{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10590097", "communityStandardTitle": [ "NM_001009944.3(PKD1):c.11900_11925delinsAAGCTAGTGA (p.Val3967GlufsTer12)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=262268[alleleid]", "alleleId": 262268, "preferredName": "NM_001009944.3(PKD1):c.11900_11925delinsAAGCTAGTGA (p.Val3967fs)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/267265", "RCV": [ "RCV000258012" ], "variationId": 267265 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2140963_2140988delinsTCACTAGCTT?assembly=hg19", "id": "chr16:g.2140963_2140988delinsTCACTAGCTT" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2090962_2090987delinsTCACTAGCTT?assembly=hg38", "id": "chr16:g.2090962_2090987delinsTCACTAGCTT" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/886040959", "rs": 886040959 } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "TCACTAGCTT", "end": 2090987, "referenceAllele": "AGTGAAGCGGCGCGGGCGGCCGCGCA", "start": 2090961 } ], "hgvs": [ "NC_000016.10:g.2090962_2090987delinsTCACTAGCTT", "CM000678.2:g.2090962_2090987delinsTCACTAGCTT" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "TCACTAGCTT", "end": 2140988, "referenceAllele": "AGTGAAGCGGCGCGGGCGGCCGCGCA", "start": 2140962 } ], "hgvs": [ "NC_000016.9:g.2140963_2140988delinsTCACTAGCTT", "CM000678.1:g.2140963_2140988delinsTCACTAGCTT" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "TCACTAGCTT", "end": 2080989, "referenceAllele": "AGTGAAGCGGCGCGGGCGGCCGCGCA", "start": 2080963 } ], "hgvs": [ "NC_000016.8:g.2080964_2080989delinsTCACTAGCTT" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "TCACTAGCTT", "end": 46682, "referenceAllele": "AGTGAAGCGGCGCGGGCGGCCGCGCA", "start": 46656 } ], "hgvs": [ "NG_005895.1:g.46657_46682delinsTCACTAGCTT", "LRG_487:g.46657_46682delinsTCACTAGCTT" ], "referenceSequence": "http://reg.genome.network/refseq/RS000437" }, { "coordinates": [ { "allele": "AAGCTAGTGA", "end": 52259, "referenceAllele": "TGCGCGGCCGCCCGCGCCGCTTCACT", "start": 52233 } ], "hgvs": [ "NG_008617.1:g.52234_52259delinsAAGCTAGTGA" ], "referenceSequence": "http://reg.genome.network/refseq/RS001129" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "AAGCTAGTGA", "end": 12134, "referenceAllele": "TGCGCGGCCGCCCGCGCCGCTTCACT", "start": 12108 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "ENST00000262304.9:c.11900_11925delinsAAGCTAGTGA" ], "proteinEffect": { "hgvs": "ENSP00000262304.4:p.Val3967GlufsTer12", "hgvsWellDefined": "ENSP00000262304.4:p.[Val3967_Thr3975delinsGluAla;Phe3977_Val3980delinsGlu;Gln3982_Leu3983del;Ser3985_Ala3987delinsThrArgTrp;Gly3989_Ala3992del;Leu3995_Leu4006del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS742318", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000262304.9:c.11900_11925delinsAAGCTAGTGA" }, "RefSeq": { "hgvs": "NM_001009944.3:c.11900_11925delinsAAGCTAGTGA" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000262304.4:p.Val3967GlufsTer12" }, "RefSeq": { "hgvs": "NP_001009944.3:p.Val3967GlufsTer12" } } } }, { "coordinates": [ { "allele": "AAGCTAGTGA", "end": 12134, "referenceAllele": "TGCGCGGCCGCCCGCGCCGCTTCACT", "start": 12108 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "ENST00000262304.8:c.11900_11925delinsAAGCTAGTGA" ], "proteinEffect": { "hgvs": "ENSP00000262304.4:p.Val3967GlufsTer12", "hgvsWellDefined": "ENSP00000262304.4:p.[Val3967_Thr3975delinsGluAla;Phe3977_Val3980delinsGlu;Gln3982_Leu3983del;Ser3985_Ala3987delinsThrArgTrp;Gly3989_Ala3992del;Leu3995_Leu4006del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS250982" }, { "coordinates": [ { "allele": "AAGCTAGTGA", "end": 12131, "referenceAllele": "TGCGCGGCCGCCCGCGCCGCTTCACT", "start": 12105 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "ENST00000423118.5:c.11897_11922delinsAAGCTAGTGA" ], "proteinEffect": { "hgvs": "ENSP00000399501.1:p.Val3966GlufsTer12", "hgvsWellDefined": "ENSP00000399501.1:p.[Val3966_Thr3974delinsGluAla;Phe3976_Val3979delinsGlu;Gln3981_Leu3982del;Ser3984_Ala3986delinsThrArgTrp;Gly3988_Ala3991del;Leu3994_Leu4005del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS287603" }, { "coordinates": [ { "allele": "AAGCTAGTGA", "end": 586, "referenceAllele": "TGCGCGGCCGCCCGCGCCGCTTCACT", "start": 560 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "ENST00000561668.5:c.561_586delinsAAGCTAGTGA" ], "referenceSequence": "http://reg.genome.network/refseq/RS376264" }, { "coordinates": [ { "allele": "AAGCTAGTGA", "end": 446, "referenceAllele": "TGCGCGGCCGCCCGCGCCGCTTCACT", "start": 420 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "ENST00000564313.1:n.421_446delinsAAGCTAGTGA" ], "referenceSequence": "http://reg.genome.network/refseq/RS378005" }, { "coordinates": [ { "allele": "AAGCTAGTGA", "end": 12131, "referenceAllele": "TGCGCGGCCGCCCGCGCCGCTTCACT", "start": 12105 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "NM_000296.3:c.11897_11922delinsAAGCTAGTGA" ], "proteinEffect": { "hgvs": 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9007 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_005255370.2:c.8855_8880delinsAAGCTAGTGA" ], "proteinEffect": { "hgvs": "XP_005255427.1:p.Val2952GlufsTer12", "hgvsWellDefined": "XP_005255427.1:p.[Val2952_Thr2960delinsGluAla;Phe2962_Val2965delinsGlu;Gln2967_Leu2968del;Ser2970_Ala2972delinsThrArgTrp;Gly2974_Ala2977del;Leu2980_Leu2991del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS060926" }, { "coordinates": [ { "allele": "AAGCTAGTGA", "end": 12018, "referenceAllele": "TGCGCGGCCGCCCGCGCCGCTTCACT", "start": 11992 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522525.1:c.11978_12003delinsAAGCTAGTGA" ], "proteinEffect": { "hgvs": "XP_011520827.1:p.Val3993GlufsTer12", "hgvsWellDefined": "XP_011520827.1:p.[Val3993_Thr4001delinsGluAla;Phe4003_Val4006delinsGlu;Gln4008_Leu4009del;Ser4011_Ala4013delinsThrArgTrp;Gly4015_Ala4018del;Leu4021_Leu4032del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS089676" }, { "coordinates": [ { "allele": "AAGCTAGTGA", "end": 12015, "referenceAllele": "TGCGCGGCCGCCCGCGCCGCTTCACT", "start": 11989 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522526.1:c.11975_12000delinsAAGCTAGTGA" ], "proteinEffect": { "hgvs": "XP_011520828.1:p.Val3992GlufsTer12", "hgvsWellDefined": "XP_011520828.1:p.[Val3992_Thr4000delinsGluAla;Phe4002_Val4005delinsGlu;Gln4007_Leu4008del;Ser4010_Ala4012delinsThrArgTrp;Gly4014_Ala4017del;Leu4020_Leu4031del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS089677" }, { "coordinates": [ { "allele": "AAGCTAGTGA", "end": 12000, "referenceAllele": "TGCGCGGCCGCCCGCGCCGCTTCACT", "start": 11974 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522527.1:c.11960_11985delinsAAGCTAGTGA" ], "proteinEffect": { "hgvs": "XP_011520829.1:p.Val3987GlufsTer12", "hgvsWellDefined": "XP_011520829.1:p.[Val3987_Thr3995delinsGluAla;Phe3997_Val4000delinsGlu;Gln4002_Leu4003del;Ser4005_Ala4007delinsThrArgTrp;Gly4009_Ala4012del;Leu4015_Leu4026del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS089678" }, { "coordinates": [ { "allele": "AAGCTAGTGA", "end": 11994, "referenceAllele": "TGCGCGGCCGCCCGCGCCGCTTCACT", "start": 11968 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522528.1:c.11954_11979delinsAAGCTAGTGA" ], "proteinEffect": { "hgvs": "XP_011520830.1:p.Val3985GlufsTer12", "hgvsWellDefined": "XP_011520830.1:p.[Val3985_Thr3993delinsGluAla;Phe3995_Val3998delinsGlu;Gln4000_Leu4001del;Ser4003_Ala4005delinsThrArgTrp;Gly4007_Ala4010del;Leu4013_Leu4024del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS089679" }, { "coordinates": [ { "allele": "AAGCTAGTGA", "end": 11991, "referenceAllele": "TGCGCGGCCGCCCGCGCCGCTTCACT", "start": 11965 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522529.1:c.11951_11976delinsAAGCTAGTGA" ], "proteinEffect": { "hgvs": "XP_011520831.1:p.Val3984GlufsTer12", "hgvsWellDefined": "XP_011520831.1:p.[Val3984_Thr3992delinsGluAla;Phe3994_Val3997delinsGlu;Gln3999_Leu4000del;Ser4002_Ala4004delinsThrArgTrp;Gly4006_Ala4009del;Leu4012_Leu4023del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS089680" }, { "coordinates": [ { "allele": "AAGCTAGTGA", "end": 12156, "referenceAllele": "TGCGCGGCCGCCCGCGCCGCTTCACT", "start": 12130 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522530.1:c.11924_11949delinsAAGCTAGTGA" ], "proteinEffect": { "hgvs": "XP_011520832.1:p.Val3975GlufsTer12", "hgvsWellDefined": "XP_011520832.1:p.[Val3975_Thr3983delinsGluAla;Phe3985_Val3988delinsGlu;Gln3990_Leu3991del;Ser3993_Ala3995delinsThrArgTrp;Gly3997_Ala4000del;Leu4003_Leu4014del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS089681" }, { "coordinates": [ { "allele": "AAGCTAGTGA", "end": 11946, "referenceAllele": "TGCGCGGCCGCCCGCGCCGCTTCACT", "start": 11920 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522531.1:c.11906_11931delinsAAGCTAGTGA" ], "proteinEffect": { "hgvs": "XP_011520833.1:p.Val3969GlufsTer12", "hgvsWellDefined": "XP_011520833.1:p.[Val3969_Thr3977delinsGluAla;Phe3979_Val3982delinsGlu;Gln3984_Leu3985del;Ser3987_Ala3989delinsThrArgTrp;Gly3991_Ala3994del;Leu3997_Leu4008del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS089682" }, { "coordinates": [ { "allele": "AAGCTAGTGA", "end": 12084, "referenceAllele": "TGCGCGGCCGCCCGCGCCGCTTCACT", "start": 12058 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522532.1:c.11852_11877delinsAAGCTAGTGA" ], "proteinEffect": { "hgvs": "XP_011520834.1:p.Val3951GlufsTer12", "hgvsWellDefined": "XP_011520834.1:p.[Val3951_Thr3959delinsGluAla;Phe3961_Val3964delinsGlu;Gln3966_Leu3967del;Ser3969_Ala3971delinsThrArgTrp;Gly3973_Ala3976del;Leu3979_Leu3990del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS089683" }, { "coordinates": [ { "allele": "AAGCTAGTGA", "end": 11811, "referenceAllele": "TGCGCGGCCGCCCGCGCCGCTTCACT", "start": 11785 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522533.1:c.11771_11796delinsAAGCTAGTGA" ], "proteinEffect": { "hgvs": "XP_011520835.1:p.Val3924GlufsTer12", "hgvsWellDefined": "XP_011520835.1:p.[Val3924_Thr3932delinsGluAla;Phe3934_Val3937delinsGlu;Gln3939_Leu3940del;Ser3942_Ala3944delinsThrArgTrp;Gly3946_Ala3949del;Leu3952_Leu3963del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS089684" }, { "coordinates": [ { "allele": "AAGCTAGTGA", "end": 11760, "referenceAllele": "TGCGCGGCCGCCCGCGCCGCTTCACT", "start": 11734 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522534.1:c.11714_11739delinsAAGCTAGTGA" ], "proteinEffect": { "hgvs": "XP_011520836.1:p.Val3905GlufsTer12", "hgvsWellDefined": "XP_011520836.1:p.[Val3905_Thr3913delinsGluAla;Phe3915_Val3918delinsGlu;Gln3920_Leu3921del;Ser3923_Ala3925delinsThrArgTrp;Gly3927_Ala3930del;Leu3933_Leu3944del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS089685" }, { "coordinates": [ { "allele": "AAGCTAGTGA", "end": 10174, "referenceAllele": "TGCGCGGCCGCCCGCGCCGCTTCACT", "start": 10148 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522535.1:c.9800_9825delinsAAGCTAGTGA" ], "proteinEffect": { "hgvs": "XP_011520837.1:p.Val3267GlufsTer12", "hgvsWellDefined": "XP_011520837.1:p.[Val3267_Thr3275delinsGluAla;Phe3277_Val3280delinsGlu;Gln3282_Leu3283del;Ser3285_Ala3287delinsThrArgTrp;Gly3289_Ala3292del;Leu3295_Leu3306del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS089686" }, { "coordinates": [ { "allele": "AAGCTAGTGA", "end": 9091, "referenceAllele": "TGCGCGGCCGCCCGCGCCGCTTCACT", "start": 9065 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522537.1:c.8978_9003delinsAAGCTAGTGA" ], "proteinEffect": { "hgvs": "XP_011520839.1:p.Val2993GlufsTer12", "hgvsWellDefined": "XP_011520839.1:p.[Val2993_Thr3001delinsGluAla;Phe3003_Val3006delinsGlu;Gln3008_Leu3009del;Ser3011_Ala3013delinsThrArgTrp;Gly3015_Ala3018del;Leu3021_Leu3032del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS089688" }, { "coordinates": [ { "allele": "AAGCTAGTGA", "end": 11843, "referenceAllele": "TGCGCGGCCGCCCGCGCCGCTTCACT", "start": 11817 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XR_932867.1:n.11818_11843delinsAAGCTAGTGA" ], "referenceSequence": "http://reg.genome.network/refseq/RS128744" }, { "coordinates": [ { "allele": "AAGCTAGTGA", "end": 11590, "referenceAllele": "TGCGCGGCCGCCCGCGCCGCTTCACT", "start": 11564 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XR_932869.1:n.11565_11590delinsAAGCTAGTGA" ], "referenceSequence": "http://reg.genome.network/refseq/RS128746" }, { "coordinates": [ { "allele": "AAGCTAGTGA", "end": 9721, "referenceAllele": "TGCGCGGCCGCCCGCGCCGCTTCACT", "start": 9695 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_005255370.3:c.8855_8880delinsAAGCTAGTGA" ], "proteinEffect": { "hgvs": "XP_005255427.1:p.Val2952GlufsTer12", "hgvsWellDefined": "XP_005255427.1:p.[Val2952_Thr2960delinsGluAla;Phe2962_Val2965delinsGlu;Gln2967_Leu2968del;Ser2970_Ala2972delinsThrArgTrp;Gly2974_Ala2977del;Leu2980_Leu2991del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS534274" }, { "coordinates": [ { "allele": "AAGCTAGTGA", "end": 12160, "referenceAllele": "TGCGCGGCCGCCCGCGCCGCTTCACT", "start": 12134 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522528.3:c.11954_11979delinsAAGCTAGTGA" ], "proteinEffect": { "hgvs": "XP_011520830.1:p.Val3985GlufsTer12", "hgvsWellDefined": "XP_011520830.1:p.[Val3985_Thr3993delinsGluAla;Phe3995_Val3998delinsGlu;Gln4000_Leu4001del;Ser4003_Ala4005delinsThrArgTrp;Gly4007_Ala4010del;Leu4013_Leu4024del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS546642" }, { "coordinates": [ { "allele": "AAGCTAGTGA", "end": 12157, "referenceAllele": "TGCGCGGCCGCCCGCGCCGCTTCACT", "start": 12131 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522529.2:c.11951_11976delinsAAGCTAGTGA" ], "proteinEffect": { "hgvs": "XP_011520831.1:p.Val3984GlufsTer12", "hgvsWellDefined": "XP_011520831.1:p.[Val3984_Thr3992delinsGluAla;Phe3994_Val3997delinsGlu;Gln3999_Leu4000del;Ser4002_Ala4004delinsThrArgTrp;Gly4006_Ala4009del;Leu4012_Leu4023del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS546643" }, { "coordinates": [ { "allele": "AAGCTAGTGA", "end": 9092, "referenceAllele": "TGCGCGGCCGCCCGCGCCGCTTCACT", "start": 9066 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522537.2:c.8978_9003delinsAAGCTAGTGA" ], "proteinEffect": { "hgvs": "XP_011520839.1:p.Val2993GlufsTer12", "hgvsWellDefined": "XP_011520839.1:p.[Val2993_Thr3001delinsGluAla;Phe3003_Val3006delinsGlu;Gln3008_Leu3009del;Ser3011_Ala3013delinsThrArgTrp;Gly3015_Ala3018del;Leu3021_Leu3032del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS546644" }, { "coordinates": [ { "allele": "AAGCTAGTGA", "end": 12060, "referenceAllele": "TGCGCGGCCGCCCGCGCCGCTTCACT", "start": 12034 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_024450298.1:c.12020_12045delinsAAGCTAGTGA" ], "proteinEffect": { "hgvs": "XP_024306066.1:p.Val4007GlufsTer12", "hgvsWellDefined": "XP_024306066.1:p.[Val4007_Thr4015delinsGluAla;Phe4017_Val4020delinsGlu;Gln4022_Leu4023del;Ser4025_Ala4027delinsThrArgTrp;Gly4029_Ala4032del;Leu4035_Leu4046del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS583838" }, { "coordinates": [ { "allele": "AAGCTAGTGA", "end": 11988, "referenceAllele": "TGCGCGGCCGCCCGCGCCGCTTCACT", "start": 11962 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_024450299.1:c.11948_11973delinsAAGCTAGTGA" ], "proteinEffect": { "hgvs": "XP_024306067.1:p.Val3983GlufsTer12", "hgvsWellDefined": "XP_024306067.1:p.[Val3983_Thr3991delinsGluAla;Phe3993_Val3996delinsGlu;Gln3998_Leu3999del;Ser4001_Ala4003delinsThrArgTrp;Gly4005_Ala4008del;Leu4011_Leu4022del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS583839" }, { "coordinates": [ { "allele": "AAGCTAGTGA", "end": 12046, "referenceAllele": "TGCGCGGCCGCCCGCGCCGCTTCACT", "start": 12020 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_024450300.1:c.11810_11835delinsAAGCTAGTGA" ], "proteinEffect": { "hgvs": "XP_024306068.1:p.Val3937GlufsTer12", "hgvsWellDefined": "XP_024306068.1:p.[Val3937_Thr3945delinsGluAla;Phe3947_Val3950delinsGlu;Gln3952_Leu3953del;Ser3955_Ala3957delinsThrArgTrp;Gly3959_Ala3962del;Leu3965_Leu3976del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS583840" }, { "coordinates": [ { "allele": "AAGCTAGTGA", "end": 10277, "referenceAllele": "TGCGCGGCCGCCCGCGCCGCTTCACT", "start": 10251 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_024450301.1:c.9896_9921delinsAAGCTAGTGA" ], "proteinEffect": { "hgvs": "XP_024306069.1:p.Val3299GlufsTer12", "hgvsWellDefined": "XP_024306069.1:p.[Val3299_Thr3307delinsGluAla;Phe3309_Val3312delinsGlu;Gln3314_Leu3315del;Ser3317_Ala3319delinsThrArgTrp;Gly3321_Ala3324del;Leu3327_Leu3338del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS583841" }, { "coordinates": [ { "allele": "AAGCTAGTGA", "end": 12131, "referenceAllele": "TGCGCGGCCGCCCGCGCCGCTTCACT", "start": 12105 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "NM_000296.4:c.11897_11922delinsAAGCTAGTGA" ], "proteinEffect": { "hgvs": "NP_000287.4:p.Val3966GlufsTer12", "hgvsWellDefined": "NP_000287.4:p.[Val3966_Thr3974delinsGluAla;Phe3976_Val3979delinsGlu;Gln3981_Leu3982del;Ser3984_Ala3986delinsThrArgTrp;Gly3988_Ala3991del;Leu3994_Leu4005del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS674777" }, { "coordinates": [ { "allele": "AAGCTAGTGA", "end": 12134, "referenceAllele": "TGCGCGGCCGCCCGCGCCGCTTCACT", "start": 12108 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "NM_001009944.3:c.11900_11925delinsAAGCTAGTGA" ], "proteinEffect": { "hgvs": "NP_001009944.3:p.Val3967GlufsTer12", "hgvsWellDefined": "NP_001009944.3:p.[Val3967_Thr3975delinsGluAla;Phe3977_Val3980delinsGlu;Gln3982_Leu3983del;Ser3985_Ala3987delinsThrArgTrp;Gly3989_Ala3992del;Leu3995_Leu4006del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS675359", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000262304.9:c.11900_11925delinsAAGCTAGTGA" }, "RefSeq": { "hgvs": "NM_001009944.3:c.11900_11925delinsAAGCTAGTGA" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000262304.4:p.Val3967GlufsTer12" }, "RefSeq": { "hgvs": "NP_001009944.3:p.Val3967GlufsTer12" } } } } ], "type": "nucleotide" }