RS003035" }, { "coordinates": [ { "allele": "TGAGTCACTGCTGCATGCT", "end": 21180, "referenceAllele": "", "start": 21180 } ], "hgvs": [ "NG_021419.1:g.21180_21181insTGAGTCACTGCTGCATGCT" ], "referenceSequence": "http://reg.genome.network/refseq/RS003644" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "AGCATGCAGCAGTGACTCA", "end": 156, "referenceAllele": "", "start": 156 } ], "gene": "http://reg.genome.network/gene/GN010604", "geneNCBI_id": 9997, "geneSymbol": "SCO2", "hgvs": [ "ENST00000395693.8:c.16_17insAGCATGCAGCAGTGACTCA" ], "proteinEffect": { "hgvs": "ENSP00000379046.4:p.Arg6GlnfsTer?", "hgvsWellDefined": "ENSP00000379046.4:p.[Arg6_Pro8delinsGlnHisAlaAlaVal;Ala10_Trp11delinsGlnGluPro;Arg13Ser;Ser15Ala;Gln16_Leu17insAla;Lys18_Leu22delinsSerAlaGlnAlaSerGly;Gly24_Gly27delinsProTrpAspPro;Gln29_Ser35delinsArgProGlyProAlaSerGluVal]" }, "referenceSequence": "http://reg.genome.network/refseq/RS753427", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000395693.8:c.16_17insAGCATGCAGCAGTGACTCA" }, "RefSeq": { "hgvs": "NM_005138.3:c.16_17insAGCATGCAGCAGTGACTCA" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379046.4:p.Arg6GlnfsTer?" }, "RefSeq": { "hgvs": "NP_005129.2:p.Arg6GlnfsTer?" } } } }, { "coordinates": [ { "allele": "TGAGTCACTGCTGCATGCT", "end": 2952, "referenceAllele": "", "start": 2952 } ], "gene": "http://reg.genome.network/gene/GN025071", "geneNCBI_id": 29781, "geneSymbol": "NCAPH2", "hgvs": [ "ENST00000420993.7:c.*1020_*1021insTGAGTCACTGCTGCATGCT" ], "proteinEffect": { "hgvs": "ENSP00000410088.2:n.*1020_*1021insTGAGTCACTGCTGCATGCT" }, "referenceSequence": "http://reg.genome.network/refseq/RS754864", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000420993.7:c.*1020_*1021insTGAGTCACTGCTGCATGCT" }, "RefSeq": { "hgvs": "NM_152299.4:c.*1020_*1021insTGAGTCACTGCTGCATGCT" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000410088.2:n.*1020_*1021insTGAGTCACTGCTGCATGCT" }, "RefSeq": { "hgvs": "NP_689512.2:n.*1020_*1021insTGAGTCACTGCTGCATGCT" } } } }, { "coordinates": [ { "allele": "AGCATGCAGCAGTGACTCA", "end": 245, "referenceAllele": "", "start": 245 } ], "gene": "http://reg.genome.network/gene/GN010604", "geneNCBI_id": 9997, "geneSymbol": "SCO2", "hgvs": [ "ENST00000543927.6:c.16_17insAGCATGCAGCAGTGACTCA" ], "proteinEffect": { "hgvs": "ENSP00000444433.1:p.Arg6GlnfsTer?", "hgvsWellDefined": "ENSP00000444433.1:p.[Arg6_Pro8delinsGlnHisAlaAlaVal;Ala10_Trp11delinsGlnGluPro;Arg13Ser;Ser15Ala;Gln16_Leu17insAla;Lys18_Leu22delinsSerAlaGlnAlaSerGly;Gly24_Gly27delinsProTrpAspPro;Gln29_Ser35delinsArgProGlyProAlaSerGluVal]" }, "referenceSequence": "http://reg.genome.network/refseq/RS759753" }, { "coordinates": [ { "allele": "AGCATGCAGCAGTGACTCA", "end": 174, "referenceAllele": "", "start": 174 } ], "gene": "http://reg.genome.network/gene/GN010604", "geneNCBI_id": 9997, "geneSymbol": "SCO2", "hgvs": [ "ENST00000638598.2:c.16_17insAGCATGCAGCAGTGACTCA" ], "proteinEffect": { "hgvs": "ENSP00000491753.2:p.Arg6GlnfsTer?", "hgvsWellDefined": "ENSP00000491753.2:p.[Arg6_Pro8delinsGlnHisAlaAlaVal;Ala10_Trp11delinsGlnGluPro;Arg13Ser;Ser15Ala;Gln16_Leu17insAla;Lys18_Leu22delinsSerAlaGlnAlaSerGly;Gly24_Gly27delinsProTrpAspPro;Gln29_Ser35delinsArgProGlyProAlaSerGluVal]" }, "referenceSequence": "http://reg.genome.network/refseq/RS764608" }, { "coordinates": [ { "allele": "AGCATGCAGCAGTGACTCA", "end": 192, "referenceAllele": "", "start": 192 } ], "hgvs": [ "ENST00000252785.3:c.16_17insAGCATGCAGCAGTGACTCA" ], "proteinEffect": { "hgvs": "ENSP00000252785.3:p.Arg6GlnfsTer?", "hgvsWellDefined": "ENSP00000252785.3:p.[Arg6_Pro8delinsGlnHisAlaAlaVal;Ala10_Trp11delinsGlnGluPro;Arg13Ser;Ser15Ala;Gln16_Leu17insAla;Lys18_Leu22delinsSerAlaGlnAlaSerGly;Gly24_Gly27delinsProTrpAspPro;Gln29_Ser35delinsArgProGlyProAlaSerGluVal]" }, "referenceSequence": "http://reg.genome.network/refseq/RS249856" }, { "coordinates": [ { "allele": "AGCATGCAGCAGTGACTCA", "end": 164, "referenceAllele": "", "start": 164 } ], "hgvs": [ "ENST00000395693.7:c.16_17insAGCATGCAGCAGTGACTCA" ], "proteinEffect": { "hgvs": "ENSP00000379046.3:p.Arg6GlnfsTer?", "hgvsWellDefined": "ENSP00000379046.3:p.[Arg6_Pro8delinsGlnHisAlaAlaVal;Ala10_Trp11delinsGlnGluPro;Arg13Ser;Ser15Ala;Gln16_Leu17insAla;Lys18_Leu22delinsSerAlaGlnAlaSerGly;Gly24_Gly27delinsProTrpAspPro;Gln29_Ser35delinsArgProGlyProAlaSerGluVal]" }, "referenceSequence": "http://reg.genome.network/refseq/RS276837" }, { "coordinates": [ { "allele": "AGCATGCAGCAGTGACTCA", "end": 223, "referenceAllele": "", "start": 223 } ], "hgvs": [ "ENST00000423348.1:c.16_17insAGCATGCAGCAGTGACTCA" ], "proteinEffect": { "hgvs": "ENSP00000403570.1:p.Arg6GlnfsTer?", "hgvsWellDefined": "ENSP00000403570.1:p.[Arg6_Pro8delinsGlnHisAlaAlaVal;Ala10_Trp11delinsGlnGluPro;Arg13Ser;Ser15Ala;Gln16_Leu17insAla;Lys18_Leu22delinsSerAlaGlnAlaSerGly;Gly24_Gly27delinsProTrpAspPro;Gln29_Ser35delinsArgProGlyProAlaSerGluVal]" }, "referenceSequence": "http://reg.genome.network/refseq/RS287717" }, { "coordinates": [ { "allele": "AGCATGCAGCAGTGACTCA", "end": 174, "referenceAllele": "", "start": 174 } ], "hgvs": [ "ENST00000439934.5:c.16_17insAGCATGCAGCAGTGACTCA" ], "proteinEffect": { "hgvs": "ENSP00000415642.1:p.Arg6GlnfsTer?", "hgvsWellDefined": "ENSP00000415642.1:p.[Arg6_Pro8delinsGlnHisAlaAlaVal;Ala10_Trp11delinsGlnGluPro;Arg13Ser;Ser15Ala;Gln16_Leu17insAla;Lys18_Leu22delinsSerAlaGlnAlaSerGly;Gly24_Gly27delinsProTrpAspPro;Gln29_Ser35delinsArgProGlyProAlaSerGluVal]" }, "referenceSequence": "http://reg.genome.network/refseq/RS295651" }, { "coordinates": [ { "allele": "AGCATGCAGCAGTGACTCA", "end": 174, "referenceAllele": "", "start": 174 } ], "hgvs": [ "ENST00000535425.5:c.16_17insAGCATGCAGCAGTGACTCA" ], "proteinEffect": { "hgvs": "ENSP00000444242.1:p.Arg6GlnfsTer?", "hgvsWellDefined": "ENSP00000444242.1:p.[Arg6_Pro8delinsGlnHisAlaAlaVal;Ala10_Trp11delinsGlnGluPro;Arg13Ser;Ser15Ala;Gln16_Leu17insAla;Lys18_Leu22delinsSerAlaGlnAlaSerGly;Gly24_Gly27delinsProTrpAspPro;Gln29_Ser35delinsArgProGlyProAlaSerGluVal]" }, "referenceSequence": "http://reg.genome.network/refseq/RS359724" }, { "coordinates": [ { "allele": "AGCATGCAGCAGTGACTCA", "end": 223, "referenceAllele": "", "start": 223 } ], "hgvs": [ "ENST00000543927.5:c.16_17insAGCATGCAGCAGTGACTCA" ], "proteinEffect": { "hgvs": "ENSP00000444433.1:p.Arg6GlnfsTer?", "hgvsWellDefined": "ENSP00000444433.1:p.[Arg6_Pro8delinsGlnHisAlaAlaVal;Ala10_Trp11delinsGlnGluPro;Arg13Ser;Ser15Ala;Gln16_Leu17insAla;Lys18_Leu22delinsSerAlaGlnAlaSerGly;Gly24_Gly27delinsProTrpAspPro;Gln29_Ser35delinsArgProGlyProAlaSerGluVal]" }, "referenceSequence": "http://reg.genome.network/refseq/RS364285" }, { "coordinates": [ { "allele": "AGCATGCAGCAGTGACTCA", "end": 223, "referenceAllele": "", "start": 223 } ], "gene": "http://reg.genome.network/gene/GN010604", "geneNCBI_id": 9997, "geneSymbol": "SCO2", "hgvs": [ "NM_001169109.1:c.16_17insAGCATGCAGCAGTGACTCA" ], "proteinEffect": { "hgvs": "NP_001162580.1:p.Arg6GlnfsTer?", "hgvsWellDefined": "NP_001162580.1:p.[Arg6_Pro8delinsGlnHisAlaAlaVal;Ala10_Trp11delinsGlnGluPro;Arg13Ser;Ser15Ala;Gln16_Leu17insAla;Lys18_Leu22delinsSerAlaGlnAlaSerGly;Gly24_Gly27delinsProTrpAspPro;Gln29_Ser35delinsArgProGlyProAlaSerGluVal]" }, "referenceSequence": "http://reg.genome.network/refseq/RS015144" }, { "coordinates": [ { "allele": "AGCATGCAGCAGTGACTCA", "end": 174, "referenceAllele": "", "start": 174 } ], "gene": "http://reg.genome.network/gene/GN010604", "geneNCBI_id": 9997, "geneSymbol": "SCO2", "hgvs": [ "NM_001169110.1:c.16_17insAGCATGCAGCAGTGACTCA" ], "proteinEffect": { "hgvs": "NP_001162581.1:p.Arg6GlnfsTer?", "hgvsWellDefined": "NP_001162581.1:p.[Arg6_Pro8delinsGlnHisAlaAlaVal;Ala10_Trp11delinsGlnGluPro;Arg13Ser;Ser15Ala;Gln16_Leu17insAla;Lys18_Leu22delinsSerAlaGlnAlaSerGly;Gly24_Gly27delinsProTrpAspPro;Gln29_Ser35delinsArgProGlyProAlaSerGluVal]" }, "referenceSequence": "http://reg.genome.network/refseq/RS015145" }, { "coordinates": [ { "allele": "AGCATGCAGCAGTGACTCA", "end": 192, "referenceAllele": "", "start": 192 } ], "gene": "http://reg.genome.network/gene/GN010604", "geneNCBI_id": 9997, "geneSymbol": "SCO2", "hgvs": [ "NM_001169111.1:c.16_17insAGCATGCAGCAGTGACTCA" ], "proteinEffect": { "hgvs": "NP_001162582.1:p.Arg6GlnfsTer?", "hgvsWellDefined": "NP_001162582.1:p.[Arg6_Pro8delinsGlnHisAlaAlaVal;Ala10_Trp11delinsGlnGluPro;Arg13Ser;Ser15Ala;Gln16_Leu17insAla;Lys18_Leu22delinsSerAlaGlnAlaSerGly;Gly24_Gly27delinsProTrpAspPro;Gln29_Ser35delinsArgProGlyProAlaSerGluVal]" }, "referenceSequence": "http://reg.genome.network/refseq/RS015146" }, { "coordinates": [ { "allele": "TGAGTCACTGCTGCATGCT", "end": 2963, "referenceAllele": "", "start": 2963 } ], "gene": "http://reg.genome.network/gene/GN025071", "geneNCBI_id": 29781, "geneSymbol": "NCAPH2", "hgvs": [ "NM_001185011.1:c.*1020_*1021insTGAGTCACTGCTGCATGCT" ], "proteinEffect": { "hgvs": "NP_001171940.1:n.*1020_*1021insTGAGTCACTGCTGCATGCT" }, "referenceSequence": "http://reg.genome.network/refseq/RS016080" }, { "coordinates": [ { "allele": "AGCATGCAGCAGTGACTCA", "end": 163, "referenceAllele": "", "start": 163 } ], "gene": "http://reg.genome.network/gene/GN010604", "geneNCBI_id": 9997, "geneSymbol": "SCO2", "hgvs": [ "NM_005138.2:c.16_17insAGCATGCAGCAGTGACTCA" ], "proteinEffect": { "hgvs": "NP_005129.2:p.Arg6GlnfsTer?", "hgvsWellDefined": "NP_005129.2:p.[Arg6_Pro8delinsGlnHisAlaAlaVal;Ala10_Trp11delinsGlnGluPro;Arg13Ser;Ser15Ala;Gln16_Leu17insAla;Lys18_Leu22delinsSerAlaGlnAlaSerGly;Gly24_Gly27delinsProTrpAspPro;Gln29_Ser35delinsArgProGlyProAlaSerGluVal]" }, "referenceSequence": "http://reg.genome.network/refseq/RS030259" }, { "coordinates": [ { "allele": "TGAGTCACTGCTGCATGCT", "end": 2960, "referenceAllele": "", "start": 2960 } ], "gene": "http://reg.genome.network/gene/GN025071", "geneNCBI_id": 29781, "geneSymbol": "NCAPH2", "hgvs": [ "NM_152299.3:c.*1020_*1021insTGAGTCACTGCTGCATGCT" ], "proteinEffect": { "hgvs": "NP_689512.2:n.*1020_*1021insTGAGTCACTGCTGCATGCT" }, "referenceSequence": "http://reg.genome.network/refseq/RS041761" }, { "coordinates": [ { "allele": "TGAGTCACTGCTGCATGCT", "end": 3048, "referenceAllele": "", "start": 3048 } ], "gene": "http://reg.genome.network/gene/GN025071", "geneNCBI_id": 29781, "geneSymbol": "NCAPH2", "hgvs": [ "XR_001755232.1:n.3048_3049insTGAGTCACTGCTGCATGCT" ], "referenceSequence": "http://reg.genome.network/refseq/RS601066" }, { "coordinates": [ { "allele": "TGAGTCACTGCTGCATGCT", "end": 2952, "referenceAllele": "", "start": 2952 } ], "gene": "http://reg.genome.network/gene/GN025071", "geneNCBI_id": 29781, "geneSymbol": "NCAPH2", "hgvs": [ "NM_152299.4:c.*1020_*1021insTGAGTCACTGCTGCATGCT" ], "proteinEffect": { "hgvs": "NP_689512.2:n.*1020_*1021insTGAGTCACTGCTGCATGCT" }, "referenceSequence": "http://reg.genome.network/refseq/RS672276", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000420993.7:c.*1020_*1021insTGAGTCACTGCTGCATGCT" }, "RefSeq": { "hgvs": "NM_152299.4:c.*1020_*1021insTGAGTCACTGCTGCATGCT" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000410088.2:n.*1020_*1021insTGAGTCACTGCTGCATGCT" }, "RefSeq": { "hgvs": "NP_689512.2:n.*1020_*1021insTGAGTCACTGCTGCATGCT" } } } }, { "coordinates": [ { "allele": "TGAGTCACTGCTGCATGCT", "end": 2955, "referenceAllele": "", "start": 2955 } ], "gene": "http://reg.genome.network/gene/GN025071", "geneNCBI_id": 29781, "geneSymbol": "NCAPH2", "hgvs": [ "NM_001185011.2:c.*1020_*1021insTGAGTCACTGCTGCATGCT" ], "proteinEffect": { "hgvs": "NP_001171940.1:n.*1020_*1021insTGAGTCACTGCTGCATGCT" }, "referenceSequence": "http://reg.genome.network/refseq/RS679060" }, { "coordinates": [ { "allele": "AGCATGCAGCAGTGACTCA", "end": 156, "referenceAllele": "", "start": 156 } ], "gene": "http://reg.genome.network/gene/GN010604", "geneNCBI_id": 9997, "geneSymbol": "SCO2", "hgvs": [ "NM_005138.3:c.16_17insAGCATGCAGCAGTGACTCA" ], "proteinEffect": { "hgvs": "NP_005129.2:p.Arg6GlnfsTer?", "hgvsWellDefined": "NP_005129.2:p.[Arg6_Pro8delinsGlnHisAlaAlaVal;Ala10_Trp11delinsGlnGluPro;Arg13Ser;Ser15Ala;Gln16_Leu17insAla;Lys18_Leu22delinsSerAlaGlnAlaSerGly;Gly24_Gly27delinsProTrpAspPro;Gln29_Ser35delinsArgProGlyProAlaSerGluVal]" }, "referenceSequence": "http://reg.genome.network/refseq/RS696334", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000395693.8:c.16_17insAGCATGCAGCAGTGACTCA" }, "RefSeq": { "hgvs": "NM_005138.3:c.16_17insAGCATGCAGCAGTGACTCA" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379046.4:p.Arg6GlnfsTer?" }, "RefSeq": { "hgvs": "NP_005129.2:p.Arg6GlnfsTer?" } } } }, { "coordinates": [ { "allele": "AGCATGCAGCAGTGACTCA", "end": 226, "referenceAllele": "", "start": 226 } ], "gene": "http://reg.genome.network/gene/GN010604", "geneNCBI_id": 9997, "geneSymbol": "SCO2", "hgvs": [ "NM_001169109.2:c.16_17insAGCATGCAGCAGTGACTCA" ], "proteinEffect": { "hgvs": "NP_001162580.1:p.Arg6GlnfsTer?", "hgvsWellDefined": "NP_001162580.1:p.[Arg6_Pro8delinsGlnHisAlaAlaVal;Ala10_Trp11delinsGlnGluPro;Arg13Ser;Ser15Ala;Gln16_Leu17insAla;Lys18_Leu22delinsSerAlaGlnAlaSerGly;Gly24_Gly27delinsProTrpAspPro;Gln29_Ser35delinsArgProGlyProAlaSerGluVal]" }, "referenceSequence": "http://reg.genome.network/refseq/RS713304" }, { "coordinates": [ { "allele": "AGCATGCAGCAGTGACTCA", "end": 186, "referenceAllele": "", "start": 186 } ], "gene": "http://reg.genome.network/gene/GN010604", "geneNCBI_id": 9997, "geneSymbol": "SCO2", "hgvs": [ "NM_001169111.2:c.16_17insAGCATGCAGCAGTGACTCA" ], "proteinEffect": { "hgvs": "NP_001162582.1:p.Arg6GlnfsTer?", "hgvsWellDefined": "NP_001162582.1:p.[Arg6_Pro8delinsGlnHisAlaAlaVal;Ala10_Trp11delinsGlnGluPro;Arg13Ser;Ser15Ala;Gln16_Leu17insAla;Lys18_Leu22delinsSerAlaGlnAlaSerGly;Gly24_Gly27delinsProTrpAspPro;Gln29_Ser35delinsArgProGlyProAlaSerGluVal]" }, "referenceSequence": "http://reg.genome.network/refseq/RS713305" } ], "type": "nucleotide" }