{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7480567", "communityStandardTitle": [ "NM_002225.5(IVD):c.243G>A (p.Trp81Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=650373[alleleid]", "alleleId": 650373, "preferredName": "NM_002225.5(IVD):c.243G>A (p.Trp81Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/653100", "RCV": [ "RCV000808800" ], "variationId": 653100 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/15-40700146-G-A", "id": "15-40700146-G-A", "variant": "15:40700146 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.40700146G>A?assembly=hg19", "id": "chr15:g.40700146G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.40407947G>A?assembly=hg38", "id": "chr15:g.40407947G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/540375168", "rs": 540375168 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-40700146-G-A?dataset=gnomad_r2_1", "id": "15-40700146-G-A", "variant": "15:40700146 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-40407947-G-A?dataset=gnomad_r3", "id": "15-40407947-G-A", "variant": "15:40407947 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-40407947-G-A?dataset=gnomad_r4", "id": "15-40407947-G-A", "variant": "15:40407947 G / A" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 40407947, "referenceAllele": "G", "start": 40407946 } ], "hgvs": [ "NC_000015.10:g.40407947G>A", "CM000677.2:g.40407947G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 40700146, "referenceAllele": "G", "start": 40700145 } ], "hgvs": [ "NC_000015.9:g.40700146G>A", "CM000677.1:g.40700146G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 38487438, "referenceAllele": "G", "start": 38487437 } ], "hgvs": [ "NC_000015.8:g.38487438G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "A", "end": 7461, "referenceAllele": "G", "start": 7460 } ], "hgvs": [ "NG_011986.1:g.7461G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002087" }, { "coordinates": [ { "allele": "A", "end": 7463, "referenceAllele": "G", "start": 7462 } ], "hgvs": [ "NG_011986.2:g.7463G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616162" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 186, "referenceAllele": "G", "start": 185 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "ENST00000479013.7:c.153G>A" ], "proteinEffect": { "hgvs": "ENSP00000417990.3:p.Trp51Ter", "hgvsWellDefined": "ENSP00000417990.3:p.Trp51_His393delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS757285" }, { "coordinates": [ { "allele": "A", "end": 276, "referenceAllele": "G", "start": 275 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "ENST00000487418.8:c.243G>A" ], "proteinEffect": { "hgvs": "ENSP00000418397.3:p.Trp81Ter", "hgvsWellDefined": "ENSP00000418397.3:p.Trp81_His423delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS757563", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000487418.8:c.243G>A" }, "RefSeq": { "hgvs": "NM_002225.5:c.243G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000418397.3:p.Trp81Ter" }, "RefSeq": { "hgvs": "NP_002216.3:p.Trp81Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 363, "referenceAllele": "G", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "ENST00000610693.5:c.330G>A" ], "proteinEffect": { "hgvs": "ENSP00000479359.2:p.Trp110Ter", "hgvsWellDefined": "ENSP00000479359.2:p.Trp110Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS761794" }, { "coordinates": [ { "allele": "A", "end": 496, "referenceAllele": "G", "start": 495 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "ENST00000650656.1:c.162G>A" ], "proteinEffect": { "hgvs": "ENSP00000498731.1:p.Trp54Ter", "hgvsWellDefined": "ENSP00000498731.1:p.Trp54_His396delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS771236" }, { "coordinates": [ { "allele": "A", "end": 586, "referenceAllele": "G", "start": 585 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "ENST00000651168.1:c.252G>A" ], "proteinEffect": { "hgvs": "ENSP00000499074.1:p.Trp84Ter", "hgvsWellDefined": "ENSP00000499074.1:p.Trp84_His426delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS771505" }, { "coordinates": [ { "allele": "A", "end": 2, "referenceAllele": "G", "start": 1 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "ENST00000473112.6:c.2G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS314938" }, { "coordinates": [ { "allele": "A", "end": 186, "referenceAllele": "G", "start": 185 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "ENST00000479013.6:c.162G>A" ], "proteinEffect": { "hgvs": "ENSP00000417990.2:p.Trp54Ter", "hgvsWellDefined": "ENSP00000417990.2:p.Trp54_His396delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS319489" }, { "coordinates": [ { "allele": "A", "end": 276, "referenceAllele": "G", "start": 275 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "ENST00000487418.6:c.252G>A" ], "proteinEffect": { "hgvs": "ENSP00000418397.2:p.Trp84Ter", "hgvsWellDefined": "ENSP00000418397.2:p.Trp84_His426delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS325989" }, { "coordinates": [ { "allele": "A", "end": 376, "referenceAllele": "G", "start": 375 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "ENST00000558610.5:c.195G>A" ], "proteinEffect": { "hgvs": "ENSP00000453821.1:p.Trp65Ter", "hgvsWellDefined": "ENSP00000453821.1:p.Trp65Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS373936" }, { "coordinates": [ { "allele": "A", "end": 363, "referenceAllele": "G", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "ENST00000610693.4:c.339G>A" ], "proteinEffect": { "hgvs": "ENSP00000479359.1:p.Trp113Ter", "hgvsWellDefined": "ENSP00000479359.1:p.Trp113Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS400533" }, { "coordinates": [ { "allele": "A", "end": 496, "referenceAllele": "G", "start": 495 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "NM_001159508.1:c.162G>A" ], "proteinEffect": { "hgvs": "NP_001152980.1:p.Trp54Ter", "hgvsWellDefined": "NP_001152980.1:p.Trp54_His396delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014035" }, { "coordinates": [ { "allele": "A", "end": 586, "referenceAllele": "G", "start": 585 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "NM_002225.3:c.252G>A" ], "proteinEffect": { "hgvs": "NP_002216.2:p.Trp84Ter", "hgvsWellDefined": "NP_002216.2:p.Trp84_His426delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027545" }, { "coordinates": [ { "allele": "A", "end": 252, "referenceAllele": "G", "start": 251 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "XM_005254350.2:c.252G>A" ], "proteinEffect": { "hgvs": "XP_005254407.1:p.Trp84Ter", "hgvsWellDefined": "XP_005254407.1:p.Trp84_Cys487delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlnThrPheSerAlaGlnHisProProGlyArgGluGlyGluThrArgGlyGlnThrSerLeuGluGlnValSerThrAlaArgGluLeuArgCysLysIleLeuLeuProGluLeuThrProArgValLeuLeuProGlnLeuAlaSerTrpIleSerAspGlnLysLeuProPheLeuLysIleLeuLeuCysSerProThrSerLeuGlyGlnSerSerLeuAlaGlyPheThrLysLeuArgTrpProTyrProLeuLeuGlnProHisLeuLeuProHisProTyrThrThrAlaLeuHisLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060600" }, { "coordinates": [ { "allele": "A", "end": 252, "referenceAllele": "G", "start": 251 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "XM_005254356.2:c.252G>A" ], "proteinEffect": { "hgvs": "XP_005254413.1:p.Trp84Ter", "hgvsWellDefined": "XP_005254413.1:p.Trp84_Thr279delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProGlySerCysLysArgSerTrpThrThrProPheProThrCysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060601" }, { "coordinates": [ { "allele": "A", "end": 408, "referenceAllele": "G", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "XM_006720491.2:c.195G>A" ], "proteinEffect": { "hgvs": "XP_006720554.1:p.Trp65Ter", "hgvsWellDefined": "XP_006720554.1:p.Trp65_Cys468delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlnThrPheSerAlaGlnHisProProGlyArgGluGlyGluThrArgGlyGlnThrSerLeuGluGlnValSerThrAlaArgGluLeuArgCysLysIleLeuLeuProGluLeuThrProArgValLeuLeuProGlnLeuAlaSerTrpIleSerAspGlnLysLeuProPheLeuLysIleLeuLeuCysSerProThrSerLeuGlyGlnSerSerLeuAlaGlyPheThrLysLeuArgTrpProTyrProLeuLeuGlnProHisLeuLeuProHisProTyrThrThrAlaLeuHisLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073684" }, { "coordinates": [ { "allele": "A", "end": 252, "referenceAllele": "G", "start": 251 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "XM_006720492.2:c.252G>A" ], "proteinEffect": { "hgvs": "XP_006720555.1:p.Trp84Ter", "hgvsWellDefined": "XP_006720555.1:p.Trp84_Ala447delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyHisAlaProGlnProPheLeuTyrThrGluProValAsnTyrGlnAlaProArgLysPhePheSerGlySerGlnHisLeuAlaAspLeuPheArgProThrProThrTrpGluGlyGlyArgAspProArgSerAspValProGlyAlaGlyGluHisCysGluGlyThrGluMetGlnAspProProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073685" }, { "coordinates": [ { "allele": "A", "end": 252, "referenceAllele": "G", "start": 251 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "XM_006720493.2:c.252G>A" ], "proteinEffect": { "hgvs": "XP_006720556.1:p.Trp84Ter", "hgvsWellDefined": "XP_006720556.1:p.Trp84_Ala418delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheAspLeuPheArgProThrProThrTrpGluGlyGlyArgAspProArgSerAspValProGlyAlaGlyGluHisCysGluGlyThrGluMetGlnAspProProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073686" }, { "coordinates": [ { "allele": "A", "end": 252, "referenceAllele": "G", "start": 251 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "XM_006720494.2:c.252G>A" ], "proteinEffect": { "hgvs": "XP_006720557.1:p.Trp84Ter", "hgvsWellDefined": "XP_006720557.1:p.Trp84_Ser389delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheValSerArgGlyIleSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073687" }, { "coordinates": [ { "allele": "A", "end": 252, "referenceAllele": "G", "start": 251 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "XM_006720495.2:c.252G>A" ], "proteinEffect": { "hgvs": "XP_006720558.1:p.Trp84Ter", "hgvsWellDefined": "XP_006720558.1:p.Trp84_Arg347delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnGlyArgProPheProProAsnThrHisLeuGlyGlyArgAlaArgProGluValArgArgProTrpSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073688" }, { "coordinates": [ { "allele": "A", "end": 252, "referenceAllele": "G", "start": 251 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "XM_011521523.1:c.252G>A" ], "proteinEffect": { "hgvs": "XP_011519825.1:p.Trp84Ter", "hgvsWellDefined": "XP_011519825.1:p.Trp84_Ser434delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyHisAlaProGlnProPheLeuTyrThrGluProValAsnTyrGlnAlaProArgLysPhePheSerGlySerGlnHisLeuGlnProAspAlaProValLeuProTrpLysThrArgGluSerLysGlyTrpIleAspLysTrpGluPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088683" }, { "coordinates": [ { "allele": "A", "end": 252, "referenceAllele": "G", "start": 251 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "XM_011521524.1:c.252G>A" ], "proteinEffect": { "hgvs": "XP_011519826.1:p.Trp84Ter", "hgvsWellDefined": "XP_011519826.1:p.Trp84_Leu279delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProValProLeuIleLysValArgArgLeuTrpThrAlaLeuSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088684" }, { "coordinates": [ { "allele": "A", "end": 252, "referenceAllele": "G", "start": 251 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "XR_243097.3:n.252G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS116437" }, { "coordinates": [ { "allele": "A", "end": 252, "referenceAllele": "G", "start": 251 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "XR_243098.2:n.252G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS116438" }, { "coordinates": [ { "allele": "A", "end": 353, "referenceAllele": "G", "start": 352 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "XR_429453.2:n.353G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS118375" }, { "@id": "http://reg.genome.network/allele/PA2825932184", "coordinates": [ { "allele": "A", "end": 186, "referenceAllele": "G", "start": 185 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "NM_001159508.2:c.153G>A" ], "proteinEffect": { "hgvs": "NP_001152980.2:p.Trp51Ter", "hgvsWellDefined": "NP_001152980.2:p.Trp51_His393delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511627" }, { "@id": "http://reg.genome.network/allele/PA2827879657", "coordinates": [ { "allele": "A", "end": 655, "referenceAllele": "G", "start": 654 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "NM_001354597.2:c.195G>A" ], "proteinEffect": { "hgvs": "NP_001341526.1:p.Trp65Ter", "hgvsWellDefined": "NP_001341526.1:p.Trp65_His407delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522542" }, { "@id": "http://reg.genome.network/allele/PA2827880026", "coordinates": [ { "allele": "A", "end": 276, "referenceAllele": "G", "start": 275 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "NM_001354598.2:c.243G>A" ], "proteinEffect": { "hgvs": "NP_001341527.2:p.Trp81Ter", "hgvsWellDefined": "NP_001341527.2:p.Trp81_Ala444delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyHisAlaProGlnProPheLeuTyrThrGluProValAsnTyrGlnAlaProArgLysPhePheSerGlySerGlnHisLeuAlaAspLeuPheArgProThrProThrTrpGluGlyGlyArgAspProArgSerAspValProGlyAlaGlyGluHisCysGluGlyThrGluMetGlnAspProProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522543" }, { "@id": "http://reg.genome.network/allele/PA2827880383", "coordinates": [ { "allele": "A", "end": 363, "referenceAllele": "G", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "NM_001354599.2:c.330G>A" ], "proteinEffect": { "hgvs": "NP_001341528.2:p.Trp110Ter", "hgvsWellDefined": "NP_001341528.2:p.Trp110_His452delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522544" }, { "@id": "http://reg.genome.network/allele/PA2827880741", "coordinates": [ { "allele": "A", "end": 363, "referenceAllele": "G", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "NM_001354600.2:c.330G>A" ], "proteinEffect": { "hgvs": "NP_001341529.2:p.Trp110Ter", "hgvsWellDefined": "NP_001341529.2:p.Trp110_Ala473delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyHisAlaProGlnProPheLeuTyrThrGluProValAsnTyrGlnAlaProArgLysPhePheSerGlySerGlnHisLeuAlaAspLeuPheArgProThrProThrTrpGluGlyGlyArgAspProArgSerAspValProGlyAlaGlyGluHisCysGluGlyThrGluMetGlnAspProProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522545" }, { "@id": "http://reg.genome.network/allele/PA2827880979", "coordinates": [ { "allele": "A", "end": 276, "referenceAllele": "G", "start": 275 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "NM_001354601.2:c.243G>A" ], "proteinEffect": { "hgvs": "NP_001341530.2:p.Trp81Ter", "hgvsWellDefined": "NP_001341530.2:p.Trp81_Cys484delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlnThrPheSerAlaGlnHisProProGlyArgGluGlyGluThrArgGlyGlnThrSerLeuGluGlnValSerThrAlaArgGluLeuArgCysLysIleLeuLeuProGluLeuThrProArgValLeuLeuProGlnLeuAlaSerTrpIleSerAspGlnLysLeuProPheLeuLysIleLeuLeuCysSerProThrSerLeuGlyGlnSerSerLeuAlaGlyPheThrLysLeuArgTrpProTyrProLeuLeuGlnProHisLeuLeuProHisProTyrThrThrAlaLeuHisLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522546" }, { "@id": "http://reg.genome.network/allele/PA915986914", "coordinates": [ { "allele": "A", "end": 276, "referenceAllele": "G", "start": 275 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "NM_002225.4:c.243G>A" ], "proteinEffect": { "hgvs": "NP_002216.3:p.Trp81Ter", "hgvsWellDefined": "NP_002216.3:p.Trp81_His423delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS524972" }, { "coordinates": [ { "allele": "A", "end": 653, "referenceAllele": "G", "start": 652 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "NR_148925.1:n.653G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531374" }, { "coordinates": [ { "allele": "A", "end": 261, "referenceAllele": "G", "start": 260 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "XM_006720495.3:c.252G>A" ], "proteinEffect": { "hgvs": "XP_006720558.1:p.Trp84Ter", "hgvsWellDefined": "XP_006720558.1:p.Trp84_Arg347delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnGlyArgProPheProProAsnThrHisLeuGlyGlyArgAlaArgProGluValArgArgProTrpSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540110" }, { "coordinates": [ { "allele": "A", "end": 371, "referenceAllele": "G", "start": 370 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "XM_017022149.1:c.339G>A" ], "proteinEffect": { "hgvs": "XP_016877638.1:p.Trp113Ter", "hgvsWellDefined": "XP_016877638.1:p.Trp113_Cys516delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlnThrPheSerAlaGlnHisProProGlyArgGluGlyGluThrArgGlyGlnThrSerLeuGluGlnValSerThrAlaArgGluLeuArgCysLysIleLeuLeuProGluLeuThrProArgValLeuLeuProGlnLeuAlaSerTrpIleSerAspGlnLysLeuProPheLeuLysIleLeuLeuCysSerProThrSerLeuGlyGlnSerSerLeuAlaGlyPheThrLysLeuArgTrpProTyrProLeuLeuGlnProHisLeuLeuProHisProTyrThrThrAlaLeuHisLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573169" }, { "coordinates": [ { "allele": "A", "end": 370, "referenceAllele": "G", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "XM_017022150.1:c.339G>A" ], "proteinEffect": { "hgvs": "XP_016877639.1:p.Trp113Ter", "hgvsWellDefined": "XP_016877639.1:p.Trp113_Asp478delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyHisAlaProGlnProPheLeuTyrThrGluProValAsnTyrGlnAlaProArgLysPhePheSerGlySerGlnHisLeuGlnProAspAlaProValLeuProTrpLysThrArgGluSerGlyGlnTrpIleSerGlyGlySerThrGluGlyCysProCysTrpGlnLysLysGluGlyArgLysGlnGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573170" }, { "coordinates": [ { "allele": "A", "end": 369, "referenceAllele": "G", "start": 368 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "XM_017022153.1:c.339G>A" ], "proteinEffect": { "hgvs": "XP_016877642.1:p.Trp113Ter", "hgvsWellDefined": "XP_016877642.1:p.Trp113_Ala447delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheAspLeuPheArgProThrProThrTrpGluGlyGlyArgAspProArgSerAspValProGlyAlaGlyGluHisCysGluGlyThrGluMetGlnAspProProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573171" }, { "coordinates": [ { "allele": "A", "end": 509, "referenceAllele": "G", "start": 508 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "XM_017022154.2:c.282G>A" ], "proteinEffect": { "hgvs": "XP_016877643.1:p.Trp94Ter", "hgvsWellDefined": "XP_016877643.1:p.Trp94_His436delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573172" }, { "coordinates": [ { "allele": "A", "end": 368, "referenceAllele": "G", "start": 367 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "XM_017022155.2:c.339G>A" ], "proteinEffect": { "hgvs": "XP_016877644.1:p.Trp113Ter", "hgvsWellDefined": "XP_016877644.1:p.Trp113_Ser418delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheValSerArgGlyIleSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573173" }, { "coordinates": [ { "allele": "A", "end": 370, "referenceAllele": "G", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "XM_017022157.1:c.339G>A" ], "proteinEffect": { "hgvs": "XP_016877646.1:p.Trp113Ter", "hgvsWellDefined": "XP_016877646.1:p.Trp113_Arg376delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnGlyArgProPheProProAsnThrHisLeuGlyGlyArgAlaArgProGluValArgArgProTrpSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573174" }, { "coordinates": [ { "allele": "A", "end": 370, "referenceAllele": "G", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "XM_017022158.2:c.339G>A" ], "proteinEffect": { "hgvs": "XP_016877647.1:p.Trp113Ter", "hgvsWellDefined": "XP_016877647.1:p.Trp113_Leu308delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProValProLeuIleLysValArgArgLeuTrpThrAlaLeuSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573175" }, { "coordinates": [ { "allele": "A", "end": 602, "referenceAllele": "G", "start": 601 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "XR_001751263.1:n.602G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS598192" }, { "coordinates": [ { "allele": "A", "end": 643, "referenceAllele": "G", "start": 642 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "XR_001751264.1:n.643G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS598193" }, { "@id": "http://reg.genome.network/allele/PA2825932184", "coordinates": [ { "allele": "A", "end": 186, "referenceAllele": "G", "start": 185 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "NM_001159508.3:c.153G>A" ], "proteinEffect": { "hgvs": "NP_001152980.2:p.Trp51Ter", "hgvsWellDefined": "NP_001152980.2:p.Trp51_His393delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678075" }, { "@id": "http://reg.genome.network/allele/PA2827879657", "coordinates": [ { "allele": "A", "end": 655, "referenceAllele": "G", "start": 654 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "NM_001354597.3:c.195G>A" ], "proteinEffect": { "hgvs": "NP_001341526.1:p.Trp65Ter", "hgvsWellDefined": "NP_001341526.1:p.Trp65_His407delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690243" }, { "@id": "http://reg.genome.network/allele/PA2827880026", "coordinates": [ { "allele": "A", "end": 276, "referenceAllele": "G", "start": 275 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "NM_001354598.3:c.243G>A" ], "proteinEffect": { "hgvs": "NP_001341527.2:p.Trp81Ter", "hgvsWellDefined": "NP_001341527.2:p.Trp81_Ala444delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyHisAlaProGlnProPheLeuTyrThrGluProValAsnTyrGlnAlaProArgLysPhePheSerGlySerGlnHisLeuAlaAspLeuPheArgProThrProThrTrpGluGlyGlyArgAspProArgSerAspValProGlyAlaGlyGluHisCysGluGlyThrGluMetGlnAspProProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690244" }, { "@id": "http://reg.genome.network/allele/PA2827880383", "coordinates": [ { "allele": "A", "end": 363, "referenceAllele": "G", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "NM_001354599.3:c.330G>A" ], "proteinEffect": { "hgvs": "NP_001341528.2:p.Trp110Ter", "hgvsWellDefined": "NP_001341528.2:p.Trp110_His452delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690245" }, { "@id": "http://reg.genome.network/allele/PA2827880741", "coordinates": [ { "allele": "A", "end": 363, "referenceAllele": "G", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "NM_001354600.3:c.330G>A" ], "proteinEffect": { "hgvs": "NP_001341529.2:p.Trp110Ter", "hgvsWellDefined": "NP_001341529.2:p.Trp110_Ala473delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyHisAlaProGlnProPheLeuTyrThrGluProValAsnTyrGlnAlaProArgLysPhePheSerGlySerGlnHisLeuAlaAspLeuPheArgProThrProThrTrpGluGlyGlyArgAspProArgSerAspValProGlyAlaGlyGluHisCysGluGlyThrGluMetGlnAspProProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690246" }, { "@id": "http://reg.genome.network/allele/PA2827880979", "coordinates": [ { "allele": "A", "end": 276, "referenceAllele": "G", "start": 275 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "NM_001354601.3:c.243G>A" ], "proteinEffect": { "hgvs": "NP_001341530.2:p.Trp81Ter", "hgvsWellDefined": "NP_001341530.2:p.Trp81_Cys484delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlnThrPheSerAlaGlnHisProProGlyArgGluGlyGluThrArgGlyGlnThrSerLeuGluGlnValSerThrAlaArgGluLeuArgCysLysIleLeuLeuProGluLeuThrProArgValLeuLeuProGlnLeuAlaSerTrpIleSerAspGlnLysLeuProPheLeuLysIleLeuLeuCysSerProThrSerLeuGlyGlnSerSerLeuAlaGlyPheThrLysLeuArgTrpProTyrProLeuLeuGlnProHisLeuLeuProHisProTyrThrThrAlaLeuHisLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690247" }, { "@id": "http://reg.genome.network/allele/PA915986914", "coordinates": [ { "allele": "A", "end": 276, "referenceAllele": "G", "start": 275 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "NM_002225.5:c.243G>A" ], "proteinEffect": { "hgvs": "NP_002216.3:p.Trp81Ter", "hgvsWellDefined": "NP_002216.3:p.Trp81_His423delinsLysGlnLeuGlyAsnLeuGlyValLeuGlyIleThrAlaProValGlnTyrGlyGlySerGlyLeuGlyTyrLeuGluHisValLeuValMetGluGluIleSerArgAlaSerGlyAlaValGlyLeuSerTyrGlyAlaHisSerAsnLeuCysIleAsnGlnLeuValArgAsnGlyAsnGluAlaGlnLysGluLysTyrLeuProLysLeuIleSerGlyGluTyrIleGlyAlaLeuAlaMetSerGluProAsnAlaGlySerAspValValSerMetLysLeuLysAlaGluLysLysGlyAsnHisTyrIleLeuAsnGlyAsnLysPheTrpIleThrAsnGlyProAspAlaAspValLeuIleValTyrAlaLysThrAspLeuAlaAlaValProAlaSerArgGlyIleThrAlaPheIleValGluLysGlyMetProGlyPheSerThrSerLysLysLeuAspLysLeuGlyMetArgGlySerAsnThrCysGluLeuIlePheGluAspCysLysIleProAlaAlaAsnIleLeuGlyHisGluAsnLysGlyValTyrValLeuMetSerGlyLeuAspLeuGluArgLeuValLeuAlaGlyGlyProLeuGlyLeuMetGlnAlaValLeuAspHisThrIleProTyrLeuHisValArgGluAlaPheGlyGlnLysIleGlyHisPheGlnLeuMetGlnGlyLysMetAlaAspMetTyrThrArgLeuMetAlaCysArgGlnTyrValTyrAsnValAlaLysAlaCysAspGluGlyHisCysThrAlaLysAspCysAlaGlyValIleLeuTyrSerAlaGluCysAlaThrGlnValAlaLeuAspGlyIleGlnCysPheGlyGlyAsnGlyTyrIleAsnAspPheProMetGlyArgPheLeuArgAspAlaLysLeuTyrGluIleGlyAlaGlyThrSerGluValArgArgLeuValIleGlyArgAlaPheAsnAlaAspPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695484", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000487418.8:c.243G>A" }, "RefSeq": { "hgvs": "NM_002225.5:c.243G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000418397.3:p.Trp81Ter" }, "RefSeq": { "hgvs": "NP_002216.3:p.Trp81Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 655, "referenceAllele": "G", "start": 654 } ], "gene": "http://reg.genome.network/gene/GN006186", "geneNCBI_id": 3712, "geneSymbol": "IVD", "hgvs": [ "NR_148925.2:n.655G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704888" } ], "type": "nucleotide" }