{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA273666", "communityStandardTitle": [ "NM_032119.4(ADGRV1):c.5779_5783dup (p.Ser1928ArgfsTer?)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=178304[alleleid]", "alleleId": 178304, "preferredName": "NM_032119.4(ADGRV1):c.5779_5783dup (p.Ser1928fs)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/179943", "RCV": [ "RCV000156744", "RCV001857546" ], "variationId": 179943 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.89979517_89979521dupACGAG?assembly=hg19", "id": "chr5:g.89979517_89979521dupACGAG" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.90683700_90683704dupACGAG?assembly=hg38", "id": "chr5:g.90683700_90683704dupACGAG" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/730880369", "rs": 730880369 } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "ACGAG", "end": 90683704, "referenceAllele": "", "start": 90683704 } ], "hgvs": [ "NC_000005.10:g.90683700_90683704dup", "CM000667.2:g.90683700_90683704dup" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "ACGAG", "end": 89979521, "referenceAllele": "", "start": 89979521 } ], "hgvs": [ "NC_000005.9:g.89979517_89979521dup", "CM000667.1:g.89979517_89979521dup" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "ACGAG", "end": 90015277, "referenceAllele": "", "start": 90015277 } ], "hgvs": [ "NC_000005.8:g.90015273_90015277dup" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "ACGAG", "end": 129905, "referenceAllele": "", "start": 129905 } ], "hgvs": [ "NG_007083.1:g.129901_129905dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS000463" }, { "coordinates": [ { "allele": "ACGAG", "end": 159361, "referenceAllele": "", "start": 159361 } ], "hgvs": [ "NG_007083.2:g.159357_159361dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS616065" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "ACGAG", "end": 5882, "referenceAllele": "", "start": 5882 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "ENST00000405460.9:c.5779_5783dup" ], "proteinEffect": { "hgvs": "ENSP00000384582.2:p.Ser1928ArgfsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS754126", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000405460.9:c.5779_5783dup" }, "RefSeq": { "hgvs": "NM_032119.4:c.5779_5783dup" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000384582.2:p.Ser1928ArgfsTer?" }, "RefSeq": { "hgvs": "NP_115495.3:p.Ser1928ArgfsTer?" } } } }, { "coordinates": [ { "allele": "ACGAG", "end": 265, "endIntronDirection": "+", "endIntronOffset": 7495, "referenceAllele": "", "start": 265, "startIntronDirection": "+", "startIntronOffset": 7495 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "ENST00000639431.1:c.265+7491_265+7495dup" ], "proteinEffect": { "hgvs": "ENSP00000491057.1:n.265+7491_265+7495dup" }, "referenceSequence": "http://reg.genome.network/refseq/RS765023" }, { "coordinates": [ { "allele": "ACGAG", "end": 1242, "referenceAllele": "", "start": 1242 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "ENST00000639473.1:n.1238_1242dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS765041" }, { "coordinates": [ { "allele": "ACGAG", "end": 164, "endIntronDirection": "-", "endIntronOffset": 2075, "referenceAllele": "", "start": 164, "startIntronDirection": "-", "startIntronOffset": 2075 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "ENST00000640012.1:c.165-2080_165-2076dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS765287" }, { "coordinates": [ { "allele": "ACGAG", "end": 3682, "referenceAllele": "", "start": 3682 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "ENST00000640403.1:c.3070_3074dup" ], "proteinEffect": { "hgvs": "ENSP00000492531.1:p.Ser1025ArgfsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS765480" }, { "coordinates": [ { "allele": "ACGAG", "end": 595, "referenceAllele": "", "start": 595 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "ENST00000640779.1:c.591_595dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS765671" }, { "coordinates": [ { "allele": "ACGAG", "end": 5879, "referenceAllele": "", "start": 5879 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "ENST00000405460.6:c.5779_5783dup" ], "proteinEffect": { "hgvs": "ENSP00000384582.2:p.Ser1928ArgfsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS280355" }, { "coordinates": [ { "allele": "ACGAG", "end": 5879, "referenceAllele": "", "start": 5879 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "NM_032119.3:c.5779_5783dup" ], "proteinEffect": { "hgvs": "NP_115495.3:p.Ser1928ArgfsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS038850" }, { "coordinates": [ { "allele": "ACGAG", "end": 5879, "referenceAllele": "", "start": 5879 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "NR_003149.1:n.5875_5879dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS046177" }, { "coordinates": [ { "allele": "ACGAG", "end": 5871, "referenceAllele": "", "start": 5871 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_011543675.1:c.5776_5780dup" ], "proteinEffect": { "hgvs": "XP_011541977.1:p.Ser1927ArgfsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS110592" }, { "coordinates": [ { "allele": "ACGAG", "end": 5793, "referenceAllele": "", "start": 5793 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_011543676.1:c.5698_5702dup" ], "proteinEffect": { "hgvs": "XP_011541978.1:p.Ser1901ArgfsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS110593" }, { "coordinates": [ { "allele": "ACGAG", "end": 3693, "referenceAllele": "", "start": 3693 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_011543677.1:c.3082_3086dup" ], "proteinEffect": { "hgvs": "XP_011541979.1:p.Ser1029ArgfsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS110594" }, { "coordinates": [ { "allele": "ACGAG", "end": 5874, "referenceAllele": "", "start": 5874 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_011543678.1:c.5779_5783dup" ], "proteinEffect": { "hgvs": "XP_011541980.1:p.Ser1928ArgfsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS110595" }, { "coordinates": [ { "allele": "ACGAG", "end": 5876, "referenceAllele": "", "start": 5876 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_011543679.1:c.5779_5783dup" ], "proteinEffect": { "hgvs": "XP_011541981.1:p.Ser1928ArgfsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS110596" }, { "coordinates": [ { "allele": "ACGAG", "end": 5882, "referenceAllele": "", "start": 5882 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "NM_032119.4:c.5779_5783dup" ], "proteinEffect": { "hgvs": "NP_115495.3:p.Ser1928ArgfsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS526295", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000405460.9:c.5779_5783dup" }, "RefSeq": { "hgvs": "NM_032119.4:c.5779_5783dup" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000384582.2:p.Ser1928ArgfsTer?" }, "RefSeq": { "hgvs": "NP_115495.3:p.Ser1928ArgfsTer?" } } } }, { "coordinates": [ { "allele": "ACGAG", "end": 5875, "referenceAllele": "", "start": 5875 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_017009963.2:c.5779_5783dup" ], "proteinEffect": { "hgvs": "XP_016865452.1:p.Ser1928ArgfsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS564136" }, { "coordinates": [ { "allele": "ACGAG", "end": 5872, "referenceAllele": "", "start": 5872 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_017009964.2:c.5776_5780dup" ], "proteinEffect": { "hgvs": "XP_016865453.1:p.Ser1927ArgfsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS564137" }, { "coordinates": [ { "allele": "ACGAG", "end": 5880, "referenceAllele": "", "start": 5880 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_017009965.1:c.5776_5780dup" ], "proteinEffect": { "hgvs": "XP_016865454.1:p.Ser1927ArgfsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS564138" }, { "coordinates": [ { "allele": "ACGAG", "end": 5794, "referenceAllele": "", "start": 5794 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_017009966.2:c.5698_5702dup" ], "proteinEffect": { "hgvs": "XP_016865455.1:p.Ser1901ArgfsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS564139" }, { "coordinates": [ { "allele": "ACGAG", "end": 5787, "referenceAllele": "", "start": 5787 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_017009967.1:c.5683_5687dup" ], "proteinEffect": { "hgvs": "XP_016865456.1:p.Ser1896ArgfsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS564140" }, { "coordinates": [ { "allele": "ACGAG", "end": 5875, "referenceAllele": "", "start": 5875 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_017009968.2:c.5779_5783dup" ], "proteinEffect": { "hgvs": "XP_016865457.1:p.Ser1928ArgfsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS564141" }, { "coordinates": [ { "allele": "ACGAG", "end": 5875, "referenceAllele": "", "start": 5875 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_017009969.2:c.5779_5783dup" ], "proteinEffect": { "hgvs": "XP_016865458.1:p.Ser1928ArgfsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS564142" }, { "coordinates": [ { "allele": "ACGAG", "end": 5875, "referenceAllele": "", "start": 5875 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_017009970.2:c.5779_5783dup" ], "proteinEffect": { "hgvs": "XP_016865459.1:p.Ser1928ArgfsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS564143" }, { "coordinates": [ { "allele": "ACGAG", "end": 5875, "referenceAllele": "", "start": 5875 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_017009971.2:c.5779_5783dup" ], "proteinEffect": { "hgvs": "XP_016865460.1:p.Ser1928ArgfsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS564144" }, { "coordinates": [ { "allele": "ACGAG", "end": 595, "referenceAllele": "", "start": 595 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_017009973.1:c.-1021_-1017dup" ], "proteinEffect": { "hgvs": "XP_016865462.1:n.-1021_-1017dup" }, "referenceSequence": "http://reg.genome.network/refseq/RS564146" }, { "coordinates": [ { "allele": "ACGAG", "end": 5875, "referenceAllele": "", "start": 5875 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "XM_017009974.2:c.5779_5783dup" ], "proteinEffect": { "hgvs": "XP_016865463.1:p.Ser1928ArgfsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS564147" }, { "coordinates": [ { "allele": "ACGAG", "end": 5882, "referenceAllele": "", "start": 5882 } ], "gene": "http://reg.genome.network/gene/GN017416", "geneNCBI_id": 84059, "geneSymbol": "ADGRV1", "hgvs": [ "NR_003149.2:n.5878_5882dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS701829" } ], "type": "nucleotide" }