{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA210348", "communityStandardTitle": [ "NM_005219.5(DIAPH1):c.2332C>T (p.Gln778Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=181418[alleleid]", "alleleId": 181418, "preferredName": "NM_005219.5(DIAPH1):c.2332C>T (p.Gln778Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/183344", "RCV": [ "RCV000162177", "RCV000201793", "RCV003984821" ], "variationId": 183344 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.140953085G>A?assembly=hg19", "id": "chr5:g.140953085G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.141573518G>A?assembly=hg38", "id": "chr5:g.141573518G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/730882242", "rs": 730882242 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-141573518-G-A?dataset=gnomad_r4", "id": "5-141573518-G-A", "variant": "5:141573518 G / A" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 141573518, "referenceAllele": "G", "start": 141573517 } ], "hgvs": [ "NC_000005.10:g.141573518G>A", "CM000667.2:g.141573518G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 140953085, "referenceAllele": "G", "start": 140953084 } ], "hgvs": [ "NC_000005.9:g.140953085G>A", "CM000667.1:g.140953085G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 140933269, "referenceAllele": "G", "start": 140933268 } ], "hgvs": [ "NC_000005.8:g.140933269G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "T", "end": 50538, "referenceAllele": "C", "start": 50537 } ], "hgvs": [ "NG_011594.1:g.50538C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001842" }, { "coordinates": [ { "allele": "T", "end": 50538, "referenceAllele": "C", "start": 50537 } ], "hgvs": [ "NG_011594.2:g.50538C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673549" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2418, "referenceAllele": "C", "start": 2417 } ], "gene": "http://reg.genome.network/gene/GN002876", "geneNCBI_id": 1729, "geneSymbol": "DIAPH1", "hgvs": [ "ENST00000389054.8:c.2332C>T" ], "proteinEffect": { "hgvs": "ENSP00000373706.4:p.Gln778Ter", "hgvsWellDefined": "ENSP00000373706.4:p.Gln778_Ser1272delinsLeuArgArgProAsnTrpSerLysLeuValAlaGluAspLeuSerGlnAspCysPheTrpThrLysValLysGluAspArgPheGluAsnAsnGluLeuPheAlaLysLeuThrLeuThrPheSerAlaGlnThrLysThrSerLysAlaLysLysAspGlnGluGlyGlyGluGluLysLysSerValGlnLysLysLysValLysGluLeuLysValLeuAspSerLysThrAlaGlnAsnLeuSerIlePheLeuGlySerPheArgMetProTyrGlnGluIleLysAsnValIleLeuGluValAsnGluAlaValLeuThrGluSerMetIleGlnAsnLeuIleLysGlnMetProGluProGluGlnLeuLysMetLeuSerGluLeuLysAspGluTyrAspAspLeuAlaGluSerGluGlnPheGlyValValMetGlyThrValProArgLeuArgProArgLeuAsnAlaIleLeuPheLysLeuGlnPheSerGluGlnValGluAsnIleLysProGluIleValSerValThrAlaAlaCysGluGluLeuArgLysSerGluSerPheSerAsnLeuLeuGluIleThrLeuLeuValGlyAsnTyrMetAsnAlaGlySerArgAsnAlaGlyAlaPheGlyPheAsnIleSerPheLeuCysLysLeuArgAspThrLysSerThrAspGlnLysMetThrLeuLeuHisPheLeuAlaGluLeuCysGluAsnAspTyrProAspValLeuLysPheProAspGluLeuAlaHisValGluLysAlaSerArgValSerAlaGluAsnLeuGlnLysAsnLeuAspGlnMetLysLysGlnIleSerAspValGluArgAspValGlnAsnPheProAlaAlaThrAspGluLysAspLysPheValGluLysMetThrSerPheValLysAspAlaGlnGluGlnTyrAsnLysLeuArgMetMetHisSerAsnMetGluThrLeuTyrLysGluLeuGlyGluTyrPheLeuPheAspProLysLysLeuSerValGluGluPhePheMetAspLeuHisAsnPheArgAsnMetPheLeuGlnAlaValLysGluAsnGlnLysArgArgGluThrGluGluLysMetArgArgAlaLysLeuAlaLysGluLysAlaGluLysGluArgLeuGluLysGlnGlnLysArgGluGlnLeuIleAspMetAsnAlaGluGlyAspGluThrGlyValMetAspSerLeuLeuGluAlaLeuGlnSerGlyAlaAlaPheArgArgLysArgGlyProArgGlnAlaAsnArgLysAlaGlyCysAlaValThrSerLeuLeuAlaSerGluLeuThrLysAspAspAlaMetAlaAlaValProAlaLysValSerLysAsnSerGluThrPheProThrIleLeuGluGluAlaLysGluLeuValGlyArgAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752781", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389054.8:c.2332C>T" }, "RefSeq": { "hgvs": "NM_005219.5:c.2332C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000373706.4:p.Gln778Ter" }, "RefSeq": { "hgvs": "NP_005210.3:p.Gln778Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2473, "referenceAllele": "C", "start": 2472 } ], "gene": "http://reg.genome.network/gene/GN002876", "geneNCBI_id": 1729, "geneSymbol": "DIAPH1", "hgvs": [ "ENST00000647433.1:c.2332C>T" ], "proteinEffect": { "hgvs": "ENSP00000494675.1:p.Gln778Ter", "hgvsWellDefined": "ENSP00000494675.1:p.Gln778_Cys1250delinsLeuArgArgProAsnTrpSerLysLeuValAlaGluAspLeuSerGlnAspCysPheTrpThrLysValLysGluAspArgPheGluAsnAsnGluLeuPheAlaLysLeuThrLeuThrPheSerAlaGlnThrLysThrSerLysAlaLysLysAspGlnGluGlyGlyGluGluLysLysSerValGlnLysLysLysValLysGluLeuLysValLeuAspSerLysThrAlaGlnAsnLeuSerIlePheLeuGlySerPheArgMetProTyrGlnGluIleLysAsnValIleLeuGluValAsnGluAlaValLeuThrGluSerMetIleGlnAsnLeuIleLysGlnMetProGluProGluGlnLeuLysMetLeuSerGluLeuLysAspGluTyrAspAspLeuAlaGluSerGluGlnPheGlyValValMetGlyThrValProArgLeuArgProArgLeuAsnAlaIleLeuPheLysLeuGlnPheSerGluGlnValGluAsnIleLysProGluIleValSerValThrAlaAlaCysGluGluLeuArgLysSerGluSerPheSerAsnLeuLeuGluIleThrLeuLeuValGlyAsnTyrMetAsnAlaGlySerArgAsnAlaGlyAlaPheGlyPheAsnIleSerPheLeuCysLysLeuArgAspThrLysSerThrAspGlnLysMetThrLeuLeuHisPheLeuAlaGluLeuCysGluAsnAspTyrProAspValLeuLysPheProAspGluLeuAlaHisValGluLysAlaSerArgValSerAlaGluAsnLeuGlnLysAsnLeuAspGlnMetLysLysGlnIleSerAspValGluArgAspValGlnAsnPheProAlaAlaThrAspGluLysAspLysPheValGluLysMetThrSerPheValLysAspAlaGlnGluGlnTyrAsnLysLeuArgMetMetHisSerAsnMetGluThrLeuTyrLysGluLeuGlyGluTyrPheLeuPheAspProLysLysLeuSerValGluGluPhePheMetAspLeuHisAsnPheArgAsnMetPheLeuGlnAlaValLysGluAsnGlnLysArgArgGluThrGluGluLysMetArgArgAlaLysLeuAlaLysGluLysAlaGluLysGluArgLeuGluLysGlnGlnLysArgGluGlnLeuIleAspMetAsnAlaGluGlyAspGluThrGlyValMetAspSerLeuLeuGluAlaLeuGlnSerGlyAlaAlaPheArgArgLysArgGlyProArgGlnAspAsnLeuLeuCysProTrpGluValGluGluGluGluGluThrPheLysLeuProThrGlyArgProGlyValGlnSerHisLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769409" }, { "coordinates": [ { "allele": "T", "end": 2473, "referenceAllele": "C", "start": 2472 } ], "gene": "http://reg.genome.network/gene/GN002876", "geneNCBI_id": 1729, "geneSymbol": "DIAPH1", "hgvs": [ "ENST00000253811.10:c.2200C>T" ], "proteinEffect": { "hgvs": "ENSP00000253811.7:p.Gln734Ter", "hgvsWellDefined": "ENSP00000253811.7:p.Gln734_Ser1228delinsLeuArgArgProAsnTrpSerLysLeuValAlaGluAspLeuSerGlnAspCysPheTrpThrLysValLysGluAspArgPheGluAsnAsnGluLeuPheAlaLysLeuThrLeuThrPheSerAlaGlnThrLysAsnSerGlnAlaLysLysAspGlnGluGlyGlyGluGluLysLysSerValGlnLysLysLysValLysGluLeuLysValLeuAspSerLysThrAlaGlnAsnLeuSerIlePheLeuGlySerPheArgMetProTyrGlnGluIleLysAsnValIleLeuGluValAsnGluAlaValLeuThrGluSerMetIleGlnAsnLeuIleLysGlnMetProGluProGluGlnLeuLysMetLeuSerGluLeuLysAspGluTyrAspAspLeuAlaGluSerGluGlnPheGlyValValMetGlyThrValProArgLeuArgProArgLeuAsnAlaIleLeuPheLysLeuGlnPheSerGluGlnValGluAsnIleLysProGluIleValSerValThrAlaAlaCysGluGluLeuArgLysSerGluSerPheSerAsnLeuLeuGluIleThrLeuLeuValGlyAsnTyrMetAsnAlaGlySerArgAsnAlaGlyAlaPheGlyPheAsnIleSerPheLeuCysLysLeuArgAspThrLysSerThrAspGlnLysMetThrLeuLeuHisPheLeuAlaGluLeuCysGluAsnAspTyrProAspValLeuLysPheProAspGluLeuAlaHisValGluLysAlaSerArgValSerAlaGluAsnLeuGlnLysAsnLeuAspGlnMetLysLysGlnIleSerAspValGluArgAspValGlnAsnPheProAlaAlaThrAspGluLysAspLysPheValGluLysMetThrIlePheValLysAspAlaGlnGluGlnTyrAsnLysLeuArgMetMetHisSerAsnMetGluThrLeuTyrLysGluLeuGlyGluTyrPheLeuPheAspProLysLysLeuSerValGluGluPhePheMetAspLeuHisAsnPheArgAsnMetPheLeuGlnAlaValLysGluAsnGlnLysArgArgGluThrGluGluLysMetArgArgAlaLysLeuAlaLysGluLysAlaGluLysGluArgLeuGluLysGlnGlnLysArgGluGlnLeuIleAspMetAsnAlaGluGlyAspGluThrGlyValMetAspSerLeuLeuGluAlaLeuGlnSerGlyAlaAlaPheArgArgLysArgGlyProArgGlnAlaAsnArgLysAlaGlyCysAlaValThrSerLeuLeuAlaSerGluLeuThrLysAspAspAlaMetAlaAlaValProAlaLysValSerLysAsnSerGluThrPheProThrIleLeuGluGluAlaLysGluLeuValGlyArgAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS249960" }, { "coordinates": [ { "allele": "T", "end": 2473, "referenceAllele": "C", "start": 2472 } ], "gene": "http://reg.genome.network/gene/GN002876", "geneNCBI_id": 1729, "geneSymbol": "DIAPH1", "hgvs": [ "ENST00000389054.7:c.2332C>T" ], "proteinEffect": { "hgvs": "ENSP00000373706.4:p.Gln778Ter", "hgvsWellDefined": "ENSP00000373706.4:p.Gln778_Ser1272delinsLeuArgArgProAsnTrpSerLysLeuValAlaGluAspLeuSerGlnAspCysPheTrpThrLysValLysGluAspArgPheGluAsnAsnGluLeuPheAlaLysLeuThrLeuThrPheSerAlaGlnThrLysThrSerLysAlaLysLysAspGlnGluGlyGlyGluGluLysLysSerValGlnLysLysLysValLysGluLeuLysValLeuAspSerLysThrAlaGlnAsnLeuSerIlePheLeuGlySerPheArgMetProTyrGlnGluIleLysAsnValIleLeuGluValAsnGluAlaValLeuThrGluSerMetIleGlnAsnLeuIleLysGlnMetProGluProGluGlnLeuLysMetLeuSerGluLeuLysAspGluTyrAspAspLeuAlaGluSerGluGlnPheGlyValValMetGlyThrValProArgLeuArgProArgLeuAsnAlaIleLeuPheLysLeuGlnPheSerGluGlnValGluAsnIleLysProGluIleValSerValThrAlaAlaCysGluGluLeuArgLysSerGluSerPheSerAsnLeuLeuGluIleThrLeuLeuValGlyAsnTyrMetAsnAlaGlySerArgAsnAlaGlyAlaPheGlyPheAsnIleSerPheLeuCysLysLeuArgAspThrLysSerThrAspGlnLysMetThrLeuLeuHisPheLeuAlaGluLeuCysGluAsnAspTyrProAspValLeuLysPheProAspGluLeuAlaHisValGluLysAlaSerArgValSerAlaGluAsnLeuGlnLysAsnLeuAspGlnMetLysLysGlnIleSerAspValGluArgAspValGlnAsnPheProAlaAlaThrAspGluLysAspLysPheValGluLysMetThrSerPheValLysAspAlaGlnGluGlnTyrAsnLysLeuArgMetMetHisSerAsnMetGluThrLeuTyrLysGluLeuGlyGluTyrPheLeuPheAspProLysLysLeuSerValGluGluPhePheMetAspLeuHisAsnPheArgAsnMetPheLeuGlnAlaValLysGluAsnGlnLysArgArgGluThrGluGluLysMetArgArgAlaLysLeuAlaLysGluLysAlaGluLysGluArgLeuGluLysGlnGlnLysArgGluGlnLeuIleAspMetAsnAlaGluGlyAspGluThrGlyValMetAspSerLeuLeuGluAlaLeuGlnSerGlyAlaAlaPheArgArgLysArgGlyProArgGlnAlaAsnArgLysAlaGlyCysAlaValThrSerLeuLeuAlaSerGluLeuThrLysAspAspAlaMetAlaAlaValProAlaLysValSerLysAsnSerGluThrPheProThrIleLeuGluGluAlaLysGluLeuValGlyArgAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274138" }, { "coordinates": [ { "allele": "T", "end": 2446, "referenceAllele": "C", "start": 2445 } ], "gene": "http://reg.genome.network/gene/GN002876", "geneNCBI_id": 1729, "geneSymbol": "DIAPH1", "hgvs": [ "ENST00000389057.9:c.2305C>T" ], "proteinEffect": { "hgvs": "ENSP00000373709.6:p.Gln769Ter", "hgvsWellDefined": "ENSP00000373709.6:p.Gln769_Ser1263delinsLeuArgArgProAsnTrpSerLysLeuValAlaGluAspLeuSerGlnAspCysPheTrpThrLysValLysGluAspArgPheGluAsnAsnGluLeuPheAlaLysLeuThrLeuThrPheSerAlaGlnThrLysThrLeuLeuAlaLysLysAspGlnGluGlyGlyGluGluLysLysSerValGlnLysLysLysValLysGluLeuLysValLeuAspSerLysThrAlaGlnAsnLeuSerIlePheLeuGlySerPheArgMetProTyrGlnGluIleLysAsnValIleLeuGluValAsnGluAlaValLeuThrGluSerMetIleGlnAsnLeuIleLysGlnMetProGluProGluGlnLeuLysMetLeuSerGluLeuLysAspGluTyrAspAspLeuAlaGluSerGluGlnPheGlyValValMetGlyThrValProArgLeuArgProArgLeuAsnAlaIleLeuPheLysLeuGlnPheSerGluGlnValGluAsnIleLysProGluIleValSerValThrAlaAlaCysGluGluLeuArgLysSerGluSerPheSerAsnLeuLeuGluIleThrLeuLeuValGlyAsnTyrMetAsnAlaGlySerArgAsnAlaGlyAlaPheGlyPheAsnIleSerPheLeuCysLysLeuArgAspThrLysSerThrAspGlnLysMetThrLeuLeuHisPheLeuAlaGluLeuCysGluAsnAspTyrProAspValLeuLysPheProAspGluLeuAlaHisValGluLysAlaSerArgValSerAlaGluAsnLeuGlnLysAsnLeuAspGlnMetLysLysGlnIleSerAspValGluArgAspValGlnAsnPheProAlaAlaThrAspGluLysAspLysPheValGluLysMetThrSerPheValLysAspAlaGlnGluGlnTyrAsnLysLeuArgMetMetHisSerAsnMetGluThrLeuTyrLysGluLeuGlyGluTyrPheLeuPheAspProLysLysLeuSerValGluGluPhePheMetAspLeuHisAsnPheArgAsnMetPheLeuGlnAlaValLysGluAsnGlnLysArgArgGluThrGluGluLysMetArgArgAlaLysLeuAlaLysGluLysAlaGluLysGluArgLeuGluLysGlnGlnLysArgGluGlnLeuIleAspMetAsnAlaGluGlyAspGluThrGlyValMetAspSerLeuLeuGluAlaLeuGlnSerGlyAlaAlaPheArgArgLysArgGlyProArgGlnAlaAsnArgLysAlaGlyCysAlaValThrSerLeuLeuAlaSerGluLeuThrLysAspAspAlaMetAlaAlaValProAlaLysValSerLysAsnSerGluThrPheProThrIleLeuGluGluAlaLysGluLeuValGlyArgAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274139" }, { "coordinates": [ { "allele": "T", "end": 2473, "referenceAllele": "C", "start": 2472 } ], "gene": "http://reg.genome.network/gene/GN002876", "geneNCBI_id": 1729, "geneSymbol": "DIAPH1", "hgvs": [ "ENST00000398557.8:c.2332C>T" ], "proteinEffect": { "hgvs": "ENSP00000381565.5:p.Gln778Ter", "hgvsWellDefined": "ENSP00000381565.5:p.Gln778_Ser1272delinsLeuArgArgProAsnTrpSerLysLeuValAlaGluAspLeuSerGlnAspCysPheTrpThrLysValLysGluAspArgPheGluAsnAsnGluLeuPheAlaLysLeuThrLeuThrPheSerAlaGlnThrLysThrLeuLeuAlaLysLysAspGlnGluGlyGlyGluGluLysLysSerValGlnLysLysLysValLysGluLeuLysValLeuAspSerLysThrAlaGlnAsnLeuSerIlePheLeuGlySerPheArgMetProTyrGlnGluIleLysAsnValIleLeuGluValAsnGluAlaValLeuThrGluSerMetIleGlnAsnLeuIleLysGlnMetProGluProGluGlnLeuLysMetLeuSerGluLeuLysAspGluTyrAspAspLeuAlaGluSerGluGlnPheGlyValValMetGlyThrValProArgLeuArgProArgLeuAsnAlaIleLeuPheLysLeuGlnPheSerGluGlnValGluAsnIleLysProGluIleValSerValThrAlaAlaCysGluGluLeuArgLysSerGluSerPheSerAsnLeuLeuGluIleThrLeuLeuValGlyAsnTyrMetAsnAlaGlySerArgAsnAlaGlyAlaPheGlyPheAsnIleSerPheLeuCysLysLeuArgAspThrLysSerThrAspGlnLysMetThrLeuLeuHisPheLeuAlaGluLeuCysGluAsnAspTyrProAspValLeuLysPheProAspGluLeuAlaHisValGluLysAlaSerArgValSerAlaGluAsnLeuGlnLysAsnLeuAspGlnMetLysLysGlnIleSerAspValGluArgAspValGlnAsnPheProAlaAlaThrAspGluLysAspLysPheValGluLysMetThrSerPheValLysAspAlaGlnGluGlnTyrAsnLysLeuArgMetMetHisSerAsnMetGluThrLeuTyrLysGluLeuGlyGluTyrPheLeuPheAspProLysLysLeuSerValGluGluPhePheMetAspLeuHisAsnPheArgAsnMetPheLeuGlnAlaValLysGluAsnGlnLysArgArgGluThrGluGluLysMetArgArgAlaLysLeuAlaLysGluLysAlaGluLysGluArgLeuGluLysGlnGlnLysArgGluGlnLeuIleAspMetAsnAlaGluGlyAspGluThrGlyValMetAspSerLeuLeuGluAlaLeuGlnSerGlyAlaAlaPheArgArgLysArgGlyProArgGlnAlaAsnArgLysAlaGlyCysAlaValThrSerLeuLeuAlaSerGluLeuThrLysAspAspAlaMetAlaAlaValProAlaLysValSerLysAsnSerGluThrPheProThrIleLeuGluGluAlaLysGluLeuValGlyArgAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278324" }, { "coordinates": [ { "allele": "T", "end": 2305, "referenceAllele": "C", "start": 2304 } ], "gene": "http://reg.genome.network/gene/GN002876", "geneNCBI_id": 1729, "geneSymbol": "DIAPH1", "hgvs": [ "ENST00000518047.5:c.2305C>T" ], "proteinEffect": { "hgvs": "ENSP00000428268.2:p.Gln769Ter", "hgvsWellDefined": "ENSP00000428268.2:p.Gln769_Ser1263delinsLeuArgArgProAsnTrpSerLysLeuValAlaGluAspLeuSerGlnAspCysPheTrpThrLysValLysGluAspArgPheGluAsnAsnGluLeuPheAlaLysLeuThrLeuThrPheSerAlaGlnThrLysThrSerLysAlaLysLysAspGlnGluGlyGlyGluGluLysLysSerValGlnLysLysLysValLysGluLeuLysValLeuAspSerLysThrAlaGlnAsnLeuSerIlePheLeuGlySerPheArgMetProTyrGlnGluIleLysAsnValIleLeuGluValAsnGluAlaValLeuThrGluSerMetIleGlnAsnLeuIleLysGlnMetProGluProGluGlnLeuLysMetLeuSerGluLeuLysAspGluTyrAspAspLeuAlaGluSerGluGlnPheGlyValValMetGlyThrValProArgLeuArgProArgLeuAsnAlaIleLeuPheLysLeuGlnPheSerGluGlnValGluAsnIleLysProGluIleValSerValThrAlaAlaCysGluGluLeuArgLysSerGluSerPheSerAsnLeuLeuGluIleThrLeuLeuValGlyAsnTyrMetAsnAlaGlySerArgAsnAlaGlyAlaPheGlyPheAsnIleSerPheLeuCysLysLeuArgAspThrLysSerThrAspGlnLysMetThrLeuLeuHisPheLeuAlaGluLeuCysGluAsnAspTyrProAspValLeuLysPheProAspGluLeuAlaHisValGluLysAlaSerArgValSerAlaGluAsnLeuGlnLysAsnLeuAspGlnMetLysLysGlnIleSerAspValGluArgAspValGlnAsnPheProAlaAlaThrAspGluLysAspLysPheValGluLysMetThrSerPheValLysAspAlaGlnGluGlnTyrAsnLysLeuArgMetMetHisSerAsnMetGluThrLeuTyrLysGluLeuGlyGluTyrPheLeuPheAspProLysLysLeuSerValGluGluPhePheMetAspLeuHisAsnPheArgAsnMetPheLeuGlnAlaValLysGluAsnGlnLysArgArgGluThrGluGluLysMetArgArgAlaLysLeuAlaLysGluLysAlaGluLysGluArgLeuGluLysGlnGlnLysArgGluGlnLeuIleAspMetAsnAlaGluGlyAspGluThrGlyValMetAspSerLeuLeuGluAlaLeuGlnSerGlyAlaAlaPheArgArgLysArgGlyProArgGlnAlaAsnArgLysAlaGlyCysAlaValThrSerLeuLeuAlaSerGluLeuThrLysAspAspAlaMetAlaAlaValProAlaLysValSerLysAsnSerGluThrPheProThrIleLeuGluGluAlaLysGluLeuValGlyArgAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS345582" }, { "@id": "http://reg.genome.network/allele/PA210349", "coordinates": [ { "allele": "T", "end": 2446, "referenceAllele": "C", "start": 2445 } ], "gene": "http://reg.genome.network/gene/GN002876", "geneNCBI_id": 1729, "geneSymbol": "DIAPH1", "hgvs": [ "NM_001079812.2:c.2305C>T" ], "proteinEffect": { "hgvs": "NP_001073280.1:p.Gln769Ter", "hgvsWellDefined": "NP_001073280.1:p.Gln769_Ser1263delinsLeuArgArgProAsnTrpSerLysLeuValAlaGluAspLeuSerGlnAspCysPheTrpThrLysValLysGluAspArgPheGluAsnAsnGluLeuPheAlaLysLeuThrLeuThrPheSerAlaGlnThrLysThrSerLysAlaLysLysAspGlnGluGlyGlyGluGluLysLysSerValGlnLysLysLysValLysGluLeuLysValLeuAspSerLysThrAlaGlnAsnLeuSerIlePheLeuGlySerPheArgMetProTyrGlnGluIleLysAsnValIleLeuGluValAsnGluAlaValLeuThrGluSerMetIleGlnAsnLeuIleLysGlnMetProGluProGluGlnLeuLysMetLeuSerGluLeuLysAspGluTyrAspAspLeuAlaGluSerGluGlnPheGlyValValMetGlyThrValProArgLeuArgProArgLeuAsnAlaIleLeuPheLysLeuGlnPheSerGluGlnValGluAsnIleLysProGluIleValSerValThrAlaAlaCysGluGluLeuArgLysSerGluSerPheSerAsnLeuLeuGluIleThrLeuLeuValGlyAsnTyrMetAsnAlaGlySerArgAsnAlaGlyAlaPheGlyPheAsnIleSerPheLeuCysLysLeuArgAspThrLysSerThrAspGlnLysMetThrLeuLeuHisPheLeuAlaGluLeuCysGluAsnAspTyrProAspValLeuLysPheProAspGluLeuAlaHisValGluLysAlaSerArgValSerAlaGluAsnLeuGlnLysAsnLeuAspGlnMetLysLysGlnIleSerAspValGluArgAspValGlnAsnPheProAlaAlaThrAspGluLysAspLysPheValGluLysMetThrSerPheValLysAspAlaGlnGluGlnTyrAsnLysLeuArgMetMetHisSerAsnMetGluThrLeuTyrLysGluLeuGlyGluTyrPheLeuPheAspProLysLysLeuSerValGluGluPhePheMetAspLeuHisAsnPheArgAsnMetPheLeuGlnAlaValLysGluAsnGlnLysArgArgGluThrGluGluLysMetArgArgAlaLysLeuAlaLysGluLysAlaGluLysGluArgLeuGluLysGlnGlnLysArgGluGlnLeuIleAspMetAsnAlaGluGlyAspGluThrGlyValMetAspSerLeuLeuGluAlaLeuGlnSerGlyAlaAlaPheArgArgLysArgGlyProArgGlnAlaAsnArgLysAlaGlyCysAlaValThrSerLeuLeuAlaSerGluLeuThrLysAspAspAlaMetAlaAlaValProAlaLysValSerLysAsnSerGluThrPheProThrIleLeuGluGluAlaLysGluLeuValGlyArgAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010096" }, { "@id": "http://reg.genome.network/allele/PA2826949137", "coordinates": [ { "allele": "T", "end": 2473, "referenceAllele": "C", "start": 2472 } ], "gene": "http://reg.genome.network/gene/GN002876", "geneNCBI_id": 1729, "geneSymbol": "DIAPH1", "hgvs": [ "NM_001314007.1:c.2332C>T" ], "proteinEffect": { "hgvs": "NP_001300936.1:p.Gln778Ter", "hgvsWellDefined": "NP_001300936.1:p.Gln778_Cys1250delinsLeuArgArgProAsnTrpSerLysLeuValAlaGluAspLeuSerGlnAspCysPheTrpThrLysValLysGluAspArgPheGluAsnAsnGluLeuPheAlaLysLeuThrLeuThrPheSerAlaGlnThrLysThrSerLysAlaLysLysAspGlnGluGlyGlyGluGluLysLysSerValGlnLysLysLysValLysGluLeuLysValLeuAspSerLysThrAlaGlnAsnLeuSerIlePheLeuGlySerPheArgMetProTyrGlnGluIleLysAsnValIleLeuGluValAsnGluAlaValLeuThrGluSerMetIleGlnAsnLeuIleLysGlnMetProGluProGluGlnLeuLysMetLeuSerGluLeuLysAspGluTyrAspAspLeuAlaGluSerGluGlnPheGlyValValMetGlyThrValProArgLeuArgProArgLeuAsnAlaIleLeuPheLysLeuGlnPheSerGluGlnValGluAsnIleLysProGluIleValSerValThrAlaAlaCysGluGluLeuArgLysSerGluSerPheSerAsnLeuLeuGluIleThrLeuLeuValGlyAsnTyrMetAsnAlaGlySerArgAsnAlaGlyAlaPheGlyPheAsnIleSerPheLeuCysLysLeuArgAspThrLysSerThrAspGlnLysMetThrLeuLeuHisPheLeuAlaGluLeuCysGluAsnAspTyrProAspValLeuLysPheProAspGluLeuAlaHisValGluLysAlaSerArgValSerAlaGluAsnLeuGlnLysAsnLeuAspGlnMetLysLysGlnIleSerAspValGluArgAspValGlnAsnPheProAlaAlaThrAspGluLysAspLysPheValGluLysMetThrSerPheValLysAspAlaGlnGluGlnTyrAsnLysLeuArgMetMetHisSerAsnMetGluThrLeuTyrLysGluLeuGlyGluTyrPheLeuPheAspProLysLysLeuSerValGluGluPhePheMetAspLeuHisAsnPheArgAsnMetPheLeuGlnAlaValLysGluAsnGlnLysArgArgGluThrGluGluLysMetArgArgAlaLysLeuAlaLysGluLysAlaGluLysGluArgLeuGluLysGlnGlnLysArgGluGlnLeuIleAspMetAsnAlaGluGlyAspGluThrGlyValMetAspSerLeuLeuGluAlaLeuGlnSerGlyAlaAlaPheArgArgLysArgGlyProArgGlnAspAsnLeuLeuCysProTrpGluValGluGluGluGluGluThrPheLysLeuProThrGlyArgProGlyValGlnSerHisLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026512" }, { "@id": "http://reg.genome.network/allele/PA210350", "coordinates": [ { "allele": "T", "end": 2473, "referenceAllele": "C", "start": 2472 } ], "gene": "http://reg.genome.network/gene/GN002876", "geneNCBI_id": 1729, "geneSymbol": "DIAPH1", "hgvs": [ "NM_005219.4:c.2332C>T" ], "proteinEffect": { "hgvs": "NP_005210.3:p.Gln778Ter", "hgvsWellDefined": "NP_005210.3:p.Gln778_Ser1272delinsLeuArgArgProAsnTrpSerLysLeuValAlaGluAspLeuSerGlnAspCysPheTrpThrLysValLysGluAspArgPheGluAsnAsnGluLeuPheAlaLysLeuThrLeuThrPheSerAlaGlnThrLysThrSerLysAlaLysLysAspGlnGluGlyGlyGluGluLysLysSerValGlnLysLysLysValLysGluLeuLysValLeuAspSerLysThrAlaGlnAsnLeuSerIlePheLeuGlySerPheArgMetProTyrGlnGluIleLysAsnValIleLeuGluValAsnGluAlaValLeuThrGluSerMetIleGlnAsnLeuIleLysGlnMetProGluProGluGlnLeuLysMetLeuSerGluLeuLysAspGluTyrAspAspLeuAlaGluSerGluGlnPheGlyValValMetGlyThrValProArgLeuArgProArgLeuAsnAlaIleLeuPheLysLeuGlnPheSerGluGlnValGluAsnIleLysProGluIleValSerValThrAlaAlaCysGluGluLeuArgLysSerGluSerPheSerAsnLeuLeuGluIleThrLeuLeuValGlyAsnTyrMetAsnAlaGlySerArgAsnAlaGlyAlaPheGlyPheAsnIleSerPheLeuCysLysLeuArgAspThrLysSerThrAspGlnLysMetThrLeuLeuHisPheLeuAlaGluLeuCysGluAsnAspTyrProAspValLeuLysPheProAspGluLeuAlaHisValGluLysAlaSerArgValSerAlaGluAsnLeuGlnLysAsnLeuAspGlnMetLysLysGlnIleSerAspValGluArgAspValGlnAsnPheProAlaAlaThrAspGluLysAspLysPheValGluLysMetThrSerPheValLysAspAlaGlnGluGlnTyrAsnLysLeuArgMetMetHisSerAsnMetGluThrLeuTyrLysGluLeuGlyGluTyrPheLeuPheAspProLysLysLeuSerValGluGluPhePheMetAspLeuHisAsnPheArgAsnMetPheLeuGlnAlaValLysGluAsnGlnLysArgArgGluThrGluGluLysMetArgArgAlaLysLeuAlaLysGluLysAlaGluLysGluArgLeuGluLysGlnGlnLysArgGluGlnLeuIleAspMetAsnAlaGluGlyAspGluThrGlyValMetAspSerLeuLeuGluAlaLeuGlnSerGlyAlaAlaPheArgArgLysArgGlyProArgGlnAlaAsnArgLysAlaGlyCysAlaValThrSerLeuLeuAlaSerGluLeuThrLysAspAspAlaMetAlaAlaValProAlaLysValSerLysAsnSerGluThrPheProThrIleLeuGluGluAlaLysGluLeuValGlyArgAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030331" }, { "coordinates": [ { "allele": "T", "end": 2311, "referenceAllele": "C", "start": 2310 } ], "gene": "http://reg.genome.network/gene/GN002876", "geneNCBI_id": 1729, "geneSymbol": "DIAPH1", "hgvs": [ "XM_011537572.1:c.2296C>T" ], "proteinEffect": { "hgvs": "XP_011535874.1:p.Gln766Ter", "hgvsWellDefined": "XP_011535874.1:p.Gln766_Ser1260delinsLeuArgArgProAsnTrpSerLysLeuValAlaGluAspLeuSerGlnAspCysPheTrpThrLysValLysGluAspArgPheGluAsnAsnGluLeuPheAlaLysLeuThrLeuThrPheSerAlaGlnThrLysThrSerLysAlaLysLysAspGlnGluGlyGlyGluGluLysLysSerValGlnLysLysLysValLysGluLeuLysValLeuAspSerLysThrAlaGlnAsnLeuSerIlePheLeuGlySerPheArgMetProTyrGlnGluIleLysAsnValIleLeuGluValAsnGluAlaValLeuThrGluSerMetIleGlnAsnLeuIleLysGlnMetProGluProGluGlnLeuLysMetLeuSerGluLeuLysAspGluTyrAspAspLeuAlaGluSerGluGlnPheGlyValValMetGlyThrValProArgLeuArgProArgLeuAsnAlaIleLeuPheLysLeuGlnPheSerGluGlnValGluAsnIleLysProGluIleValSerValThrAlaAlaCysGluGluLeuArgLysSerGluSerPheSerAsnLeuLeuGluIleThrLeuLeuValGlyAsnTyrMetAsnAlaGlySerArgAsnAlaGlyAlaPheGlyPheAsnIleSerPheLeuCysLysLeuArgAspThrLysSerThrAspGlnLysMetThrLeuLeuHisPheLeuAlaGluLeuCysGluAsnAspTyrProAspValLeuLysPheProAspGluLeuAlaHisValGluLysAlaSerArgValSerAlaGluAsnLeuGlnLysAsnLeuAspGlnMetLysLysGlnIleSerAspValGluArgAspValGlnAsnPheProAlaAlaThrAspGluLysAspLysPheValGluLysMetThrSerPheValLysAspAlaGlnGluGlnTyrAsnLysLeuArgMetMetHisSerAsnMetGluThrLeuTyrLysGluLeuGlyGluTyrPheLeuPheAspProLysLysLeuSerValGluGluPhePheMetAspLeuHisAsnPheArgAsnMetPheLeuGlnAlaValLysGluAsnGlnLysArgArgGluThrGluGluLysMetArgArgAlaLysLeuAlaLysGluLysAlaGluLysGluArgLeuGluLysGlnGlnLysArgGluGlnLeuIleAspMetAsnAlaGluGlyAspGluThrGlyValMetAspSerLeuLeuGluAlaLeuGlnSerGlyAlaAlaPheArgArgLysArgGlyProArgGlnAlaAsnArgLysAlaGlyCysAlaValThrSerLeuLeuAlaSerGluLeuThrLysAspAspAlaMetAlaAlaValProAlaLysValSerLysAsnSerGluThrPheProThrIleLeuGluGluAlaLysGluLeuValGlyArgAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS104536" }, { "coordinates": [ { "allele": "T", "end": 2281, "referenceAllele": "C", "start": 2280 } ], "gene": "http://reg.genome.network/gene/GN002876", "geneNCBI_id": 1729, "geneSymbol": "DIAPH1", "hgvs": [ "XM_011537573.1:c.2266C>T" ], "proteinEffect": { "hgvs": "XP_011535875.1:p.Gln756Ter", "hgvsWellDefined": "XP_011535875.1:p.Gln756_Ser1250delinsLeuArgArgProAsnTrpSerLysLeuValAlaGluAspLeuSerGlnAspCysPheTrpThrLysValLysGluAspArgPheGluAsnAsnGluLeuPheAlaLysLeuThrLeuThrPheSerAlaGlnThrLysThrSerLysAlaLysLysAspGlnGluGlyGlyGluGluLysLysSerValGlnLysLysLysValLysGluLeuLysValLeuAspSerLysThrAlaGlnAsnLeuSerIlePheLeuGlySerPheArgMetProTyrGlnGluIleLysAsnValIleLeuGluValAsnGluAlaValLeuThrGluSerMetIleGlnAsnLeuIleLysGlnMetProGluProGluGlnLeuLysMetLeuSerGluLeuLysAspGluTyrAspAspLeuAlaGluSerGluGlnPheGlyValValMetGlyThrValProArgLeuArgProArgLeuAsnAlaIleLeuPheLysLeuGlnPheSerGluGlnValGluAsnIleLysProGluIleValSerValThrAlaAlaCysGluGluLeuArgLysSerGluSerPheSerAsnLeuLeuGluIleThrLeuLeuValGlyAsnTyrMetAsnAlaGlySerArgAsnAlaGlyAlaPheGlyPheAsnIleSerPheLeuCysLysLeuArgAspThrLysSerThrAspGlnLysMetThrLeuLeuHisPheLeuAlaGluLeuCysGluAsnAspTyrProAspValLeuLysPheProAspGluLeuAlaHisValGluLysAlaSerArgValSerAlaGluAsnLeuGlnLysAsnLeuAspGlnMetLysLysGlnIleSerAspValGluArgAspValGlnAsnPheProAlaAlaThrAspGluLysAspLysPheValGluLysMetThrSerPheValLysAspAlaGlnGluGlnTyrAsnLysLeuArgMetMetHisSerAsnMetGluThrLeuTyrLysGluLeuGlyGluTyrPheLeuPheAspProLysLysLeuSerValGluGluPhePheMetAspLeuHisAsnPheArgAsnMetPheLeuGlnAlaValLysGluAsnGlnLysArgArgGluThrGluGluLysMetArgArgAlaLysLeuAlaLysGluLysAlaGluLysGluArgLeuGluLysGlnGlnLysArgGluGlnLeuIleAspMetAsnAlaGluGlyAspGluThrGlyValMetAspSerLeuLeuGluAlaLeuGlnSerGlyAlaAlaPheArgArgLysArgGlyProArgGlnAlaAsnArgLysAlaGlyCysAlaValThrSerLeuLeuAlaSerGluLeuThrLysAspAspAlaMetAlaAlaValProAlaLysValSerLysAsnSerGluThrPheProThrIleLeuGluGluAlaLysGluLeuValGlyArgAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS104537" }, { "coordinates": [ { "allele": "T", "end": 2473, "referenceAllele": "C", "start": 2472 } ], "gene": "http://reg.genome.network/gene/GN002876", "geneNCBI_id": 1729, "geneSymbol": "DIAPH1", "hgvs": [ "XM_024454384.1:c.2332C>T" ], "proteinEffect": { "hgvs": "XP_024310152.1:p.Gln778Ter", "hgvsWellDefined": "XP_024310152.1:p.Gln778_Ser1313delinsLeuArgArgProAsnTrpSerLysLeuValAlaGluAspLeuSerGlnAspCysPheTrpThrLysValLysGluAspArgPheGluAsnAsnGluLeuPheAlaLysLeuThrLeuThrPheSerAlaGlnThrLysThrSerLysAlaLysLysAspGlnGluGlyGlyGluGluLysLysSerValGlnLysLysLysValLysGluLeuLysValLeuAspSerLysThrAlaGlnAsnLeuSerIlePheLeuGlySerPheArgMetProTyrGlnGluIleLysAsnValIleLeuGluValAsnGluAlaValLeuThrGluSerMetIleGlnAsnLeuIleLysGlnMetProGluProGluGlnLeuLysMetLeuSerGluLeuLysAspGluTyrAspAspLeuAlaGluSerGluGlnPheGlyValValMetGlyThrValProArgLeuArgProArgLeuAsnAlaIleLeuPheLysLeuGlnPheSerGluGlnValGluAsnIleLysProGluIleValSerValThrAlaAlaCysGluGluLeuArgLysSerGluSerPheSerAsnLeuLeuGluIleThrLeuLeuValGlyAsnTyrMetAsnAlaGlySerArgAsnAlaGlyAlaPheGlyPheAsnIleSerPheLeuCysLysLeuArgAspThrLysSerThrAspGlnLysMetThrLeuLeuHisPheLeuAlaGluLeuCysGluAsnAspTyrProAspValLeuLysPheProAspGluLeuAlaHisValGluLysAlaSerArgValSerAlaGluAsnLeuGlnLysAsnLeuAspGlnMetLysLysGlnIleSerAspValGluArgAspValGlnAsnPheProAlaAlaThrAspGluLysAspLysPheValGluLysMetThrSerPheValLysAspAlaGlnGluGlnTyrAsnLysLeuArgMetMetHisSerAsnMetGluThrLeuTyrLysGluLeuGlyGluTyrPheLeuPheAspProLysLysLeuSerValGluGluPhePheMetAspLeuHisAsnPheArgAsnMetPheLeuValSerLysGlyTyrLeuLeuThrGluSerPheValGlyIleSerHisPheProLeuGlySerCysTrpLeuValValGlyIleGlnCysProCysValProSerSerSerSerLeuProGlnGlnAlaValLysGluAsnGlnLysArgArgGluThrGluGluLysMetArgArgAlaLysLeuAlaLysGluLysAlaGluLysGluArgLeuGluLysGlnGlnLysArgGluGlnLeuIleAspMetAsnAlaGluGlyAspGluThrGlyValMetAspSerLeuLeuGluAlaLeuGlnSerGlyAlaAlaPheArgArgLysArgGlyProArgGlnAlaAsnArgLysAlaGlyCysAlaValThrSerLeuLeuAlaSerGluLeuThrLysAspAspAlaMetAlaAlaValProAlaLysValSerLysAsnSerGluThrPheProThrIleLeuGluGluAlaLysGluLeuValGlyArgAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS587746" }, { "coordinates": [ { "allele": "T", "end": 2397, "referenceAllele": "C", "start": 2396 } ], "gene": "http://reg.genome.network/gene/GN002876", "geneNCBI_id": 1729, "geneSymbol": "DIAPH1", "hgvs": [ "XM_024454385.1:c.2305C>T" ], "proteinEffect": { "hgvs": "XP_024310153.1:p.Gln769Ter", "hgvsWellDefined": "XP_024310153.1:p.Gln769_Ser1304delinsLeuArgArgProAsnTrpSerLysLeuValAlaGluAspLeuSerGlnAspCysPheTrpThrLysValLysGluAspArgPheGluAsnAsnGluLeuPheAlaLysLeuThrLeuThrPheSerAlaGlnThrLysThrSerLysAlaLysLysAspGlnGluGlyGlyGluGluLysLysSerValGlnLysLysLysValLysGluLeuLysValLeuAspSerLysThrAlaGlnAsnLeuSerIlePheLeuGlySerPheArgMetProTyrGlnGluIleLysAsnValIleLeuGluValAsnGluAlaValLeuThrGluSerMetIleGlnAsnLeuIleLysGlnMetProGluProGluGlnLeuLysMetLeuSerGluLeuLysAspGluTyrAspAspLeuAlaGluSerGluGlnPheGlyValValMetGlyThrValProArgLeuArgProArgLeuAsnAlaIleLeuPheLysLeuGlnPheSerGluGlnValGluAsnIleLysProGluIleValSerValThrAlaAlaCysGluGluLeuArgLysSerGluSerPheSerAsnLeuLeuGluIleThrLeuLeuValGlyAsnTyrMetAsnAlaGlySerArgAsnAlaGlyAlaPheGlyPheAsnIleSerPheLeuCysLysLeuArgAspThrLysSerThrAspGlnLysMetThrLeuLeuHisPheLeuAlaGluLeuCysGluAsnAspTyrProAspValLeuLysPheProAspGluLeuAlaHisValGluLysAlaSerArgValSerAlaGluAsnLeuGlnLysAsnLeuAspGlnMetLysLysGlnIleSerAspValGluArgAspValGlnAsnPheProAlaAlaThrAspGluLysAspLysPheValGluLysMetThrSerPheValLysAspAlaGlnGluGlnTyrAsnLysLeuArgMetMetHisSerAsnMetGluThrLeuTyrLysGluLeuGlyGluTyrPheLeuPheAspProLysLysLeuSerValGluGluPhePheMetAspLeuHisAsnPheArgAsnMetPheLeuValSerLysGlyTyrLeuLeuThrGluSerPheValGlyIleSerHisPheProLeuGlySerCysTrpLeuValValGlyIleGlnCysProCysValProSerSerSerSerLeuProGlnGlnAlaValLysGluAsnGlnLysArgArgGluThrGluGluLysMetArgArgAlaLysLeuAlaLysGluLysAlaGluLysGluArgLeuGluLysGlnGlnLysArgGluGlnLeuIleAspMetAsnAlaGluGlyAspGluThrGlyValMetAspSerLeuLeuGluAlaLeuGlnSerGlyAlaAlaPheArgArgLysArgGlyProArgGlnAlaAsnArgLysAlaGlyCysAlaValThrSerLeuLeuAlaSerGluLeuThrLysAspAspAlaMetAlaAlaValProAlaLysValSerLysAsnSerGluThrPheProThrIleLeuGluGluAlaLysGluLeuValGlyArgAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS587747" }, { "coordinates": [ { "allele": "T", "end": 3054, "referenceAllele": "C", "start": 3053 } ], "gene": "http://reg.genome.network/gene/GN002876", "geneNCBI_id": 1729, "geneSymbol": "DIAPH1", "hgvs": [ "XM_024454386.1:c.2296C>T" ], "proteinEffect": { "hgvs": "XP_024310154.1:p.Gln766Ter", "hgvsWellDefined": "XP_024310154.1:p.Gln766_Ser1301delinsLeuArgArgProAsnTrpSerLysLeuValAlaGluAspLeuSerGlnAspCysPheTrpThrLysValLysGluAspArgPheGluAsnAsnGluLeuPheAlaLysLeuThrLeuThrPheSerAlaGlnThrLysThrSerLysAlaLysLysAspGlnGluGlyGlyGluGluLysLysSerValGlnLysLysLysValLysGluLeuLysValLeuAspSerLysThrAlaGlnAsnLeuSerIlePheLeuGlySerPheArgMetProTyrGlnGluIleLysAsnValIleLeuGluValAsnGluAlaValLeuThrGluSerMetIleGlnAsnLeuIleLysGlnMetProGluProGluGlnLeuLysMetLeuSerGluLeuLysAspGluTyrAspAspLeuAlaGluSerGluGlnPheGlyValValMetGlyThrValProArgLeuArgProArgLeuAsnAlaIleLeuPheLysLeuGlnPheSerGluGlnValGluAsnIleLysProGluIleValSerValThrAlaAlaCysGluGluLeuArgLysSerGluSerPheSerAsnLeuLeuGluIleThrLeuLeuValGlyAsnTyrMetAsnAlaGlySerArgAsnAlaGlyAlaPheGlyPheAsnIleSerPheLeuCysLysLeuArgAspThrLysSerThrAspGlnLysMetThrLeuLeuHisPheLeuAlaGluLeuCysGluAsnAspTyrProAspValLeuLysPheProAspGluLeuAlaHisValGluLysAlaSerArgValSerAlaGluAsnLeuGlnLysAsnLeuAspGlnMetLysLysGlnIleSerAspValGluArgAspValGlnAsnPheProAlaAlaThrAspGluLysAspLysPheValGluLysMetThrSerPheValLysAspAlaGlnGluGlnTyrAsnLysLeuArgMetMetHisSerAsnMetGluThrLeuTyrLysGluLeuGlyGluTyrPheLeuPheAspProLysLysLeuSerValGluGluPhePheMetAspLeuHisAsnPheArgAsnMetPheLeuValSerLysGlyTyrLeuLeuThrGluSerPheValGlyIleSerHisPheProLeuGlySerCysTrpLeuValValGlyIleGlnCysProCysValProSerSerSerSerLeuProGlnGlnAlaValLysGluAsnGlnLysArgArgGluThrGluGluLysMetArgArgAlaLysLeuAlaLysGluLysAlaGluLysGluArgLeuGluLysGlnGlnLysArgGluGlnLeuIleAspMetAsnAlaGluGlyAspGluThrGlyValMetAspSerLeuLeuGluAlaLeuGlnSerGlyAlaAlaPheArgArgLysArgGlyProArgGlnAlaAsnArgLysAlaGlyCysAlaValThrSerLeuLeuAlaSerGluLeuThrLysAspAspAlaMetAlaAlaValProAlaLysValSerLysAsnSerGluThrPheProThrIleLeuGluGluAlaLysGluLeuValGlyArgAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS587748" }, { "coordinates": [ { "allele": "T", "end": 2281, "referenceAllele": "C", "start": 2280 } ], "gene": "http://reg.genome.network/gene/GN002876", "geneNCBI_id": 1729, "geneSymbol": "DIAPH1", "hgvs": [ "XM_024454387.1:c.2266C>T" ], "proteinEffect": { "hgvs": "XP_024310155.1:p.Gln756Ter", "hgvsWellDefined": "XP_024310155.1:p.Gln756_Ser1291delinsLeuArgArgProAsnTrpSerLysLeuValAlaGluAspLeuSerGlnAspCysPheTrpThrLysValLysGluAspArgPheGluAsnAsnGluLeuPheAlaLysLeuThrLeuThrPheSerAlaGlnThrLysThrSerLysAlaLysLysAspGlnGluGlyGlyGluGluLysLysSerValGlnLysLysLysValLysGluLeuLysValLeuAspSerLysThrAlaGlnAsnLeuSerIlePheLeuGlySerPheArgMetProTyrGlnGluIleLysAsnValIleLeuGluValAsnGluAlaValLeuThrGluSerMetIleGlnAsnLeuIleLysGlnMetProGluProGluGlnLeuLysMetLeuSerGluLeuLysAspGluTyrAspAspLeuAlaGluSerGluGlnPheGlyValValMetGlyThrValProArgLeuArgProArgLeuAsnAlaIleLeuPheLysLeuGlnPheSerGluGlnValGluAsnIleLysProGluIleValSerValThrAlaAlaCysGluGluLeuArgLysSerGluSerPheSerAsnLeuLeuGluIleThrLeuLeuValGlyAsnTyrMetAsnAlaGlySerArgAsnAlaGlyAlaPheGlyPheAsnIleSerPheLeuCysLysLeuArgAspThrLysSerThrAspGlnLysMetThrLeuLeuHisPheLeuAlaGluLeuCysGluAsnAspTyrProAspValLeuLysPheProAspGluLeuAlaHisValGluLysAlaSerArgValSerAlaGluAsnLeuGlnLysAsnLeuAspGlnMetLysLysGlnIleSerAspValGluArgAspValGlnAsnPheProAlaAlaThrAspGluLysAspLysPheValGluLysMetThrSerPheValLysAspAlaGlnGluGlnTyrAsnLysLeuArgMetMetHisSerAsnMetGluThrLeuTyrLysGluLeuGlyGluTyrPheLeuPheAspProLysLysLeuSerValGluGluPhePheMetAspLeuHisAsnPheArgAsnMetPheLeuValSerLysGlyTyrLeuLeuThrGluSerPheValGlyIleSerHisPheProLeuGlySerCysTrpLeuValValGlyIleGlnCysProCysValProSerSerSerSerLeuProGlnGlnAlaValLysGluAsnGlnLysArgArgGluThrGluGluLysMetArgArgAlaLysLeuAlaLysGluLysAlaGluLysGluArgLeuGluLysGlnGlnLysArgGluGlnLeuIleAspMetAsnAlaGluGlyAspGluThrGlyValMetAspSerLeuLeuGluAlaLeuGlnSerGlyAlaAlaPheArgArgLysArgGlyProArgGlnAlaAsnArgLysAlaGlyCysAlaValThrSerLeuLeuAlaSerGluLeuThrLysAspAspAlaMetAlaAlaValProAlaLysValSerLysAsnSerGluThrPheProThrIleLeuGluGluAlaLysGluLeuValGlyArgAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS587749" }, { "@id": "http://reg.genome.network/allele/PA210350", "coordinates": [ { "allele": "T", "end": 2418, "referenceAllele": "C", "start": 2417 } ], "gene": "http://reg.genome.network/gene/GN002876", "geneNCBI_id": 1729, "geneSymbol": "DIAPH1", "hgvs": [ "NM_005219.5:c.2332C>T" ], "proteinEffect": { "hgvs": "NP_005210.3:p.Gln778Ter", "hgvsWellDefined": "NP_005210.3:p.Gln778_Ser1272delinsLeuArgArgProAsnTrpSerLysLeuValAlaGluAspLeuSerGlnAspCysPheTrpThrLysValLysGluAspArgPheGluAsnAsnGluLeuPheAlaLysLeuThrLeuThrPheSerAlaGlnThrLysThrSerLysAlaLysLysAspGlnGluGlyGlyGluGluLysLysSerValGlnLysLysLysValLysGluLeuLysValLeuAspSerLysThrAlaGlnAsnLeuSerIlePheLeuGlySerPheArgMetProTyrGlnGluIleLysAsnValIleLeuGluValAsnGluAlaValLeuThrGluSerMetIleGlnAsnLeuIleLysGlnMetProGluProGluGlnLeuLysMetLeuSerGluLeuLysAspGluTyrAspAspLeuAlaGluSerGluGlnPheGlyValValMetGlyThrValProArgLeuArgProArgLeuAsnAlaIleLeuPheLysLeuGlnPheSerGluGlnValGluAsnIleLysProGluIleValSerValThrAlaAlaCysGluGluLeuArgLysSerGluSerPheSerAsnLeuLeuGluIleThrLeuLeuValGlyAsnTyrMetAsnAlaGlySerArgAsnAlaGlyAlaPheGlyPheAsnIleSerPheLeuCysLysLeuArgAspThrLysSerThrAspGlnLysMetThrLeuLeuHisPheLeuAlaGluLeuCysGluAsnAspTyrProAspValLeuLysPheProAspGluLeuAlaHisValGluLysAlaSerArgValSerAlaGluAsnLeuGlnLysAsnLeuAspGlnMetLysLysGlnIleSerAspValGluArgAspValGlnAsnPheProAlaAlaThrAspGluLysAspLysPheValGluLysMetThrSerPheValLysAspAlaGlnGluGlnTyrAsnLysLeuArgMetMetHisSerAsnMetGluThrLeuTyrLysGluLeuGlyGluTyrPheLeuPheAspProLysLysLeuSerValGluGluPhePheMetAspLeuHisAsnPheArgAsnMetPheLeuGlnAlaValLysGluAsnGlnLysArgArgGluThrGluGluLysMetArgArgAlaLysLeuAlaLysGluLysAlaGluLysGluArgLeuGluLysGlnGlnLysArgGluGlnLeuIleAspMetAsnAlaGluGlyAspGluThrGlyValMetAspSerLeuLeuGluAlaLeuGlnSerGlyAlaAlaPheArgArgLysArgGlyProArgGlnAlaAsnArgLysAlaGlyCysAlaValThrSerLeuLeuAlaSerGluLeuThrLysAspAspAlaMetAlaAlaValProAlaLysValSerLysAsnSerGluThrPheProThrIleLeuGluGluAlaLysGluLeuValGlyArgAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS666866", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389054.8:c.2332C>T" }, "RefSeq": { "hgvs": "NM_005219.5:c.2332C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000373706.4:p.Gln778Ter" }, "RefSeq": { "hgvs": "NP_005210.3:p.Gln778Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA210349", "coordinates": [ { "allele": "T", "end": 2391, "referenceAllele": "C", "start": 2390 } ], "gene": "http://reg.genome.network/gene/GN002876", "geneNCBI_id": 1729, "geneSymbol": "DIAPH1", "hgvs": [ "NM_001079812.3:c.2305C>T" ], "proteinEffect": { "hgvs": "NP_001073280.1:p.Gln769Ter", "hgvsWellDefined": "NP_001073280.1:p.Gln769_Ser1263delinsLeuArgArgProAsnTrpSerLysLeuValAlaGluAspLeuSerGlnAspCysPheTrpThrLysValLysGluAspArgPheGluAsnAsnGluLeuPheAlaLysLeuThrLeuThrPheSerAlaGlnThrLysThrSerLysAlaLysLysAspGlnGluGlyGlyGluGluLysLysSerValGlnLysLysLysValLysGluLeuLysValLeuAspSerLysThrAlaGlnAsnLeuSerIlePheLeuGlySerPheArgMetProTyrGlnGluIleLysAsnValIleLeuGluValAsnGluAlaValLeuThrGluSerMetIleGlnAsnLeuIleLysGlnMetProGluProGluGlnLeuLysMetLeuSerGluLeuLysAspGluTyrAspAspLeuAlaGluSerGluGlnPheGlyValValMetGlyThrValProArgLeuArgProArgLeuAsnAlaIleLeuPheLysLeuGlnPheSerGluGlnValGluAsnIleLysProGluIleValSerValThrAlaAlaCysGluGluLeuArgLysSerGluSerPheSerAsnLeuLeuGluIleThrLeuLeuValGlyAsnTyrMetAsnAlaGlySerArgAsnAlaGlyAlaPheGlyPheAsnIleSerPheLeuCysLysLeuArgAspThrLysSerThrAspGlnLysMetThrLeuLeuHisPheLeuAlaGluLeuCysGluAsnAspTyrProAspValLeuLysPheProAspGluLeuAlaHisValGluLysAlaSerArgValSerAlaGluAsnLeuGlnLysAsnLeuAspGlnMetLysLysGlnIleSerAspValGluArgAspValGlnAsnPheProAlaAlaThrAspGluLysAspLysPheValGluLysMetThrSerPheValLysAspAlaGlnGluGlnTyrAsnLysLeuArgMetMetHisSerAsnMetGluThrLeuTyrLysGluLeuGlyGluTyrPheLeuPheAspProLysLysLeuSerValGluGluPhePheMetAspLeuHisAsnPheArgAsnMetPheLeuGlnAlaValLysGluAsnGlnLysArgArgGluThrGluGluLysMetArgArgAlaLysLeuAlaLysGluLysAlaGluLysGluArgLeuGluLysGlnGlnLysArgGluGlnLeuIleAspMetAsnAlaGluGlyAspGluThrGlyValMetAspSerLeuLeuGluAlaLeuGlnSerGlyAlaAlaPheArgArgLysArgGlyProArgGlnAlaAsnArgLysAlaGlyCysAlaValThrSerLeuLeuAlaSerGluLeuThrLysAspAspAlaMetAlaAlaValProAlaLysValSerLysAsnSerGluThrPheProThrIleLeuGluGluAlaLysGluLeuValGlyArgAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676223" }, { "@id": "http://reg.genome.network/allele/PA2826949137", "coordinates": [ { "allele": "T", "end": 2418, "referenceAllele": "C", "start": 2417 } ], "gene": "http://reg.genome.network/gene/GN002876", "geneNCBI_id": 1729, "geneSymbol": "DIAPH1", "hgvs": [ "NM_001314007.2:c.2332C>T" ], "proteinEffect": { "hgvs": "NP_001300936.1:p.Gln778Ter", "hgvsWellDefined": "NP_001300936.1:p.Gln778_Cys1250delinsLeuArgArgProAsnTrpSerLysLeuValAlaGluAspLeuSerGlnAspCysPheTrpThrLysValLysGluAspArgPheGluAsnAsnGluLeuPheAlaLysLeuThrLeuThrPheSerAlaGlnThrLysThrSerLysAlaLysLysAspGlnGluGlyGlyGluGluLysLysSerValGlnLysLysLysValLysGluLeuLysValLeuAspSerLysThrAlaGlnAsnLeuSerIlePheLeuGlySerPheArgMetProTyrGlnGluIleLysAsnValIleLeuGluValAsnGluAlaValLeuThrGluSerMetIleGlnAsnLeuIleLysGlnMetProGluProGluGlnLeuLysMetLeuSerGluLeuLysAspGluTyrAspAspLeuAlaGluSerGluGlnPheGlyValValMetGlyThrValProArgLeuArgProArgLeuAsnAlaIleLeuPheLysLeuGlnPheSerGluGlnValGluAsnIleLysProGluIleValSerValThrAlaAlaCysGluGluLeuArgLysSerGluSerPheSerAsnLeuLeuGluIleThrLeuLeuValGlyAsnTyrMetAsnAlaGlySerArgAsnAlaGlyAlaPheGlyPheAsnIleSerPheLeuCysLysLeuArgAspThrLysSerThrAspGlnLysMetThrLeuLeuHisPheLeuAlaGluLeuCysGluAsnAspTyrProAspValLeuLysPheProAspGluLeuAlaHisValGluLysAlaSerArgValSerAlaGluAsnLeuGlnLysAsnLeuAspGlnMetLysLysGlnIleSerAspValGluArgAspValGlnAsnPheProAlaAlaThrAspGluLysAspLysPheValGluLysMetThrSerPheValLysAspAlaGlnGluGlnTyrAsnLysLeuArgMetMetHisSerAsnMetGluThrLeuTyrLysGluLeuGlyGluTyrPheLeuPheAspProLysLysLeuSerValGluGluPhePheMetAspLeuHisAsnPheArgAsnMetPheLeuGlnAlaValLysGluAsnGlnLysArgArgGluThrGluGluLysMetArgArgAlaLysLeuAlaLysGluLysAlaGluLysGluArgLeuGluLysGlnGlnLysArgGluGlnLeuIleAspMetAsnAlaGluGlyAspGluThrGlyValMetAspSerLeuLeuGluAlaLeuGlnSerGlyAlaAlaPheArgArgLysArgGlyProArgGlnAspAsnLeuLeuCysProTrpGluValGluGluGluGluGluThrPheLysLeuProThrGlyArgProGlyValGlnSerHisLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684120" } ], "type": "nucleotide" }