{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA353560964", "communityStandardTitle": [ "NM_001354604.2(MITF):c.649C>T (p.Arg217Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=282803", "active": true, "id": "COSM282803" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=481055[alleleid]", "alleleId": 481055, "preferredName": "NM_001354604.2(MITF):c.649C>T (p.Arg217Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/488040", "RCV": [ "RCV000626398", "RCV001848977", "RCV003767250" ], "variationId": 488040 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.69988315C>T?assembly=hg19", "id": "chr3:g.69988315C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.69939164C>T?assembly=hg38", "id": "chr3:g.69939164C>T" } ], "dbSNP": [ { "@id": 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"start": 204682 } ], "hgvs": [ "NG_011631.1:g.204683C>T", "LRG_776:g.204683C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001866" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 668, "referenceAllele": "C", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000314589.11:c.601C>T" ], "proteinEffect": { "hgvs": "ENSP00000324443.5:p.Arg201Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS756165" }, { "coordinates": [ { "allele": "T", "end": 765, "referenceAllele": "C", "start": 764 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000642352.1:c.649C>T" ], "proteinEffect": { "hgvs": "ENSP00000494105.1:p.Arg217Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS766693" }, { "coordinates": [ { "allele": "T", "end": 464, "referenceAllele": "C", "start": 463 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000314557.10:c.328C>T" ], "proteinEffect": { "hgvs": "ENSP00000324246.6:p.Arg110Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS256974" }, { "coordinates": [ { "allele": "T", "end": 680, "referenceAllele": "C", "start": 679 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000314589.9:c.601C>T" ], "proteinEffect": { "hgvs": "ENSP00000324443.5:p.Arg201Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS256980" }, { "coordinates": [ { "allele": "T", "end": 677, "referenceAllele": "C", "start": 676 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000328528.10:c.646C>T" ], "proteinEffect": { "hgvs": "ENSP00000327867.6:p.Arg216Ter", "hgvsWellDefined": "ENSP00000327867.6:p.Arg216_Cys519delinsAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258925" }, { "coordinates": [ { "allele": "T", "end": 812, "referenceAllele": "C", "start": 811 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000352241.8:c.649C>T" ], "proteinEffect": { "hgvs": "ENSP00000295600.7:p.Arg217Ter", "hgvsWellDefined": "ENSP00000295600.7:p.Arg217_Cys520delinsAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262847" }, { "coordinates": [ { "allele": "T", "end": 448, "referenceAllele": "C", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000394351.7:c.328C>T" ], "proteinEffect": { "hgvs": "ENSP00000377880.3:p.Arg110Ter", "hgvsWellDefined": "ENSP00000377880.3:p.Arg110_Cys419delinsAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276136" }, { "coordinates": [ { "allele": "T", "end": 443, "referenceAllele": "C", "start": 442 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000433517.5:c.325C>T" ], "proteinEffect": { "hgvs": "ENSP00000411389.1:p.Arg109Ter", "hgvsWellDefined": "ENSP00000411389.1:p.Arg109_Tyr157del" }, "referenceSequence": "http://reg.genome.network/refseq/RS292582" }, { "coordinates": [ { "allele": "T", "end": 776, "referenceAllele": "C", "start": 775 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000448226.6:c.649C>T" ], "proteinEffect": { "hgvs": "ENSP00000391803.2:p.Arg217Ter", "hgvsWellDefined": "ENSP00000391803.2:p.Arg217_Cys526delinsAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS299629" }, { "coordinates": [ { "allele": "T", "end": 633, "referenceAllele": "C", "start": 632 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000451708.5:c.601C>T" ], "proteinEffect": { "hgvs": "ENSP00000398639.1:p.Arg201Ter", "hgvsWellDefined": "ENSP00000398639.1:p.Arg201Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS301298" }, { "coordinates": [ { "allele": "T", "end": 639, "referenceAllele": "C", "start": 638 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000461014.1:n.639C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS305631" }, { "coordinates": [ { "allele": "T", "end": 682, "referenceAllele": "C", "start": 681 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000472437.5:c.493C>T" ], "proteinEffect": { "hgvs": "ENSP00000418845.1:p.Arg165Ter", "hgvsWellDefined": "ENSP00000418845.1:p.Arg165_Cys468delinsAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS314406" }, { "coordinates": [ { "allele": "T", "end": 405, "endIntronDirection": "+", "endIntronOffset": 18, "referenceAllele": "C", "start": 405, "startIntronDirection": "+", "startIntronOffset": 17 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000478490.5:c.310+18C>T" ], "proteinEffect": { "hgvs": "ENSP00000433487.1:n.310+18C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS319090" }, { "coordinates": [ { "allele": "T", "end": 160, "referenceAllele": "C", "start": 159 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "ENST00000531774.1:c.160C>T" ], "proteinEffect": { "hgvs": "ENSP00000435909.1:p.Arg54Ter", "hgvsWellDefined": "ENSP00000435909.1:p.Arg54_Cys357delinsAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS356810" }, { "@id": "http://reg.genome.network/allele/PA2825105497", "coordinates": [ { "allele": "T", "end": 451, "referenceAllele": "C", "start": 450 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_000248.3:c.328C>T", "LRG_776t1:c.328C>T" ], "proteinEffect": { "hgvs": "NP_000239.1:p.Arg110Ter", "hgvsWellDefined": "NP_000239.1:p.Arg110_Cys419delinsAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006310" }, { "@id": "http://reg.genome.network/allele/PA2826151310", "coordinates": [ { "allele": "T", "end": 682, "referenceAllele": "C", "start": 681 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001184967.1:c.493C>T" ], "proteinEffect": { "hgvs": "NP_001171896.1:p.Arg165Ter", "hgvsWellDefined": "NP_001171896.1:p.Arg165_Cys468delinsAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016055" }, { "@id": "http://reg.genome.network/allele/PA2829651119", "coordinates": [ { "allele": "T", "end": 677, "referenceAllele": "C", "start": 676 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_006722.2:c.646C>T" ], "proteinEffect": { "hgvs": "NP_006713.1:p.Arg216Ter", "hgvsWellDefined": "NP_006713.1:p.Arg216_Cys519delinsAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS031711" }, { "@id": "http://reg.genome.network/allele/PA2830431178", "coordinates": [ { "allele": "T", "end": 451, "referenceAllele": "C", "start": 450 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198158.2:c.328C>T" ], "proteinEffect": { "hgvs": "NP_937801.1:p.Arg110Ter", "hgvsWellDefined": "NP_937801.1:p.Arg110_Cys413delinsAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044446" }, { "@id": "http://reg.genome.network/allele/PA658810030", "coordinates": [ { "allele": "T", "end": 812, "referenceAllele": "C", "start": 811 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198159.2:c.649C>T" ], "proteinEffect": { "hgvs": "NP_937802.1:p.Arg217Ter", "hgvsWellDefined": "NP_937802.1:p.Arg217_Cys520delinsAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044447" }, { "@id": "http://reg.genome.network/allele/PA2830432671", "coordinates": [ { "allele": "T", "end": 668, "referenceAllele": "C", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198177.2:c.601C>T" ], "proteinEffect": { "hgvs": "NP_937820.1:p.Arg201Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS044451" }, { "@id": "http://reg.genome.network/allele/PA916057507", "coordinates": [ { "allele": "T", "end": 283, "referenceAllele": "C", "start": 282 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198178.2:c.160C>T" ], "proteinEffect": { "hgvs": "NP_937821.2:p.Arg54Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS044452" }, { "coordinates": [ { "allele": "T", "end": 784, "referenceAllele": "C", "start": 783 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_005264754.1:c.649C>T" ], "proteinEffect": { "hgvs": "XP_005264811.1:p.Arg217Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS064358" }, { "coordinates": [ { "allele": "T", "end": 663, "referenceAllele": "C", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_005264755.2:c.601C>T" ], "proteinEffect": { "hgvs": "XP_005264812.1:p.Arg201Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS064359" }, { "coordinates": [ { "allele": "T", "end": 804, "referenceAllele": "C", "start": 803 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_006713164.2:c.493C>T" ], "proteinEffect": { "hgvs": "XP_006713227.1:p.Arg165Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS070030" }, { "coordinates": [ { "allele": "T", "end": 787, "referenceAllele": "C", "start": 786 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_011533722.1:c.646C>T" ], "proteinEffect": { "hgvs": "XP_011532024.1:p.Arg216Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS100743" }, { "coordinates": [ { "allele": "T", "end": 650, "referenceAllele": "C", "start": 649 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_011533723.1:c.598C>T" ], "proteinEffect": { "hgvs": "XP_011532025.1:p.Arg200Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS100744" }, { "coordinates": [ { "allele": "T", "end": 677, "referenceAllele": "C", "start": 676 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_011533724.1:c.493C>T" ], "proteinEffect": { "hgvs": "XP_011532026.1:p.Arg165Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS100745" }, { "coordinates": [ { "allele": "T", "end": 644, "referenceAllele": "C", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_011533725.1:c.481C>T" ], "proteinEffect": { "hgvs": "XP_011532027.1:p.Arg161Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS100746" }, { "coordinates": [ { "allele": "T", "end": 644, "referenceAllele": "C", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "XM_011533726.1:c.481C>T" ], "proteinEffect": { "hgvs": "XP_011532028.1:p.Arg161Ter", "hgvsWellDefined": "XP_011532028.1:p.Arg161_Cys464delinsAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100747" }, { "@id": "http://reg.genome.network/allele/PA2827881335", "coordinates": [ { "allele": "T", "end": 812, "referenceAllele": "C", "start": 811 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354604.1:c.649C>T" ], "proteinEffect": { "hgvs": "NP_001341533.1:p.Arg217Ter", "hgvsWellDefined": "NP_001341533.1:p.Arg217_Cys526delinsAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522548" }, { "@id": "http://reg.genome.network/allele/PA2827881538", "coordinates": [ { "allele": "T", "end": 809, "referenceAllele": "C", "start": 808 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354605.1:c.646C>T" ], "proteinEffect": { "hgvs": "NP_001341534.1:p.Arg216Ter", "hgvsWellDefined": "NP_001341534.1:p.Arg216_Cys525delinsAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522549" }, { "@id": "http://reg.genome.network/allele/PA2827881911", "coordinates": [ { "allele": "T", "end": 809, "referenceAllele": "C", "start": 808 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354606.1:c.646C>T" ], "proteinEffect": { "hgvs": "NP_001341535.1:p.Arg216Ter", "hgvsWellDefined": "NP_001341535.1:p.Arg216_Cys519delinsAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522550" }, { "@id": "http://reg.genome.network/allele/PA2827882276", "coordinates": [ { "allele": "T", "end": 941, "referenceAllele": "C", "start": 940 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354607.1:c.598C>T" ], "proteinEffect": { "hgvs": "NP_001341536.1:p.Arg200Ter", "hgvsWellDefined": "NP_001341536.1:p.Arg200_Cys503delinsAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522551" }, { "@id": "http://reg.genome.network/allele/PA2827882625", "coordinates": [ { "allele": "T", "end": 851, "referenceAllele": "C", "start": 850 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354608.1:c.493C>T" ], "proteinEffect": { "hgvs": "NP_001341537.1:p.Arg165Ter", "hgvsWellDefined": "NP_001341537.1:p.Arg165_Cys468delinsAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522552" }, { "@id": "http://reg.genome.network/allele/PA2826151310", "coordinates": [ { "allele": "T", "end": 734, "referenceAllele": "C", "start": 733 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001184967.2:c.493C>T" ], "proteinEffect": { "hgvs": "NP_001171896.1:p.Arg165Ter", "hgvsWellDefined": "NP_001171896.1:p.Arg165_Cys468delinsAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679051" }, { "@id": "http://reg.genome.network/allele/PA2827881335", "coordinates": [ { "allele": "T", "end": 783, "referenceAllele": "C", "start": 782 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354604.2:c.649C>T" ], "proteinEffect": { "hgvs": "NP_001341533.1:p.Arg217Ter", "hgvsWellDefined": "NP_001341533.1:p.Arg217_Cys526delinsAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690248", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000352241.9:c.649C>T" }, "RefSeq": { "hgvs": "NM_001354604.2:c.649C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000295600.8:p.Arg217Ter" }, "RefSeq": { "hgvs": "NP_001341533.1:p.Arg217Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827881538", "coordinates": [ { "allele": "T", "end": 780, "referenceAllele": "C", "start": 779 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354605.2:c.646C>T" ], "proteinEffect": { "hgvs": "NP_001341534.1:p.Arg216Ter", "hgvsWellDefined": "NP_001341534.1:p.Arg216_Cys525delinsAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690249" }, { "@id": "http://reg.genome.network/allele/PA2827881911", "coordinates": [ { "allele": "T", "end": 780, "referenceAllele": "C", "start": 779 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354606.2:c.646C>T" ], "proteinEffect": { "hgvs": "NP_001341535.1:p.Arg216Ter", "hgvsWellDefined": "NP_001341535.1:p.Arg216_Cys519delinsAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690250" }, { "@id": "http://reg.genome.network/allele/PA2827882276", "coordinates": [ { "allele": "T", "end": 912, "referenceAllele": "C", "start": 911 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354607.2:c.598C>T" ], "proteinEffect": { "hgvs": "NP_001341536.1:p.Arg200Ter", "hgvsWellDefined": "NP_001341536.1:p.Arg200_Cys503delinsAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690251" }, { "@id": "http://reg.genome.network/allele/PA2827882625", "coordinates": [ { "allele": "T", "end": 822, "referenceAllele": "C", "start": 821 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354608.2:c.493C>T" ], "proteinEffect": { "hgvs": "NP_001341537.1:p.Arg165Ter", "hgvsWellDefined": "NP_001341537.1:p.Arg165_Cys468delinsAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690252" }, { "@id": "http://reg.genome.network/allele/PA2830431178", "coordinates": [ { "allele": "T", "end": 459, "referenceAllele": "C", "start": 458 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198158.3:c.328C>T" ], "proteinEffect": { "hgvs": "NP_937801.1:p.Arg110Ter", "hgvsWellDefined": "NP_937801.1:p.Arg110_Cys413delinsAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701263" }, { "@id": "http://reg.genome.network/allele/PA658810030", "coordinates": [ { "allele": "T", "end": 783, "referenceAllele": "C", "start": 782 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198159.3:c.649C>T" ], "proteinEffect": { "hgvs": "NP_937802.1:p.Arg217Ter", "hgvsWellDefined": "NP_937802.1:p.Arg217_Cys520delinsAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701264" }, { "@id": "http://reg.genome.network/allele/PA2830432671", "coordinates": [ { "allele": "T", "end": 668, "referenceAllele": "C", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198177.3:c.601C>T" ], "proteinEffect": { "hgvs": "NP_937820.1:p.Arg201Ter", "hgvsWellDefined": "NP_937820.1:p.Arg201_Cys504delinsAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701267" }, { "@id": "http://reg.genome.network/allele/PA916057507", "coordinates": [ { "allele": "T", "end": 291, "referenceAllele": "C", "start": 290 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198178.3:c.160C>T" ], "proteinEffect": { "hgvs": "NP_937821.2:p.Arg54Ter", "hgvsWellDefined": "NP_937821.2:p.Arg54_Cys357delinsAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701268" }, { "@id": "http://reg.genome.network/allele/PA2825105497", "coordinates": [ { "allele": "T", "end": 459, "referenceAllele": "C", "start": 458 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_000248.4:c.328C>T" ], "proteinEffect": { "hgvs": "NP_000239.1:p.Arg110Ter", "hgvsWellDefined": "NP_000239.1:p.Arg110_Cys419delinsAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS710814", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394351.9:c.328C>T" }, "RefSeq": { "hgvs": "NM_000248.4:c.328C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377880.3:p.Arg110Ter" }, "RefSeq": { "hgvs": "NP_000239.1:p.Arg110Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829651119", "coordinates": [ { "allele": "T", "end": 677, "referenceAllele": "C", "start": 676 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_006722.3:c.646C>T" ], "proteinEffect": { "hgvs": "NP_006713.1:p.Arg216Ter", "hgvsWellDefined": "NP_006713.1:p.Arg216_Cys519delinsAlaSerCysMetGlnMetAspAspValIleAspAspIleIleSerLeuGluSerSerTyrAsnGluGluIleLeuGlyLeuMetAspProAlaLeuGlnMetAlaAsnThrLeuProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727772" } ], "type": "nucleotide" }