{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA278645357", "communityStandardTitle": [ "NM_001171.6(ABCC6):c.2304C>A (p.Tyr768Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=426945[alleleid]", "alleleId": 426945, "preferredName": "NM_001171.6(ABCC6):c.2304C>A (p.Tyr768Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/433270", "RCV": [ "RCV000499365", "RCV003558406" ], "variationId": 433270 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.16272766G>T?assembly=hg19", "id": "chr16:g.16272766G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.16178909G>T?assembly=hg38", "id": "chr16:g.16178909G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/66492417", "rs": 66492417 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-16178909-G-T?dataset=gnomad_r4", "id": "16-16178909-G-T", "variant": "16:16178909 G / T" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 16178909, "referenceAllele": "G", "start": 16178908 } ], "hgvs": [ "NC_000016.10:g.16178909G>T", "CM000678.2:g.16178909G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 16272766, "referenceAllele": "G", "start": 16272765 } ], "hgvs": [ "NC_000016.9:g.16272766G>T", "CM000678.1:g.16272766G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 16180267, "referenceAllele": "G", "start": 16180266 } ], "hgvs": [ "NC_000016.8:g.16180267G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 49563, "referenceAllele": "C", "start": 49562 } ], "hgvs": [ "NG_007558.2:g.49563C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000648" }, { "coordinates": [ { "allele": "A", "end": 49709, "referenceAllele": "C", "start": 49708 } ], "hgvs": [ "NG_007558.3:g.49709C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS733313" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2364, "referenceAllele": "C", "start": 2363 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "ENST00000622290.5:c.2304C>A" ], "proteinEffect": { "hgvs": "ENSP00000483331.2:p.Tyr768Ter", "hgvsWellDefined": "ENSP00000483331.2:p.Tyr768_Gly1296delinsArgLysAlaAlaValTyrLeuLeuAspAspProLeuAlaAlaLeuAspAlaHisValGlyGlnHisValPheAsnGlnValIleGlyProGlyGlyLeuLeuGlnGlyThrThrArgIleLeuValThrHisAlaLeuHisIleLeuProGlnAlaAspTrpIleIleValLeuAlaAsnGlyAlaIleAlaGluMetGlySerTyrGlnGluLeuLeuGlnArgLysGlyAlaLeuMetCysLeuLeuAspGlnAlaArgGlnProGlyAspArgGlyGluGlyGluThrGluProGlyThrSerThrLysAspProArgGlyThrSerAlaGlyArgArgProGluLeuArgArgGluArgSerIleLysSerValProGluLysAspArgThrThrSerGluAlaGlnThrGluValProLeuAspAspProAspArgAlaGlyTrpProAlaGlyLysAspSerIleGlnTyrGlyArgValLysAlaThrValHisLeuAlaTyrLeuArgAlaValGlyThrProLeuCysLeuTyrAlaLeuPheLeuPheLeuCysGlnGlnValAlaSerPheCysArgGlyTyrTrpLeuSerLeuTrpAlaAspAspProAlaValGlyGlyGlnGlnThrGlnAlaAlaLeuArgGlyGlyIlePheGlyLeuLeuGlyCysLeuGlnAlaIleGlyLeuPheAlaSerMetAlaAlaValLeuLeuGlyGlyAlaArgAlaSerArgLeuLeuPheGlnArgLeuLeuTrpAspValValArgSerProIleSerPhePheGluArgThrProIleGlyHisLeuLeuAsnArgPheSerLysGluThrAspThrValAspValAspIleProAspLysLeuArgSerLeuLeuMetTyrAlaPheGlyLeuLeuGluValSerLeuValValAlaValAlaThrProLeuAlaThrValAlaIleLeuProLeuPheLeuLeuTyrAlaGlyPheGlnSerLeuTyrValValSerSerCysGlnLeuArgArgLeuGluSerAlaSerTyrSerSerValCysSerHisMetAlaGluThrPheGlnGlySerThrValValArgAlaPheArgThrGlnAlaProPheValAlaGlnAsnAsnAlaArgValAspGluSerGlnArgIleSerPheProArgLeuValAlaAspArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysThrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826576" }, { "coordinates": [ { "allele": "A", "end": 2364, "referenceAllele": "C", "start": 2363 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "ENST00000205557.12:c.2304C>A" ], "proteinEffect": { "hgvs": "ENSP00000205557.7:p.Tyr768Ter", "hgvsWellDefined": "ENSP00000205557.7:p.Tyr768_Val1503delinsArgLysAlaAlaValTyrLeuLeuAspAspProLeuAlaAlaLeuAspAlaHisValGlyGlnHisValPheAsnGlnValIleGlyProGlyGlyLeuLeuGlnGlyThrThrArgIleLeuValThrHisAlaLeuHisIleLeuProGlnAlaAspTrpIleIleValLeuAlaAsnGlyAlaIleAlaGluMetGlySerTyrGlnGluLeuLeuGlnArgLysGlyAlaLeuMetCysLeuLeuAspGlnAlaArgGlnProGlyAspArgGlyGluGlyGluThrGluProGlyThrSerThrLysAspProArgGlyThrSerAlaGlyArgArgProGluLeuArgArgGluArgSerIleLysSerValProGluLysAspArgThrThrSerGluAlaGlnThrGluValProLeuAspAspProAspArgAlaGlyTrpProAlaGlyLysAspSerIleGlnTyrGlyArgValLysAlaThrValHisLeuAlaTyrLeuArgAlaValGlyThrProLeuCysLeuTyrAlaLeuPheLeuPheLeuCysGlnGlnValAlaSerPheCysArgGlyTyrTrpLeuSerLeuTrpAlaAspAspProAlaValGlyGlyGlnGlnThrGlnAlaAlaLeuArgGlyGlyIlePheGlyLeuLeuGlyCysLeuGlnAlaIleGlyLeuPheAlaSerMetAlaAlaValLeuLeuGlyGlyAlaArgAlaSerArgLeuLeuPheGlnArgLeuLeuTrpAspValValArgSerProIleSerPhePheGluArgThrProIleGlyHisLeuLeuAsnArgPheSerLysGluThrAspThrValAspValAspIleProAspLysLeuArgSerLeuLeuMetTyrAlaPheGlyLeuLeuGluValSerLeuValValAlaValAlaThrProLeuAlaThrValAlaIleLeuProLeuPheLeuLeuTyrAlaGlyPheGlnSerLeuTyrValValSerSerCysGlnLeuArgArgLeuGluSerAlaSerTyrSerSerValCysSerHisMetAlaGluThrPheGlnGlySerThrValValArgAlaPheArgThrGlnAlaProPheValAlaGlnAsnAsnAlaArgValAspGluSerGlnArgIleSerPheProArgLeuValAlaAspArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuAlaSerGlyLeuLeuArgLeuGlnGluAlaAlaGluGlyGlyIleTrpIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740175", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000205557.12:c.2304C>A" }, "RefSeq": { "hgvs": "NM_001171.6:c.2304C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000205557.7:p.Tyr768Ter" }, "RefSeq": { "hgvs": "NP_001162.5:p.Tyr768Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2334, "referenceAllele": "C", "start": 2333 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "ENST00000205557.11:c.2304C>A" ], "proteinEffect": { "hgvs": "ENSP00000205557.7:p.Tyr768Ter", "hgvsWellDefined": "ENSP00000205557.7:p.Tyr768_Val1503delinsArgLysAlaAlaValTyrLeuLeuAspAspProLeuAlaAlaLeuAspAlaHisValGlyGlnHisValPheAsnGlnValIleGlyProGlyGlyLeuLeuGlnGlyThrThrArgIleLeuValThrHisAlaLeuHisIleLeuProGlnAlaAspTrpIleIleValLeuAlaAsnGlyAlaIleAlaGluMetGlySerTyrGlnGluLeuLeuGlnArgLysGlyAlaLeuMetCysLeuLeuAspGlnAlaArgGlnProGlyAspArgGlyGluGlyGluThrGluProGlyThrSerThrLysAspProArgGlyThrSerAlaGlyArgArgProGluLeuArgArgGluArgSerIleLysSerValProGluLysAspArgThrThrSerGluAlaGlnThrGluValProLeuAspAspProAspArgAlaGlyTrpProAlaGlyLysAspSerIleGlnTyrGlyArgValLysAlaThrValHisLeuAlaTyrLeuArgAlaValGlyThrProLeuCysLeuTyrAlaLeuPheLeuPheLeuCysGlnGlnValAlaSerPheCysArgGlyTyrTrpLeuSerLeuTrpAlaAspAspProAlaValGlyGlyGlnGlnThrGlnAlaAlaLeuArgGlyGlyIlePheGlyLeuLeuGlyCysLeuGlnAlaIleGlyLeuPheAlaSerMetAlaAlaValLeuLeuGlyGlyAlaArgAlaSerArgLeuLeuPheGlnArgLeuLeuTrpAspValValArgSerProIleSerPhePheGluArgThrProIleGlyHisLeuLeuAsnArgPheSerLysGluThrAspThrValAspValAspIleProAspLysLeuArgSerLeuLeuMetTyrAlaPheGlyLeuLeuGluValSerLeuValValAlaValAlaThrProLeuAlaThrValAlaIleLeuProLeuPheLeuLeuTyrAlaGlyPheGlnSerLeuTyrValValSerSerCysGlnLeuArgArgLeuGluSerAlaSerTyrSerSerValCysSerHisMetAlaGluThrPheGlnGlySerThrValValArgAlaPheArgThrGlnAlaProPheValAlaGlnAsnAsnAlaArgValAspGluSerGlnArgIleSerPheProArgLeuValAlaAspArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuAlaSerGlyLeuLeuArgLeuGlnGluAlaAlaGluGlyGlyIleTrpIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247821" }, { "coordinates": [ { "allele": "A", "end": 2304, "referenceAllele": "C", "start": 2303 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "ENST00000456970.6:c.2304C>A" ], "proteinEffect": { "hgvs": "ENSP00000405002.2:p.Tyr768Ter", "hgvsWellDefined": "ENSP00000405002.2:p.Tyr768_Gly871delinsArgLysAlaAlaValTyrLeuLeuAspAspProLeuAlaAlaLeuAspAlaHisValGlyGlnHisValPheAsnGlnValIleGlyProGlyGlyLeuLeuGlnGlyThrLysGlnAsnLeuGlyProAlaProArgThrProGluAlaProLeuGlnAlaGlyGlyProSerLeuAspAlaArgGlyProSerSerGlnSerLeuArgArgThrValProLeuGlnLysProArgGlnArgPheLeuTrpMetThrLeuThrGlyGlnAspGlyGlnGlnGluArgThrAlaSerAsnThrAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS303727" }, { "coordinates": [ { "allele": "A", "end": 2341, "referenceAllele": "C", "start": 2340 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "ENST00000622290.4:c.2304C>A" ], "proteinEffect": { "hgvs": "ENSP00000483331.1:p.Tyr768Ter", "hgvsWellDefined": "ENSP00000483331.1:p.Tyr768_Gly871delinsArgLysAlaAlaValTyrLeuLeuAspAspProLeuAlaAlaLeuAspAlaHisValGlyGlnHisValPheAsnGlnValIleGlyProGlyGlyLeuLeuGlnGlyThrLysGlnAsnLeuGlyProAlaProArgThrProGluAlaProLeuGlnAlaGlyGlyProSerLeuAspAlaArgGlyProSerSerGlnSerLeuArgArgThrValProLeuGlnLysProArgGlnArgPheLeuTrpMetThrLeuThrGlyGlnAspGlyGlnGlnGluArgThrAlaSerAsnThrAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405655" }, { "@id": "http://reg.genome.network/allele/PA645510861", "coordinates": [ { "allele": "A", "end": 2341, "referenceAllele": "C", "start": 2340 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "NM_001171.5:c.2304C>A" ], "proteinEffect": { "hgvs": "NP_001162.4:p.Tyr768Ter", "hgvsWellDefined": "NP_001162.4:p.Tyr768_Val1503delinsArgLysAlaAlaValTyrLeuLeuAspAspProLeuAlaAlaLeuAspAlaHisValGlyGlnHisValPheAsnGlnValIleGlyProGlyGlyLeuLeuGlnGlyThrThrArgIleLeuValThrHisAlaLeuHisIleLeuProGlnAlaAspTrpIleIleValLeuAlaAsnGlyAlaIleAlaGluMetGlySerTyrGlnGluLeuLeuGlnArgLysGlyAlaLeuValCysLeuLeuAspGlnAlaArgGlnProGlyAspArgGlyGluGlyGluThrGluProGlyThrSerThrLysAspProArgGlyThrSerAlaGlyArgArgProGluLeuArgArgGluArgSerIleLysSerValProGluLysAspArgThrThrSerGluAlaGlnThrGluValProLeuAspAspProAspArgAlaGlyTrpProAlaGlyLysAspSerIleGlnTyrGlyArgValLysAlaThrValHisLeuAlaTyrLeuArgAlaValGlyThrProLeuCysLeuTyrAlaLeuPheLeuPheLeuCysGlnGlnValAlaSerPheCysArgGlyTyrTrpLeuSerLeuTrpAlaAspAspProAlaValGlyGlyGlnGlnThrGlnAlaAlaLeuArgGlyGlyIlePheGlyLeuLeuGlyCysLeuGlnAlaIleGlyLeuPheAlaSerMetAlaAlaValLeuLeuGlyGlyAlaArgAlaSerArgLeuLeuPheGlnArgLeuLeuTrpAspValValArgSerProIleSerPhePheGluArgThrProIleGlyHisLeuLeuAsnArgPheSerLysGluThrAspThrValAspValAspIleProAspLysLeuArgSerLeuLeuMetTyrAlaPheGlyLeuLeuGluValSerLeuValValAlaValAlaThrProLeuAlaThrValAlaIleLeuProLeuPheLeuLeuTyrAlaGlyPheGlnSerLeuTyrValValSerSerCysGlnLeuArgArgLeuGluSerAlaSerTyrSerSerValCysSerHisMetAlaGluThrPheGlnGlySerThrValValArgAlaPheArgThrGlnAlaProPheValAlaGlnAsnAsnAlaArgValAspGluSerGlnArgIleSerPheProArgLeuValAlaAspArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuAlaSerGlyLeuLeuArgLeuGlnGluAlaAlaGluGlyGlyIleTrpIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015270" }, { "coordinates": [ { "allele": "A", "end": 2534, "referenceAllele": "C", "start": 2533 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_011522479.1:c.2304C>A" ], "proteinEffect": { "hgvs": "XP_011520781.1:p.Tyr768Ter", "hgvsWellDefined": "XP_011520781.1:p.Tyr768_Val1492delinsArgLysAlaAlaValTyrLeuLeuAspAspProLeuAlaAlaLeuAspAlaHisValGlyGlnHisValPheAsnGlnThrArgIleLeuValThrHisAlaLeuHisIleLeuProGlnAlaAspTrpIleIleValLeuAlaAsnGlyAlaIleAlaGluMetGlySerTyrGlnGluLeuLeuGlnArgLysGlyAlaLeuMetCysLeuLeuAspGlnAlaArgGlnProGlyAspArgGlyGluGlyGluThrGluProGlyThrSerThrLysAspProArgGlyThrSerAlaGlyArgArgProGluLeuArgArgGluArgSerIleLysSerValProGluLysAspArgThrThrSerGluAlaGlnThrGluValProLeuAspAspProAspArgAlaGlyTrpProAlaGlyLysAspSerIleGlnTyrGlyArgValLysAlaThrValHisLeuAlaTyrLeuArgAlaValGlyThrProLeuCysLeuTyrAlaLeuPheLeuPheLeuCysGlnGlnValAlaSerPheCysArgGlyTyrTrpLeuSerLeuTrpAlaAspAspProAlaValGlyGlyGlnGlnThrGlnAlaAlaLeuArgGlyGlyIlePheGlyLeuLeuGlyCysLeuGlnAlaIleGlyLeuPheAlaSerMetAlaAlaValLeuLeuGlyGlyAlaArgAlaSerArgLeuLeuPheGlnArgLeuLeuTrpAspValValArgSerProIleSerPhePheGluArgThrProIleGlyHisLeuLeuAsnArgPheSerLysGluThrAspThrValAspValAspIleProAspLysLeuArgSerLeuLeuMetTyrAlaPheGlyLeuLeuGluValSerLeuValValAlaValAlaThrProLeuAlaThrValAlaIleLeuProLeuPheLeuLeuTyrAlaGlyPheGlnSerLeuTyrValValSerSerCysGlnLeuArgArgLeuGluSerAlaSerTyrSerSerValCysSerHisMetAlaGluThrPheGlnGlySerThrValValArgAlaPheArgThrGlnAlaProPheValAlaGlnAsnAsnAlaArgValAspGluSerGlnArgIleSerPheProArgLeuValAlaAspArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuAlaSerGlyLeuLeuArgLeuGlnGluAlaAlaGluGlyGlyIleTrpIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089630" }, { "coordinates": [ { "allele": "A", "end": 2289, "referenceAllele": "C", "start": 2288 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_011522480.1:c.1962C>A" ], "proteinEffect": { "hgvs": "XP_011520782.1:p.Tyr654Ter", "hgvsWellDefined": "XP_011520782.1:p.Tyr654_Val1389delinsArgLysAlaAlaValTyrLeuLeuAspAspProLeuAlaAlaLeuAspAlaHisValGlyGlnHisValPheAsnGlnValIleGlyProGlyGlyLeuLeuGlnGlyThrThrArgIleLeuValThrHisAlaLeuHisIleLeuProGlnAlaAspTrpIleIleValLeuAlaAsnGlyAlaIleAlaGluMetGlySerTyrGlnGluLeuLeuGlnArgLysGlyAlaLeuMetCysLeuLeuAspGlnAlaArgGlnProGlyAspArgGlyGluGlyGluThrGluProGlyThrSerThrLysAspProArgGlyThrSerAlaGlyArgArgProGluLeuArgArgGluArgSerIleLysSerValProGluLysAspArgThrThrSerGluAlaGlnThrGluValProLeuAspAspProAspArgAlaGlyTrpProAlaGlyLysAspSerIleGlnTyrGlyArgValLysAlaThrValHisLeuAlaTyrLeuArgAlaValGlyThrProLeuCysLeuTyrAlaLeuPheLeuPheLeuCysGlnGlnValAlaSerPheCysArgGlyTyrTrpLeuSerLeuTrpAlaAspAspProAlaValGlyGlyGlnGlnThrGlnAlaAlaLeuArgGlyGlyIlePheGlyLeuLeuGlyCysLeuGlnAlaIleGlyLeuPheAlaSerMetAlaAlaValLeuLeuGlyGlyAlaArgAlaSerArgLeuLeuPheGlnArgLeuLeuTrpAspValValArgSerProIleSerPhePheGluArgThrProIleGlyHisLeuLeuAsnArgPheSerLysGluThrAspThrValAspValAspIleProAspLysLeuArgSerLeuLeuMetTyrAlaPheGlyLeuLeuGluValSerLeuValValAlaValAlaThrProLeuAlaThrValAlaIleLeuProLeuPheLeuLeuTyrAlaGlyPheGlnSerLeuTyrValValSerSerCysGlnLeuArgArgLeuGluSerAlaSerTyrSerSerValCysSerHisMetAlaGluThrPheGlnGlySerThrValValArgAlaPheArgThrGlnAlaProPheValAlaGlnAsnAsnAlaArgValAspGluSerGlnArgIleSerPheProArgLeuValAlaAspArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuAlaSerGlyLeuLeuArgLeuGlnGluAlaAlaGluGlyGlyIleTrpIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089631" }, { "coordinates": [ { "allele": "A", "end": 2474, "referenceAllele": "C", "start": 2473 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_011522481.1:c.1962C>A" ], "proteinEffect": { "hgvs": "XP_011520783.1:p.Tyr654Ter", "hgvsWellDefined": "XP_011520783.1:p.Tyr654_Val1389delinsArgLysAlaAlaValTyrLeuLeuAspAspProLeuAlaAlaLeuAspAlaHisValGlyGlnHisValPheAsnGlnValIleGlyProGlyGlyLeuLeuGlnGlyThrThrArgIleLeuValThrHisAlaLeuHisIleLeuProGlnAlaAspTrpIleIleValLeuAlaAsnGlyAlaIleAlaGluMetGlySerTyrGlnGluLeuLeuGlnArgLysGlyAlaLeuMetCysLeuLeuAspGlnAlaArgGlnProGlyAspArgGlyGluGlyGluThrGluProGlyThrSerThrLysAspProArgGlyThrSerAlaGlyArgArgProGluLeuArgArgGluArgSerIleLysSerValProGluLysAspArgThrThrSerGluAlaGlnThrGluValProLeuAspAspProAspArgAlaGlyTrpProAlaGlyLysAspSerIleGlnTyrGlyArgValLysAlaThrValHisLeuAlaTyrLeuArgAlaValGlyThrProLeuCysLeuTyrAlaLeuPheLeuPheLeuCysGlnGlnValAlaSerPheCysArgGlyTyrTrpLeuSerLeuTrpAlaAspAspProAlaValGlyGlyGlnGlnThrGlnAlaAlaLeuArgGlyGlyIlePheGlyLeuLeuGlyCysLeuGlnAlaIleGlyLeuPheAlaSerMetAlaAlaValLeuLeuGlyGlyAlaArgAlaSerArgLeuLeuPheGlnArgLeuLeuTrpAspValValArgSerProIleSerPhePheGluArgThrProIleGlyHisLeuLeuAsnArgPheSerLysGluThrAspThrValAspValAspIleProAspLysLeuArgSerLeuLeuMetTyrAlaPheGlyLeuLeuGluValSerLeuValValAlaValAlaThrProLeuAlaThrValAlaIleLeuProLeuPheLeuLeuTyrAlaGlyPheGlnSerLeuTyrValValSerSerCysGlnLeuArgArgLeuGluSerAlaSerTyrSerSerValCysSerHisMetAlaGluThrPheGlnGlySerThrValValArgAlaPheArgThrGlnAlaProPheValAlaGlnAsnAsnAlaArgValAspGluSerGlnArgIleSerPheProArgLeuValAlaAspArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuAlaSerGlyLeuLeuArgLeuGlnGluAlaAlaGluGlyGlyIleTrpIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089632" }, { "coordinates": [ { "allele": "A", "end": 2543, "referenceAllele": "C", "start": 2542 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_011522482.1:c.2304C>A" ], "proteinEffect": { "hgvs": "XP_011520784.1:p.Tyr768Ter", "hgvsWellDefined": "XP_011520784.1:p.Tyr768_Ala887delinsArgLysAlaAlaValTyrLeuLeuAspAspProLeuAlaAlaLeuAspAlaHisValGlyGlnHisValPheAsnGlnValIleGlyProGlyGlyLeuLeuGlnGlyThrThrArgIleLeuValThrHisAlaLeuHisIleLeuProGlnAlaAspTrpIleIleValLeuAlaAsnGlyAlaIleAlaGluMetGlySerTyrGlnGluLeuLeuGlnArgLysGlyAlaLeuMetCysLeuLeuAspGlnAlaArgGlnProGlyAspArgGlyGluGlyGlyThrArgAsnArgThrTrpAspGlnHisGlnGlyProGlnArgHisLeuCysArgGlnGluAlaArgAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089633" }, { "coordinates": [ { "allele": "A", "end": 2539, "referenceAllele": "C", "start": 2538 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XR_932836.1:n.2539C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS128735" }, { "coordinates": [ { "allele": "A", "end": 2540, "referenceAllele": "C", "start": 2539 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XR_932837.1:n.2540C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS128736" }, { "coordinates": [ { "allele": "A", "end": 2540, "referenceAllele": "C", "start": 2539 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XR_932838.1:n.2540C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS128737" }, { "@id": "http://reg.genome.network/allele/PA2827627184", "coordinates": [ { "allele": "A", "end": 2372, "referenceAllele": "C", "start": 2371 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "NM_001351800.1:c.1962C>A" ], "proteinEffect": { "hgvs": "NP_001338729.1:p.Tyr654Ter", "hgvsWellDefined": "NP_001338729.1:p.Tyr654_Val1389delinsArgLysAlaAlaValTyrLeuLeuAspAspProLeuAlaAlaLeuAspAlaHisValGlyGlnHisValPheAsnGlnValIleGlyProGlyGlyLeuLeuGlnGlyThrThrArgIleLeuValThrHisAlaLeuHisIleLeuProGlnAlaAspTrpIleIleValLeuAlaAsnGlyAlaIleAlaGluMetGlySerTyrGlnGluLeuLeuGlnArgLysGlyAlaLeuValCysLeuLeuAspGlnAlaArgGlnProGlyAspArgGlyGluGlyGluThrGluProGlyThrSerThrLysAspProArgGlyThrSerAlaGlyArgArgProGluLeuArgArgGluArgSerIleLysSerValProGluLysAspArgThrThrSerGluAlaGlnThrGluValProLeuAspAspProAspArgAlaGlyTrpProAlaGlyLysAspSerIleGlnTyrGlyArgValLysAlaThrValHisLeuAlaTyrLeuArgAlaValGlyThrProLeuCysLeuTyrAlaLeuPheLeuPheLeuCysGlnGlnValAlaSerPheCysArgGlyTyrTrpLeuSerLeuTrpAlaAspAspProAlaValGlyGlyGlnGlnThrGlnAlaAlaLeuArgGlyGlyIlePheGlyLeuLeuGlyCysLeuGlnAlaIleGlyLeuPheAlaSerMetAlaAlaValLeuLeuGlyGlyAlaArgAlaSerArgLeuLeuPheGlnArgLeuLeuTrpAspValValArgSerProIleSerPhePheGluArgThrProIleGlyHisLeuLeuAsnArgPheSerLysGluThrAspThrValAspValAspIleProAspLysLeuArgSerLeuLeuMetTyrAlaPheGlyLeuLeuGluValSerLeuValValAlaValAlaThrProLeuAlaThrValAlaIleLeuProLeuPheLeuLeuTyrAlaGlyPheGlnSerLeuTyrValValSerSerCysGlnLeuArgArgLeuGluSerAlaSerTyrSerSerValCysSerHisMetAlaGluThrPheGlnGlySerThrValValArgAlaPheArgThrGlnAlaProPheValAlaGlnAsnAsnAlaArgValAspGluSerGlnArgIleSerPheProArgLeuValAlaAspArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuAlaSerGlyLeuLeuArgLeuGlnGluAlaAlaGluGlyGlyIleTrpIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520461" }, { "coordinates": [ { "allele": "A", "end": 2341, "referenceAllele": "C", "start": 2340 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "NR_147784.1:n.2341C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530836" }, { "coordinates": [ { "allele": "A", "end": 2485, "referenceAllele": "C", "start": 2484 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_011522479.2:c.2304C>A" ], "proteinEffect": { "hgvs": "XP_011520781.1:p.Tyr768Ter", "hgvsWellDefined": "XP_011520781.1:p.Tyr768_Val1492delinsArgLysAlaAlaValTyrLeuLeuAspAspProLeuAlaAlaLeuAspAlaHisValGlyGlnHisValPheAsnGlnThrArgIleLeuValThrHisAlaLeuHisIleLeuProGlnAlaAspTrpIleIleValLeuAlaAsnGlyAlaIleAlaGluMetGlySerTyrGlnGluLeuLeuGlnArgLysGlyAlaLeuMetCysLeuLeuAspGlnAlaArgGlnProGlyAspArgGlyGluGlyGluThrGluProGlyThrSerThrLysAspProArgGlyThrSerAlaGlyArgArgProGluLeuArgArgGluArgSerIleLysSerValProGluLysAspArgThrThrSerGluAlaGlnThrGluValProLeuAspAspProAspArgAlaGlyTrpProAlaGlyLysAspSerIleGlnTyrGlyArgValLysAlaThrValHisLeuAlaTyrLeuArgAlaValGlyThrProLeuCysLeuTyrAlaLeuPheLeuPheLeuCysGlnGlnValAlaSerPheCysArgGlyTyrTrpLeuSerLeuTrpAlaAspAspProAlaValGlyGlyGlnGlnThrGlnAlaAlaLeuArgGlyGlyIlePheGlyLeuLeuGlyCysLeuGlnAlaIleGlyLeuPheAlaSerMetAlaAlaValLeuLeuGlyGlyAlaArgAlaSerArgLeuLeuPheGlnArgLeuLeuTrpAspValValArgSerProIleSerPhePheGluArgThrProIleGlyHisLeuLeuAsnArgPheSerLysGluThrAspThrValAspValAspIleProAspLysLeuArgSerLeuLeuMetTyrAlaPheGlyLeuLeuGluValSerLeuValValAlaValAlaThrProLeuAlaThrValAlaIleLeuProLeuPheLeuLeuTyrAlaGlyPheGlnSerLeuTyrValValSerSerCysGlnLeuArgArgLeuGluSerAlaSerTyrSerSerValCysSerHisMetAlaGluThrPheGlnGlySerThrValValArgAlaPheArgThrGlnAlaProPheValAlaGlnAsnAsnAlaArgValAspGluSerGlnArgIleSerPheProArgLeuValAlaAspArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuAlaSerGlyLeuLeuArgLeuGlnGluAlaAlaGluGlyGlyIleTrpIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546607" }, { "coordinates": [ { "allele": "A", "end": 2487, "referenceAllele": "C", "start": 2486 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_011522481.3:c.1962C>A" ], "proteinEffect": { "hgvs": "XP_011520783.1:p.Tyr654Ter", "hgvsWellDefined": "XP_011520783.1:p.Tyr654_Val1389delinsArgLysAlaAlaValTyrLeuLeuAspAspProLeuAlaAlaLeuAspAlaHisValGlyGlnHisValPheAsnGlnValIleGlyProGlyGlyLeuLeuGlnGlyThrThrArgIleLeuValThrHisAlaLeuHisIleLeuProGlnAlaAspTrpIleIleValLeuAlaAsnGlyAlaIleAlaGluMetGlySerTyrGlnGluLeuLeuGlnArgLysGlyAlaLeuMetCysLeuLeuAspGlnAlaArgGlnProGlyAspArgGlyGluGlyGluThrGluProGlyThrSerThrLysAspProArgGlyThrSerAlaGlyArgArgProGluLeuArgArgGluArgSerIleLysSerValProGluLysAspArgThrThrSerGluAlaGlnThrGluValProLeuAspAspProAspArgAlaGlyTrpProAlaGlyLysAspSerIleGlnTyrGlyArgValLysAlaThrValHisLeuAlaTyrLeuArgAlaValGlyThrProLeuCysLeuTyrAlaLeuPheLeuPheLeuCysGlnGlnValAlaSerPheCysArgGlyTyrTrpLeuSerLeuTrpAlaAspAspProAlaValGlyGlyGlnGlnThrGlnAlaAlaLeuArgGlyGlyIlePheGlyLeuLeuGlyCysLeuGlnAlaIleGlyLeuPheAlaSerMetAlaAlaValLeuLeuGlyGlyAlaArgAlaSerArgLeuLeuPheGlnArgLeuLeuTrpAspValValArgSerProIleSerPhePheGluArgThrProIleGlyHisLeuLeuAsnArgPheSerLysGluThrAspThrValAspValAspIleProAspLysLeuArgSerLeuLeuMetTyrAlaPheGlyLeuLeuGluValSerLeuValValAlaValAlaThrProLeuAlaThrValAlaIleLeuProLeuPheLeuLeuTyrAlaGlyPheGlnSerLeuTyrValValSerSerCysGlnLeuArgArgLeuGluSerAlaSerTyrSerSerValCysSerHisMetAlaGluThrPheGlnGlySerThrValValArgAlaPheArgThrGlnAlaProPheValAlaGlnAsnAsnAlaArgValAspGluSerGlnArgIleSerPheProArgLeuValAlaAspArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuAlaSerGlyLeuLeuArgLeuGlnGluAlaAlaGluGlyGlyIleTrpIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546608" }, { "coordinates": [ { "allele": "A", "end": 2483, "referenceAllele": "C", "start": 2482 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_011522482.3:c.2304C>A" ], "proteinEffect": { "hgvs": "XP_011520784.1:p.Tyr768Ter", "hgvsWellDefined": "XP_011520784.1:p.Tyr768_Ala887delinsArgLysAlaAlaValTyrLeuLeuAspAspProLeuAlaAlaLeuAspAlaHisValGlyGlnHisValPheAsnGlnValIleGlyProGlyGlyLeuLeuGlnGlyThrThrArgIleLeuValThrHisAlaLeuHisIleLeuProGlnAlaAspTrpIleIleValLeuAlaAsnGlyAlaIleAlaGluMetGlySerTyrGlnGluLeuLeuGlnArgLysGlyAlaLeuMetCysLeuLeuAspGlnAlaArgGlnProGlyAspArgGlyGluGlyGlyThrArgAsnArgThrTrpAspGlnHisGlnGlyProGlnArgHisLeuCysArgGlnGluAlaArgAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546609" }, { "coordinates": [ { "allele": "A", "end": 2428, "endIntronDirection": "-", "endIntronOffset": 1282, "referenceAllele": "C", "start": 2428, "startIntronDirection": "-", "startIntronOffset": 1283 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_017023212.1:c.2248-1283C>A" ], "proteinEffect": { "hgvs": "XP_016878701.1:n.2248-1283C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS574012" }, { "coordinates": [ { "allele": "A", "end": 2486, "referenceAllele": "C", "start": 2485 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_017023214.1:c.2304C>A" ], "proteinEffect": { "hgvs": "XP_016878703.1:p.Tyr768Ter", "hgvsWellDefined": "XP_016878703.1:p.Tyr768_Cys1166delinsArgLysAlaAlaValTyrLeuLeuAspAspProLeuAlaAlaLeuAspAlaHisValGlyGlnHisValPheAsnGlnValIleGlyProGlyGlyLeuLeuGlnGlyThrThrArgIleLeuValThrHisAlaLeuHisIleLeuProGlnAlaAspTrpIleIleValLeuAlaAsnGlyAlaIleAlaGluMetGlySerTyrGlnGluLeuLeuGlnArgLysGlyAlaLeuMetCysLeuLeuAspGlnAlaArgGlnProGlyAspArgGlyGluGlyGluThrGluProGlyThrSerThrLysAspProArgGlyThrSerAlaGlyArgArgProGluLeuArgArgGluArgSerIleLysSerValProGluLysAspArgThrThrSerGluAlaGlnThrGluValProLeuAspAspProAspArgAlaGlyTrpProAlaGlyLysAspSerIleGlnTyrGlyArgValLysAlaThrValHisLeuAlaTyrLeuArgAlaValGlyThrProLeuCysLeuTyrAlaLeuPheLeuPheLeuCysGlnGlnValAlaSerPheCysArgGlyTyrTrpLeuSerLeuTrpAlaAspAspProAlaValGlyGlyGlnGlnThrGlnAlaAlaLeuArgGlyGlyIlePheGlyLeuLeuGlyCysLeuGlnAlaIleGlyLeuPheAlaSerMetAlaAlaValLeuLeuGlyGlyAlaArgAlaSerArgLeuLeuPheGlnArgLeuLeuTrpAspValValArgSerProIleSerPhePheGluArgThrProIleGlyHisLeuLeuAsnArgPheSerLysGluThrAspThrValAspValAspIleProAspLysLeuArgSerLeuLeuMetTyrAlaPheGlyLeuLeuGluValSerLeuValValAlaValAlaThrProLeuAlaThrValAlaIleLeuProLeuPheLeuLeuTyrAlaGlyPheGlnValAlaCysGlyGlnCysGlyAlaProGlyGluTrpProGlyValCysSerCysHisValCysCysAlaGluGlnSerProProGlnCysTrpProArgGlyLeuLeuCysLeuCysCysProProGlyThrProHisIleProLysLeuGlyLeuArgAspArgGlnArgGlnArgLeuSerAspProCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574013" }, { "coordinates": [ { "allele": "A", "end": 2523, "referenceAllele": "C", "start": 2522 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_024450261.1:c.2340C>A" ], "proteinEffect": { "hgvs": "XP_024306029.1:p.Tyr780Ter", "hgvsWellDefined": "XP_024306029.1:p.Tyr780_Val1515delinsArgLysAlaAlaValTyrLeuLeuAspAspProLeuAlaAlaLeuAspAlaHisValGlyGlnHisValPheAsnGlnValIleGlyProGlyGlyLeuLeuGlnGlyThrThrArgIleLeuValThrHisAlaLeuHisIleLeuProGlnAlaAspTrpIleIleValLeuAlaAsnGlyAlaIleAlaGluMetGlySerTyrGlnGluLeuLeuGlnArgLysGlyAlaLeuMetCysLeuLeuAspGlnAlaArgGlnProGlyAspArgGlyGluGlyGluThrGluProGlyThrSerThrLysAspProArgGlyThrSerAlaGlyArgArgProGluLeuArgArgGluArgSerIleLysSerValProGluLysAspArgThrThrSerGluAlaGlnThrGluValProLeuAspAspProAspArgAlaGlyTrpProAlaGlyLysAspSerIleGlnTyrGlyArgValLysAlaThrValHisLeuAlaTyrLeuArgAlaValGlyThrProLeuCysLeuTyrAlaLeuPheLeuPheLeuCysGlnGlnValAlaSerPheCysArgGlyTyrTrpLeuSerLeuTrpAlaAspAspProAlaValGlyGlyGlnGlnThrGlnAlaAlaLeuArgGlyGlyIlePheGlyLeuLeuGlyCysLeuGlnAlaIleGlyLeuPheAlaSerMetAlaAlaValLeuLeuGlyGlyAlaArgAlaSerArgLeuLeuPheGlnArgLeuLeuTrpAspValValArgSerProIleSerPhePheGluArgThrProIleGlyHisLeuLeuAsnArgPheSerLysGluThrAspThrValAspValAspIleProAspLysLeuArgSerLeuLeuMetTyrAlaPheGlyLeuLeuGluValSerLeuValValAlaValAlaThrProLeuAlaThrValAlaIleLeuProLeuPheLeuLeuTyrAlaGlyPheGlnSerLeuTyrValValSerSerCysGlnLeuArgArgLeuGluSerAlaSerTyrSerSerValCysSerHisMetAlaGluThrPheGlnGlySerThrValValArgAlaPheArgThrGlnAlaProPheValAlaGlnAsnAsnAlaArgValAspGluSerGlnArgIleSerPheProArgLeuValAlaAspArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuAlaSerGlyLeuLeuArgLeuGlnGluAlaAlaGluGlyGlyIleTrpIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583801" }, { "coordinates": [ { "allele": "A", "end": 2485, "referenceAllele": "C", "start": 2484 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XR_932836.2:n.2485C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS610311" }, { "coordinates": [ { "allele": "A", "end": 2485, "referenceAllele": "C", "start": 2484 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XR_932837.3:n.2485C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS610312" }, { "coordinates": [ { "allele": "A", "end": 2485, "referenceAllele": "C", "start": 2484 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XR_932838.3:n.2485C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS610313" }, { "@id": "http://reg.genome.network/allele/PA2573066619", "coordinates": [ { "allele": "A", "end": 2364, "referenceAllele": "C", "start": 2363 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "NM_001171.6:c.2304C>A" ], "proteinEffect": { "hgvs": "NP_001162.5:p.Tyr768Ter", "hgvsWellDefined": "NP_001162.5:p.Tyr768_Val1503delinsArgLysAlaAlaValTyrLeuLeuAspAspProLeuAlaAlaLeuAspAlaHisValGlyGlnHisValPheAsnGlnValIleGlyProGlyGlyLeuLeuGlnGlyThrThrArgIleLeuValThrHisAlaLeuHisIleLeuProGlnAlaAspTrpIleIleValLeuAlaAsnGlyAlaIleAlaGluMetGlySerTyrGlnGluLeuLeuGlnArgLysGlyAlaLeuMetCysLeuLeuAspGlnAlaArgGlnProGlyAspArgGlyGluGlyGluThrGluProGlyThrSerThrLysAspProArgGlyThrSerAlaGlyArgArgProGluLeuArgArgGluArgSerIleLysSerValProGluLysAspArgThrThrSerGluAlaGlnThrGluValProLeuAspAspProAspArgAlaGlyTrpProAlaGlyLysAspSerIleGlnTyrGlyArgValLysAlaThrValHisLeuAlaTyrLeuArgAlaValGlyThrProLeuCysLeuTyrAlaLeuPheLeuPheLeuCysGlnGlnValAlaSerPheCysArgGlyTyrTrpLeuSerLeuTrpAlaAspAspProAlaValGlyGlyGlnGlnThrGlnAlaAlaLeuArgGlyGlyIlePheGlyLeuLeuGlyCysLeuGlnAlaIleGlyLeuPheAlaSerMetAlaAlaValLeuLeuGlyGlyAlaArgAlaSerArgLeuLeuPheGlnArgLeuLeuTrpAspValValArgSerProIleSerPhePheGluArgThrProIleGlyHisLeuLeuAsnArgPheSerLysGluThrAspThrValAspValAspIleProAspLysLeuArgSerLeuLeuMetTyrAlaPheGlyLeuLeuGluValSerLeuValValAlaValAlaThrProLeuAlaThrValAlaIleLeuProLeuPheLeuLeuTyrAlaGlyPheGlnSerLeuTyrValValSerSerCysGlnLeuArgArgLeuGluSerAlaSerTyrSerSerValCysSerHisMetAlaGluThrPheGlnGlySerThrValValArgAlaPheArgThrGlnAlaProPheValAlaGlnAsnAsnAlaArgValAspGluSerGlnArgIleSerPheProArgLeuValAlaAspArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuAlaSerGlyLeuLeuArgLeuGlnGluAlaAlaGluGlyGlyIleTrpIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713353", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000205557.12:c.2304C>A" }, "RefSeq": { "hgvs": "NM_001171.6:c.2304C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000205557.7:p.Tyr768Ter" }, "RefSeq": { "hgvs": "NP_001162.5:p.Tyr768Ter" } } } } ], "type": "nucleotide" }