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"proteinEffect": { "hgvs": "NP_001268654.1:p.Trp389CysfsTer?", "hgvsWellDefined": "NP_001268654.1:p.[Trp389_Glu392delinsCysSerAsn;Tyr394del;His396_Cys398delinsSerThr;Asn400_Leu407delinsValProMetAlaSerAlaValIle;Glu409delinsPheThr;Arg410_Pro411insGly;Thr412_Ser414delinsProTyrPro;Glu416_Leu420delinsSerCysMetProTrp;Val422_Phe423delinsSerLeu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS021689" }, { "coordinates": [ { "allele": "TTCCAATGGCC", "end": 1567, "referenceAllele": "GGGAAAGGAAGGCTA", "start": 1552 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "XM_006713314.2:c.1167_1181delinsTTCCAATGGCC" ], "proteinEffect": { "hgvs": "XP_006713377.1:p.Trp389CysfsTer?", "hgvsWellDefined": "XP_006713377.1:p.[Trp389_Glu392delinsCysSerAsn;Tyr394del;His396_Cys398delinsSerThr;Asn400_Leu407delinsValProMetAlaSerAlaValIle;Glu409delinsPheThr;Arg410_Pro411insGly;Thr412_Ser414delinsProTyrPro;Glu416_Leu420delinsSerCysMetProTrp;Val422_Phe423delinsSerLeu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS070104" }, { "coordinates": [ { "allele": "TTCCAATGGCC", "end": 1464, "referenceAllele": "GGGAAAGGAAGGCTA", "start": 1449 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "XM_011534041.1:c.1167_1181delinsTTCCAATGGCC" ], "proteinEffect": { "hgvs": "XP_011532343.1:p.Trp389CysfsTer?", "hgvsWellDefined": "XP_011532343.1:p.[Trp389_Glu392delinsCysSerAsn;Tyr394del;His396_Cys398delinsSerThr;Asn400_Leu407delinsValProMetAlaSerAlaValIle;Glu409delinsPheThr;Arg410_Pro411insGly;Thr412_Ser414delinsProTyrPro;Glu416_Leu420delinsSerCysMetProTrp;Val422_Phe423delinsSerLeu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS101059" }, { "coordinates": [ { "allele": "TTCCAATGGCC", "end": 1347, "referenceAllele": "GGGAAAGGAAGGCTA", "start": 1332 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_000060.4:c.1227_1241delinsTTCCAATGGCC" ], "proteinEffect": { "hgvs": "NP_000051.1:p.Trp409CysfsTer?", "hgvsWellDefined": "NP_000051.1:p.[Trp409_Glu412delinsCysSerAsn;Tyr414del;His416_Cys418delinsSerThr;Asn420_Leu427delinsValProMetAlaSerAlaValIle;Glu429delinsPheThr;Arg430_Pro431insGly;Thr432_Ser434delinsProTyrPro;Glu436_Leu440delinsSerCysMetProTrp;Val442_Phe443delinsSerLeu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS510748" }, { "coordinates": [ { "allele": "TTCCAATGGCC", "end": 1616, "referenceAllele": "GGGAAAGGAAGGCTA", "start": 1601 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001281723.2:c.1233_1247delinsTTCCAATGGCC" ], "proteinEffect": { "hgvs": "NP_001268652.1:p.Trp411CysfsTer?", "hgvsWellDefined": "NP_001268652.1:p.[Trp411_Glu414delinsCysSerAsn;Tyr416del;His418_Cys420delinsSerThr;Asn422_Leu429delinsValProMetAlaSerAlaValIle;Glu431delinsPheThr;Arg432_Pro433insGly;Thr434_Ser436delinsProTyrPro;Glu438_Leu442delinsSerCysMetProTrp;Val444_Phe445delinsSerLeu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS512079" }, { "coordinates": [ { "allele": "TTCCAATGGCC", "end": 1535, "referenceAllele": "GGGAAAGGAAGGCTA", "start": 1520 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001281724.2:c.1233_1247delinsTTCCAATGGCC" ], "proteinEffect": { "hgvs": "NP_001268653.1:p.Trp411CysfsTer?", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS512081" }, { "coordinates": [ { "allele": "TTCCAATGGCC", "end": 1623, "referenceAllele": "GGGAAAGGAAGGCTA", "start": 1608 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001323582.1:c.1167_1181delinsTTCCAATGGCC" ], "proteinEffect": { "hgvs": "NP_001310511.1:p.Trp389CysfsTer?", "hgvsWellDefined": "NP_001310511.1:p.[Trp389_Glu392delinsCysSerAsn;Tyr394del;His396_Cys398delinsSerThr;Asn400_Leu407delinsValProMetAlaSerAlaValIle;Glu409delinsPheThr;Arg410_Pro411insGly;Thr412_Ser414delinsProTyrPro;Glu416_Leu420delinsSerCysMetProTrp;Val422_Phe423delinsSerLeu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS515472" }, { "coordinates": [ { "allele": "TTCCAATGGCC", "end": 1464, "referenceAllele": "GGGAAAGGAAGGCTA", "start": 1449 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "XM_011534041.2:c.1167_1181delinsTTCCAATGGCC" ], "proteinEffect": { "hgvs": "XP_011532343.1:p.Trp389CysfsTer?", "hgvsWellDefined": "XP_011532343.1:p.[Trp389_Glu392delinsCysSerAsn;Tyr394del;His396_Cys398delinsSerThr;Asn400_Leu407delinsValProMetAlaSerAlaValIle;Glu409delinsPheThr;Arg410_Pro411insGly;Thr412_Ser414delinsProTyrPro;Glu416_Leu420delinsSerCysMetProTrp;Val422_Phe423delinsSerLeu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS551484" }, { "coordinates": [ { "allele": "TTCCAATGGCC", "end": 1740, "referenceAllele": "GGGAAAGGAAGGCTA", "start": 1725 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "XM_017007088.1:c.1167_1181delinsTTCCAATGGCC" ], "proteinEffect": { "hgvs": "XP_016862577.1:p.Trp389CysfsTer?", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS587099" }, { "coordinates": [ { "allele": "TTCCAATGGCC", "end": 1616, "referenceAllele": "GGGAAAGGAAGGCTA", "start": 1601 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001281723.3:c.1167_1181delinsTTCCAATGGCC" ], "proteinEffect": { "hgvs": "NP_001268652.2:p.Trp389CysfsTer?", "hgvsWellDefined": "NP_001268652.2:p.[Trp389_Glu392delinsCysSerAsn;Tyr394del;His396_Cys398delinsSerThr;Asn400_Leu407delinsValProMetAlaSerAlaValIle;Glu409delinsPheThr;Arg410_Pro411insGly;Thr412_Ser414delinsProTyrPro;Glu416_Leu420delinsSerCysMetProTrp;Val422_Phe423delinsSerLeu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS681660" }, { "coordinates": [ { "allele": "TTCCAATGGCC", "end": 1535, "referenceAllele": "GGGAAAGGAAGGCTA", "start": 1520 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001281724.3:c.1167_1181delinsTTCCAATGGCC" ], "proteinEffect": { "hgvs": "NP_001268653.2:p.Trp389CysfsTer?", "hgvsWellDefined": "NP_001268653.2:p.[Trp389_Glu392delinsCysSerAsn;Tyr394del;His396_Cys398delinsSerThr;Asn400_Leu407delinsValProMetAlaSerAlaValIle;Glu409delinsPheThr;Arg410_Pro411insGly;Thr412_Ser414delinsProTyrPro;Glu416_Leu420delinsSerCysMetProTrp;Val422_Phe423delinsSerLeu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS681661" }, { "coordinates": [ { "allele": "TTCCAATGGCC", "end": 1347, "referenceAllele": "GGGAAAGGAAGGCTA", "start": 1332 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": "BTD", "hgvs": [ "NM_001370658.1:c.1167_1181delinsTTCCAATGGCC" ], "proteinEffect": { "hgvs": "NP_001357587.1:p.Trp389CysfsTer?", "hgvsWellDefined": "NP_001357587.1:p.[Trp389_Glu392delinsCysSerAsn;Tyr394del;His396_Cys398delinsSerThr;Asn400_Leu407delinsValProMetAlaSerAlaValIle;Glu409delinsPheThr;Arg410_Pro411insGly;Thr412_Ser414delinsProTyrPro;Glu416_Leu420delinsSerCysMetProTrp;Val422_Phe423delinsSerLeu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS692577", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000643237.3:c.1167_1181delinsTTCCAATGGCC" }, "RefSeq": { "hgvs": "NM_001370658.1:c.1167_1181delinsTTCCAATGGCC" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495254.2:p.Trp389CysfsTer?" }, "RefSeq": { "hgvs": "NP_001357587.1:p.Trp389CysfsTer?" } } } }, { "coordinates": [ { "allele": "TTCCAATGGCC", "end": 1181, "endIntronDirection": "+", "endIntronOffset": 166, "referenceAllele": "GGGAAAGGAAGGCTA", "start": 1181, "startIntronDirection": "+", "startIntronOffset": 151 } ], "gene": "http://reg.genome.network/gene/GN001122", "geneNCBI_id": 686, "geneSymbol": 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