{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16609451", "communityStandardTitle": [ "NM_001009944.3(PKD1):c.12310_12311del (p.Val4104TyrfsTer?)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=384492[alleleid]", "alleleId": 384492, "preferredName": "NM_001009944.3(PKD1):c.12310_12311del (p.Val4104fs)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/397614", "RCV": [ "RCV000449570" ], "variationId": 397614 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2140419_2140420del?assembly=hg19", "id": "chr16:g.2140419_2140420del" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2090418_2090419del?assembly=hg38", "id": "chr16:g.2090418_2090419del" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1060499718", "rs": 1060499718 } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "", "end": 2090420, "referenceAllele": "CA", "start": 2090418 } ], "hgvs": [ "NC_000016.10:g.2090419_2090420del", "CM000678.2:g.2090419_2090420del" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "", "end": 2140421, "referenceAllele": "CA", "start": 2140419 } ], "hgvs": [ "NC_000016.9:g.2140420_2140421del", "CM000678.1:g.2140420_2140421del" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "", "end": 2080422, "referenceAllele": "CA", "start": 2080420 } ], "hgvs": [ "NC_000016.8:g.2080421_2080422del" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "", "end": 46115, "referenceAllele": "CA", "start": 46113 } ], "hgvs": [ "NG_005895.1:g.46114_46115del", "LRG_487:g.46114_46115del" ], "referenceSequence": "http://reg.genome.network/refseq/RS000437" }, { "coordinates": [ { "allele": "", "end": 52803, "referenceAllele": "TG", "start": 52801 } ], "hgvs": [ "NG_008617.1:g.52802_52803del" ], "referenceSequence": "http://reg.genome.network/refseq/RS001129" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "", "end": 12520, "referenceAllele": "TG", "start": 12518 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "ENST00000262304.9:c.12310_12311del" ], "proteinEffect": { "hgvs": "ENSP00000262304.4:p.Val4104TyrfsTer?", "hgvsWellDefined": "ENSP00000262304.4:p.[Val4104_Ile4105delinsTyrSerPro;Arg4107_His4111delinsAlaLeuProArgLeu;Leu4113Trp;Gly4115_Pro4120delinsAlaValProAlaGlyLeuGly;Trp4122_Gln4125delinsProGlyLeuArg;Tyr4127_Met4129delinsGlyGlyVal;Glu4131_Phe4133delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS742318", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000262304.9:c.12310_12311del" }, "RefSeq": { "hgvs": "NM_001009944.3:c.12310_12311del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000262304.4:p.Val4104TyrfsTer?" }, "RefSeq": { "hgvs": "NP_001009944.3:p.Val4104TyrfsTer?" } } } }, { "coordinates": [ { "allele": "", "end": 12520, "referenceAllele": "TG", "start": 12518 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "ENST00000262304.8:c.12310_12311del" ], "proteinEffect": { "hgvs": "ENSP00000262304.4:p.Val4104TyrfsTer?", "hgvsWellDefined": "ENSP00000262304.4:p.[Val4104_Ile4105delinsTyrSerPro;Arg4107_His4111delinsAlaLeuProArgLeu;Leu4113Trp;Gly4115_Pro4120delinsAlaValProAlaGlyLeuGly;Trp4122_Gln4125delinsProGlyLeuArg;Tyr4127_Met4129delinsGlyGlyVal;Glu4131_Phe4133delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS250982" }, { "coordinates": [ { "allele": "", "end": 12517, "referenceAllele": "TG", "start": 12515 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "ENST00000423118.5:c.12307_12308del" ], "proteinEffect": { "hgvs": "ENSP00000399501.1:p.Val4103TyrfsTer?", "hgvsWellDefined": "ENSP00000399501.1:p.[Val4103_Ile4104delinsTyrSerPro;Arg4106_His4110delinsAlaLeuProArgLeu;Leu4112Trp;Gly4114_Pro4119delinsAlaValProAlaGlyLeuGly;Trp4121_Gln4124delinsProGlyLeuArg;Tyr4126_Met4128delinsGlyGlyVal;Glu4130_Phe4132delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS287603" }, { "coordinates": [ { "allele": "", "end": 339, "referenceAllele": "TG", "start": 337 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "ENST00000472577.1:n.338_339del" ], "referenceSequence": "http://reg.genome.network/refseq/RS314514" }, { "coordinates": [ { "allele": "", "end": 12517, "referenceAllele": "TG", "start": 12515 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "NM_000296.3:c.12307_12308del" ], "proteinEffect": { "hgvs": "NP_000287.3:p.Val4103TyrfsTer?", "hgvsWellDefined": "NP_000287.3:p.[Val4103_Ile4104delinsTyrSerPro;Arg4106_His4110delinsAlaLeuProArgLeu;Leu4112Trp;Gly4114_Pro4119delinsAlaValProAlaGlyLeuGly;Trp4121_Gln4124delinsProGlyLeuArg;Tyr4126_Met4128delinsGlyGlyVal;Glu4130_Phe4132delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS006357" }, { "coordinates": [ { "allele": "", "end": 12520, "referenceAllele": "TG", "start": 12518 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "NM_001009944.2:c.12310_12311del" ], "proteinEffect": { "hgvs": "NP_001009944.2:p.Val4104TyrfsTer?", "hgvsWellDefined": "NP_001009944.2:p.[Val4104_Ile4105delinsTyrSerPro;Arg4107_His4111delinsAlaLeuProArgLeu;Leu4113Trp;Gly4115_Pro4120delinsAlaValProAlaGlyLeuGly;Trp4122_Gln4125delinsProGlyLeuArg;Tyr4127_Met4129delinsGlyGlyVal;Glu4131_Phe4133delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS008121" }, { "coordinates": [ { "allele": "", "end": 9419, "referenceAllele": "TG", "start": 9417 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_005255370.2:c.9265_9266del" ], "proteinEffect": { "hgvs": "XP_005255427.1:p.Val3089TyrfsTer?", "hgvsWellDefined": "XP_005255427.1:p.[Val3089_Ile3090delinsTyrSerPro;Arg3092_His3096delinsAlaLeuProArgLeu;Leu3098Trp;Gly3100_Pro3105delinsAlaValProAlaGlyLeuGly;Trp3107_Gln3110delinsProGlyLeuArg;Tyr3112_Met3114delinsGlyGlyVal;Glu3116_Phe3118delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS060926" }, { "coordinates": [ { "allele": "", "end": 12404, "referenceAllele": "TG", "start": 12402 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522525.1:c.12388_12389del" ], "proteinEffect": { "hgvs": "XP_011520827.1:p.Val4130TyrfsTer?", "hgvsWellDefined": "XP_011520827.1:p.[Val4130_Ile4131delinsTyrSerPro;Arg4133_His4137delinsAlaLeuProArgLeu;Leu4139Trp;Gly4141_Pro4146delinsAlaValProAlaGlyLeuGly;Trp4148_Gln4151delinsProGlyLeuArg;Tyr4153_Met4155delinsGlyGlyVal;Glu4157_Phe4159delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS089676" }, { "coordinates": [ { "allele": "", "end": 12401, "referenceAllele": "TG", "start": 12399 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522526.1:c.12385_12386del" ], "proteinEffect": { "hgvs": "XP_011520828.1:p.Val4129TyrfsTer?", "hgvsWellDefined": "XP_011520828.1:p.[Val4129_Ile4130delinsTyrSerPro;Arg4132_His4136delinsAlaLeuProArgLeu;Leu4138Trp;Gly4140_Pro4145delinsAlaValProAlaGlyLeuGly;Trp4147_Gln4150delinsProGlyLeuArg;Tyr4152_Met4154delinsGlyGlyVal;Glu4156_Phe4158delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS089677" }, { "coordinates": [ { "allele": "", "end": 12386, "referenceAllele": "TG", "start": 12384 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522527.1:c.12370_12371del" ], "proteinEffect": { "hgvs": "XP_011520829.1:p.Val4124TyrfsTer?", "hgvsWellDefined": "XP_011520829.1:p.[Val4124_Ile4125delinsTyrSerPro;Arg4127_His4131delinsAlaLeuProArgLeu;Leu4133Trp;Gly4135_Pro4140delinsAlaValProAlaGlyLeuGly;Trp4142_Gln4145delinsProGlyLeuArg;Tyr4147_Met4149delinsGlyGlyVal;Glu4151_Phe4153delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS089678" }, { "coordinates": [ { "allele": "", "end": 12380, "referenceAllele": "TG", "start": 12378 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522528.1:c.12364_12365del" ], "proteinEffect": { "hgvs": "XP_011520830.1:p.Val4122TyrfsTer?", "hgvsWellDefined": "XP_011520830.1:p.[Val4122_Ile4123delinsTyrSerPro;Arg4125_His4129delinsAlaLeuProArgLeu;Leu4131Trp;Gly4133_Pro4138delinsAlaValProAlaGlyLeuGly;Trp4140_Gln4143delinsProGlyLeuArg;Tyr4145_Met4147delinsGlyGlyVal;Glu4149_Phe4151delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS089679" }, { "coordinates": [ { "allele": "", "end": 12377, "referenceAllele": "TG", "start": 12375 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522529.1:c.12361_12362del" ], "proteinEffect": { "hgvs": "XP_011520831.1:p.Val4121TyrfsTer?", "hgvsWellDefined": "XP_011520831.1:p.[Val4121_Ile4122delinsTyrSerPro;Arg4124_His4128delinsAlaLeuProArgLeu;Leu4130Trp;Gly4132_Pro4137delinsAlaValProAlaGlyLeuGly;Trp4139_Gln4142delinsProGlyLeuArg;Tyr4144_Met4146delinsGlyGlyVal;Glu4148_Phe4150delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS089680" }, { "coordinates": [ { "allele": "", "end": 12542, "referenceAllele": "TG", "start": 12540 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522530.1:c.12334_12335del" ], "proteinEffect": { "hgvs": "XP_011520832.1:p.Val4112TyrfsTer?", "hgvsWellDefined": "XP_011520832.1:p.[Val4112_Ile4113delinsTyrSerPro;Arg4115_His4119delinsAlaLeuProArgLeu;Leu4121Trp;Gly4123_Pro4128delinsAlaValProAlaGlyLeuGly;Trp4130_Gln4133delinsProGlyLeuArg;Tyr4135_Met4137delinsGlyGlyVal;Glu4139_Phe4141delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS089681" }, { "coordinates": [ { "allele": "", "end": 12332, "referenceAllele": "TG", "start": 12330 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522531.1:c.12316_12317del" ], "proteinEffect": { "hgvs": "XP_011520833.1:p.Val4106TyrfsTer?", "hgvsWellDefined": "XP_011520833.1:p.[Val4106_Ile4107delinsTyrSerPro;Arg4109_His4113delinsAlaLeuProArgLeu;Leu4115Trp;Gly4117_Pro4122delinsAlaValProAlaGlyLeuGly;Trp4124_Gln4127delinsProGlyLeuArg;Tyr4129_Met4131delinsGlyGlyVal;Glu4133_Phe4135delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS089682" }, { "coordinates": [ { "allele": "", "end": 12470, "referenceAllele": "TG", "start": 12468 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522532.1:c.12262_12263del" ], "proteinEffect": { "hgvs": "XP_011520834.1:p.Val4088TyrfsTer?", "hgvsWellDefined": "XP_011520834.1:p.[Val4088_Ile4089delinsTyrSerPro;Arg4091_His4095delinsAlaLeuProArgLeu;Leu4097Trp;Gly4099_Pro4104delinsAlaValProAlaGlyLeuGly;Trp4106_Gln4109delinsProGlyLeuArg;Tyr4111_Met4113delinsGlyGlyVal;Glu4115_Phe4117delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS089683" }, { "coordinates": [ { "allele": "", "end": 12197, "referenceAllele": "TG", "start": 12195 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522533.1:c.12181_12182del" ], "proteinEffect": { "hgvs": "XP_011520835.1:p.Val4061TyrfsTer?", "hgvsWellDefined": "XP_011520835.1:p.[Val4061_Ile4062delinsTyrSerPro;Arg4064_His4068delinsAlaLeuProArgLeu;Leu4070Trp;Gly4072_Pro4077delinsAlaValProAlaGlyLeuGly;Trp4079_Gln4082delinsProGlyLeuArg;Tyr4084_Met4086delinsGlyGlyVal;Glu4088_Phe4090delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS089684" }, { "coordinates": [ { "allele": "", "end": 12146, "referenceAllele": "TG", "start": 12144 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522534.1:c.12124_12125del" ], "proteinEffect": { "hgvs": "XP_011520836.1:p.Val4042TyrfsTer?", "hgvsWellDefined": "XP_011520836.1:p.[Val4042_Ile4043delinsTyrSerPro;Arg4045_His4049delinsAlaLeuProArgLeu;Leu4051Trp;Gly4053_Pro4058delinsAlaValProAlaGlyLeuGly;Trp4060_Gln4063delinsProGlyLeuArg;Tyr4065_Met4067delinsGlyGlyVal;Glu4069_Phe4071delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS089685" }, { "coordinates": [ { "allele": "", "end": 10560, "referenceAllele": "TG", "start": 10558 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522535.1:c.10210_10211del" ], "proteinEffect": { "hgvs": "XP_011520837.1:p.Val3404TyrfsTer?", "hgvsWellDefined": "XP_011520837.1:p.[Val3404_Ile3405delinsTyrSerPro;Arg3407_His3411delinsAlaLeuProArgLeu;Leu3413Trp;Gly3415_Pro3420delinsAlaValProAlaGlyLeuGly;Trp3422_Gln3425delinsProGlyLeuArg;Tyr3427_Met3429delinsGlyGlyVal;Glu3431_Phe3433delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS089686" }, { "coordinates": [ { "allele": "", "end": 9477, "referenceAllele": "TG", "start": 9475 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522537.1:c.9388_9389del" ], "proteinEffect": { "hgvs": "XP_011520839.1:p.Val3130TyrfsTer?", "hgvsWellDefined": "XP_011520839.1:p.[Val3130_Ile3131delinsTyrSerPro;Arg3133_His3137delinsAlaLeuProArgLeu;Leu3139Trp;Gly3141_Pro3146delinsAlaValProAlaGlyLeuGly;Trp3148_Gln3151delinsProGlyLeuArg;Tyr3153_Met3155delinsGlyGlyVal;Glu3157_Phe3159delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS089688" }, { "coordinates": [ { "allele": "", "end": 12229, "referenceAllele": "TG", "start": 12227 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XR_932867.1:n.12228_12229del" ], "referenceSequence": "http://reg.genome.network/refseq/RS128744" }, { "coordinates": [ { "allele": "", "end": 10107, "referenceAllele": "TG", "start": 10105 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_005255370.3:c.9265_9266del" ], "proteinEffect": { "hgvs": "XP_005255427.1:p.Val3089TyrfsTer?", "hgvsWellDefined": "XP_005255427.1:p.[Val3089_Ile3090delinsTyrSerPro;Arg3092_His3096delinsAlaLeuProArgLeu;Leu3098Trp;Gly3100_Pro3105delinsAlaValProAlaGlyLeuGly;Trp3107_Gln3110delinsProGlyLeuArg;Tyr3112_Met3114delinsGlyGlyVal;Glu3116_Phe3118delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS534274" }, { "coordinates": [ { "allele": "", "end": 12546, "referenceAllele": "TG", "start": 12544 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522528.3:c.12364_12365del" ], "proteinEffect": { "hgvs": "XP_011520830.1:p.Val4122TyrfsTer?", "hgvsWellDefined": "XP_011520830.1:p.[Val4122_Ile4123delinsTyrSerPro;Arg4125_His4129delinsAlaLeuProArgLeu;Leu4131Trp;Gly4133_Pro4138delinsAlaValProAlaGlyLeuGly;Trp4140_Gln4143delinsProGlyLeuArg;Tyr4145_Met4147delinsGlyGlyVal;Glu4149_Phe4151delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS546642" }, { "coordinates": [ { "allele": "", "end": 12543, "referenceAllele": "TG", "start": 12541 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522529.2:c.12361_12362del" ], "proteinEffect": { "hgvs": "XP_011520831.1:p.Val4121TyrfsTer?", "hgvsWellDefined": "XP_011520831.1:p.[Val4121_Ile4122delinsTyrSerPro;Arg4124_His4128delinsAlaLeuProArgLeu;Leu4130Trp;Gly4132_Pro4137delinsAlaValProAlaGlyLeuGly;Trp4139_Gln4142delinsProGlyLeuArg;Tyr4144_Met4146delinsGlyGlyVal;Glu4148_Phe4150delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS546643" }, { "coordinates": [ { "allele": "", "end": 9478, "referenceAllele": "TG", "start": 9476 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522537.2:c.9388_9389del" ], "proteinEffect": { "hgvs": "XP_011520839.1:p.Val3130TyrfsTer?", "hgvsWellDefined": "XP_011520839.1:p.[Val3130_Ile3131delinsTyrSerPro;Arg3133_His3137delinsAlaLeuProArgLeu;Leu3139Trp;Gly3141_Pro3146delinsAlaValProAlaGlyLeuGly;Trp3148_Gln3151delinsProGlyLeuArg;Tyr3153_Met3155delinsGlyGlyVal;Glu3157_Phe3159delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS546644" }, { "coordinates": [ { "allele": "", "end": 12446, "referenceAllele": "TG", "start": 12444 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_024450298.1:c.12430_12431del" ], "proteinEffect": { "hgvs": "XP_024306066.1:p.Val4144TyrfsTer?", "hgvsWellDefined": "XP_024306066.1:p.[Val4144_Ile4145delinsTyrSerPro;Arg4147_His4151delinsAlaLeuProArgLeu;Leu4153Trp;Gly4155_Pro4160delinsAlaValProAlaGlyLeuGly;Trp4162_Gln4165delinsProGlyLeuArg;Tyr4167_Met4169delinsGlyGlyVal;Glu4171_Phe4173delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS583838" }, { "coordinates": [ { "allele": "", "end": 12374, "referenceAllele": "TG", "start": 12372 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_024450299.1:c.12358_12359del" ], "proteinEffect": { "hgvs": "XP_024306067.1:p.Val4120TyrfsTer?", "hgvsWellDefined": "XP_024306067.1:p.[Val4120_Ile4121delinsTyrSerPro;Arg4123_His4127delinsAlaLeuProArgLeu;Leu4129Trp;Gly4131_Pro4136delinsAlaValProAlaGlyLeuGly;Trp4138_Gln4141delinsProGlyLeuArg;Tyr4143_Met4145delinsGlyGlyVal;Glu4147_Phe4149delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS583839" }, { "coordinates": [ { "allele": "", "end": 12432, "referenceAllele": "TG", "start": 12430 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_024450300.1:c.12220_12221del" ], "proteinEffect": { "hgvs": "XP_024306068.1:p.Val4074TyrfsTer?", "hgvsWellDefined": "XP_024306068.1:p.[Val4074_Ile4075delinsTyrSerPro;Arg4077_His4081delinsAlaLeuProArgLeu;Leu4083Trp;Gly4085_Pro4090delinsAlaValProAlaGlyLeuGly;Trp4092_Gln4095delinsProGlyLeuArg;Tyr4097_Met4099delinsGlyGlyVal;Glu4101_Phe4103delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS583840" }, { "coordinates": [ { "allele": "", "end": 10663, "referenceAllele": "TG", "start": 10661 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_024450301.1:c.10306_10307del" ], "proteinEffect": { "hgvs": "XP_024306069.1:p.Val3436TyrfsTer?", "hgvsWellDefined": "XP_024306069.1:p.[Val3436_Ile3437delinsTyrSerPro;Arg3439_His3443delinsAlaLeuProArgLeu;Leu3445Trp;Gly3447_Pro3452delinsAlaValProAlaGlyLeuGly;Trp3454_Gln3457delinsProGlyLeuArg;Tyr3459_Met3461delinsGlyGlyVal;Glu3463_Phe3465delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS583841" }, { "coordinates": [ { "allele": "", "end": 12517, "referenceAllele": "TG", "start": 12515 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "NM_000296.4:c.12307_12308del" ], "proteinEffect": { "hgvs": "NP_000287.4:p.Val4103TyrfsTer?", "hgvsWellDefined": "NP_000287.4:p.[Val4103_Ile4104delinsTyrSerPro;Arg4106_His4110delinsAlaLeuProArgLeu;Leu4112Trp;Gly4114_Pro4119delinsAlaValProAlaGlyLeuGly;Trp4121_Gln4124delinsProGlyLeuArg;Tyr4126_Met4128delinsGlyGlyVal;Glu4130_Phe4132delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS674777" }, { "coordinates": [ { "allele": "", "end": 12520, "referenceAllele": "TG", "start": 12518 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "NM_001009944.3:c.12310_12311del" ], "proteinEffect": { "hgvs": "NP_001009944.3:p.Val4104TyrfsTer?", "hgvsWellDefined": "NP_001009944.3:p.[Val4104_Ile4105delinsTyrSerPro;Arg4107_His4111delinsAlaLeuProArgLeu;Leu4113Trp;Gly4115_Pro4120delinsAlaValProAlaGlyLeuGly;Trp4122_Gln4125delinsProGlyLeuArg;Tyr4127_Met4129delinsGlyGlyVal;Glu4131_Phe4133delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS675359", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000262304.9:c.12310_12311del" }, "RefSeq": { "hgvs": "NM_001009944.3:c.12310_12311del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000262304.4:p.Val4104TyrfsTer?" }, "RefSeq": { "hgvs": "NP_001009944.3:p.Val4104TyrfsTer?" } } } } ], "type": "nucleotide" }