{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA257197", "communityStandardTitle": [ "NM_000254.3(MTR):c.3380dup (p.Ala1128GlyfsTer16)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29323[alleleid]", "alleleId": 29323, "preferredName": "NM_000254.3(MTR):c.3380dup (p.Ala1128fs)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14284", "RCV": [ "RCV000015354" ], "variationId": 14284 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.237057832dupA?assembly=hg19", "id": "chr1:g.237057832dupA" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.236894532dupA?assembly=hg38", "id": "chr1:g.236894532dupA" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/797044445", "rs": 797044445 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 236894532, "referenceAllele": "", "start": 236894532 } ], "hgvs": [ "NC_000001.11:g.236894532dup", "CM000663.2:g.236894532dup" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 237057832, "referenceAllele": "", "start": 237057832 } ], "hgvs": [ "NC_000001.10:g.237057832dup", "CM000663.1:g.237057832dup" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 235124455, "referenceAllele": "", "start": 235124455 } ], "hgvs": [ "NC_000001.9:g.235124455dup" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 104252, "referenceAllele": "", "start": 104252 } ], "hgvs": [ "NG_008959.1:g.104252dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS001330" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3792, "referenceAllele": "", "start": 3792 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "ENST00000366577.10:c.3380dup" ], "proteinEffect": { "hgvs": "ENSP00000355536.5:p.Ala1128GlyfsTer16", "hgvsWellDefined": "ENSP00000355536.5:p.[Ala1128_Leu1129delinsGlyAla;Asp1131_Leu1133delinsGlyPro;Glu1135_Glu1140delinsGlyArgGly;His1142_Glu1143delinsCys;Val1145del;Arg1147_Trp1150del;Tyr1152_Glu1156delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS749812", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000366577.10:c.3380dup" }, "RefSeq": { "hgvs": "NM_000254.3:c.3380dup" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355536.5:p.Ala1128GlyfsTer16" }, "RefSeq": { "hgvs": "NP_000245.2:p.Ala1128GlyfsTer16" } } } }, { "coordinates": [ { "allele": "A", "end": 3310, "referenceAllele": "", "start": 3310 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "ENST00000470570.2:n.3310dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS757000" }, { "coordinates": [ { "allele": "A", "end": 3249, "referenceAllele": "", "start": 3249 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "ENST00000535889.6:c.3227dup" ], "proteinEffect": { "hgvs": "ENSP00000441845.1:p.Ala1077GlyfsTer16", "hgvsWellDefined": "ENSP00000441845.1:p.[Ala1077_Leu1078delinsGlyAla;Asp1080_Leu1082delinsGlyPro;Glu1084_Glu1089delinsGlyArgGly;His1091_Glu1092delinsCys;Val1094del;Arg1096_Trp1099del;Tyr1101_Glu1105delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS759463" }, { "coordinates": [ { "allele": "A", "end": 3526, "referenceAllele": "", "start": 3526 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "ENST00000650888.1:c.*2422dup" ], "proteinEffect": { "hgvs": "ENSP00000498393.1:n.*2422dup" }, "referenceSequence": "http://reg.genome.network/refseq/RS771368" }, { "coordinates": [ { "allele": "A", "end": 3289, "referenceAllele": "", "start": 3289 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "ENST00000651455.1:c.*2124dup" ], "proteinEffect": { "hgvs": "ENSP00000498963.1:n.*2124dup" }, "referenceSequence": "http://reg.genome.network/refseq/RS771677" }, { "coordinates": [ { "allele": "A", "end": 3577, "referenceAllele": "", "start": 3577 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "ENST00000674797.2:c.3032dup" ], "proteinEffect": { "hgvs": "ENSP00000502299.2:p.Ala1012GlyfsTer16", "hgvsWellDefined": "ENSP00000502299.2:p.[Ala1012_Leu1013delinsGlyAla;Asp1015_Leu1017delinsGlyPro;Glu1019_Glu1024delinsGlyArgGly;His1026_Glu1027delinsCys;Val1029del;Arg1031_Trp1034del;Tyr1036_Glu1040delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS774710" }, { "coordinates": [ { "allele": "A", "end": 6507, "referenceAllele": "", "start": 6507 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "ENST00000679569.1:n.6507dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS779197" }, { "coordinates": [ { "allele": "A", "end": 3191, "referenceAllele": "", "start": 3191 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "ENST00000679842.1:c.3191dup" ], "proteinEffect": { "hgvs": "ENSP00000506109.1:p.Ala1065GlyfsTer16", "hgvsWellDefined": "ENSP00000506109.1:p.[Ala1065_Leu1066delinsGlyAla;Asp1068_Leu1070delinsGlyPro;Glu1072_Glu1077delinsGlyArgGly;His1079_Glu1080delinsCys;Val1082del;Arg1084_Trp1087del;Tyr1089_Glu1093delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS779464" }, { "coordinates": [ { "allele": "A", "end": 6637, "referenceAllele": "", "start": 6637 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "ENST00000680454.1:n.6637dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS780071" }, { "coordinates": [ { "allele": "A", "end": 3200, "referenceAllele": "", "start": 3200 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "ENST00000681102.1:c.3200dup" ], "proteinEffect": { "hgvs": "ENSP00000505600.1:p.Ala1068GlyfsTer16", "hgvsWellDefined": "ENSP00000505600.1:p.[Ala1068_Leu1069delinsGlyAla;Asp1071_Leu1073delinsGlyPro;Glu1075_Glu1080delinsGlyArgGly;His1082_Glu1083delinsCys;Val1085del;Arg1087_Trp1090del;Tyr1092_Glu1096delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS780714" }, { "coordinates": [ { "allele": "A", "end": 2942, "referenceAllele": "", "start": 2942 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "ENST00000681177.1:c.2942dup" ], "proteinEffect": { "hgvs": "ENSP00000506327.1:p.Ala982GlyfsTer16", "hgvsWellDefined": "ENSP00000506327.1:p.[Ala982_Leu983delinsGlyAla;Asp985_Leu987delinsGlyPro;Glu989_Glu994delinsGlyArgGly;His996_Glu997delinsCys;Val999del;Arg1001_Trp1004del;Tyr1006_Glu1010delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS780789" }, { "coordinates": [ { "allele": "A", "end": 3574, "referenceAllele": "", "start": 3574 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "ENST00000681937.1:n.3574dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS781536" }, { "coordinates": [ { "allele": "A", "end": 2042, "referenceAllele": "", "start": 2042 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "ENST00000366576.3:c.2042dup" ], "proteinEffect": { "hgvs": "ENSP00000355535.3:p.Ala682GlyfsTer16", "hgvsWellDefined": "ENSP00000355535.3:p.[Ala682_Leu683delinsGlyAla;Asp685_Leu687delinsGlyPro;Glu689_Glu694delinsGlyArgGly;His696_Glu697delinsCys;Val699del;Arg701_Trp704del;Tyr706_Glu710delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS265902" }, { "coordinates": [ { "allele": "A", "end": 3774, "referenceAllele": "", "start": 3774 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "ENST00000366577.9:c.3380dup" ], "proteinEffect": { "hgvs": "ENSP00000355536.5:p.Ala1128GlyfsTer16", "hgvsWellDefined": "ENSP00000355536.5:p.[Ala1128_Leu1129delinsGlyAla;Asp1131_Leu1133delinsGlyPro;Glu1135_Glu1140delinsGlyArgGly;His1142_Glu1143delinsCys;Val1145del;Arg1147_Trp1150del;Tyr1152_Glu1156delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS265903" }, { "coordinates": [ { "allele": "A", "end": 192, "referenceAllele": "", "start": 192 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "ENST00000470570.1:n.192dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS312973" }, { "coordinates": [ { "allele": "A", "end": 3650, "referenceAllele": "", "start": 3650 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "ENST00000535889.5:c.3227dup" ], "proteinEffect": { "hgvs": "ENSP00000441845.1:p.Ala1077GlyfsTer16", "hgvsWellDefined": "ENSP00000441845.1:p.[Ala1077_Leu1078delinsGlyAla;Asp1080_Leu1082delinsGlyPro;Glu1084_Glu1089delinsGlyArgGly;His1091_Glu1092delinsCys;Val1094del;Arg1096_Trp1099del;Tyr1101_Glu1105delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS359978" }, { "coordinates": [ { "allele": "A", "end": 3803, "referenceAllele": "", "start": 3803 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "NM_000254.2:c.3380dup" ], "proteinEffect": { "hgvs": "NP_000245.2:p.Ala1128GlyfsTer16", "hgvsWellDefined": "NP_000245.2:p.[Ala1128_Leu1129delinsGlyAla;Asp1131_Leu1133delinsGlyPro;Glu1135_Glu1140delinsGlyArgGly;His1142_Glu1143delinsCys;Val1145del;Arg1147_Trp1150del;Tyr1152_Glu1156delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS006316" }, { "coordinates": [ { "allele": "A", "end": 3650, "referenceAllele": "", "start": 3650 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "NM_001291939.1:c.3227dup" ], "proteinEffect": { "hgvs": "NP_001278868.1:p.Ala1077GlyfsTer16", "hgvsWellDefined": "NP_001278868.1:p.[Ala1077_Leu1078delinsGlyAla;Asp1080_Leu1082delinsGlyPro;Glu1084_Glu1089delinsGlyArgGly;His1091_Glu1092delinsCys;Val1094del;Arg1096_Trp1099del;Tyr1101_Glu1105delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS024380" }, { "coordinates": [ { "allele": "A", "end": 3690, "referenceAllele": "", "start": 3690 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "NM_001291940.1:c.2159dup" ], "proteinEffect": { "hgvs": "NP_001278869.1:p.Ala721GlyfsTer16", "hgvsWellDefined": "NP_001278869.1:p.[Ala721_Leu722delinsGlyAla;Asp724_Leu726delinsGlyPro;Glu728_Glu733delinsGlyArgGly;His735_Glu736delinsCys;Val738del;Arg740_Trp743del;Tyr745_Glu749delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS024381" }, { "coordinates": [ { "allele": "A", "end": 4777, "referenceAllele": "", "start": 4777 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "XM_005273141.3:c.3377dup" ], "proteinEffect": { "hgvs": "XP_005273198.1:p.Ala1127GlyfsTer16", "hgvsWellDefined": "XP_005273198.1:p.[Ala1127_Leu1128delinsGlyAla;Asp1130_Leu1132delinsGlyPro;Glu1134_Glu1139delinsGlyArgGly;His1141_Glu1142delinsCys;Val1144del;Arg1146_Trp1149del;Tyr1151_Glu1155delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS067461" }, { "coordinates": [ { "allele": "A", "end": 4780, "referenceAllele": "", "start": 4780 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "XM_006711769.2:c.3380dup" ], "proteinEffect": { "hgvs": "XP_006711832.1:p.Ala1128GlyfsTer?", "hgvsWellDefined": "XP_006711832.1:p.[Lys1127_Ala1128insGly;Leu1129Gly;Asp1131delinsProAlaGly;Arg1132_Leu1133insGluPro;Ala1134_Glu1135delinsValValMetLeuVal;Pro1137delinsSerIleAsp;Leu1139delinsSerSerSerSerAlaTrpAsnGluGly]" }, "referenceSequence": "http://reg.genome.network/refseq/RS069291" }, { "coordinates": [ { "allele": "A", "end": 2751, "referenceAllele": "", "start": 2751 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "XM_006711770.1:c.2444dup" ], "proteinEffect": { "hgvs": "XP_006711833.1:p.Ala816GlyfsTer16", "hgvsWellDefined": "XP_006711833.1:p.[Ala816_Leu817delinsGlyAla;Asp819_Leu821delinsGlyPro;Glu823_Glu828delinsGlyArgGly;His830_Glu831delinsCys;Val833del;Arg835_Trp838del;Tyr840_Glu844delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS069292" }, { "coordinates": [ { "allele": "A", "end": 4591, "referenceAllele": "", "start": 4591 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "XM_011544193.1:c.3191dup" ], "proteinEffect": { "hgvs": "XP_011542495.1:p.Ala1065GlyfsTer16", "hgvsWellDefined": "XP_011542495.1:p.[Ala1065_Leu1066delinsGlyAla;Asp1068_Leu1070delinsGlyPro;Glu1072_Glu1077delinsGlyArgGly;His1079_Glu1080delinsCys;Val1082del;Arg1084_Trp1087del;Tyr1089_Glu1093delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS111105" }, { "coordinates": [ { "allele": "A", "end": 4565, "referenceAllele": "", "start": 4565 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "XM_011544194.1:c.3548dup" ], "proteinEffect": { "hgvs": "XP_011542496.1:p.Ala1184GlyfsTer16", "hgvsWellDefined": "XP_011542496.1:p.[Ala1184_Leu1185delinsGlyAla;Asp1187_Leu1189delinsGlyPro;Glu1191_Glu1196delinsGlyArgGly;His1198_Glu1199delinsCys;Val1201del;Arg1203_Trp1206del;Tyr1208_Glu1212delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS111106" }, { "coordinates": [ { "allele": "A", "end": 3772, "referenceAllele": "", "start": 3772 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "XM_005273141.5:c.3377dup" ], "proteinEffect": { "hgvs": "XP_005273198.1:p.Ala1127GlyfsTer16", "hgvsWellDefined": "XP_005273198.1:p.[Ala1127_Leu1128delinsGlyAla;Asp1130_Leu1132delinsGlyPro;Glu1134_Glu1139delinsGlyArgGly;His1141_Glu1142delinsCys;Val1144del;Arg1146_Trp1149del;Tyr1151_Glu1155delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS537391" }, { "coordinates": [ { "allele": "A", "end": 2751, "referenceAllele": "", "start": 2751 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "XM_006711770.3:c.2444dup" ], "proteinEffect": { "hgvs": "XP_006711833.1:p.Ala816GlyfsTer16", "hgvsWellDefined": "XP_006711833.1:p.[Ala816_Leu817delinsGlyAla;Asp819_Leu821delinsGlyPro;Glu823_Glu828delinsGlyArgGly;His830_Glu831delinsCys;Val833del;Arg835_Trp838del;Tyr840_Glu844delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS538076" }, { "coordinates": [ { "allele": "A", "end": 4565, "referenceAllele": "", "start": 4565 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "XM_011544194.3:c.3548dup" ], "proteinEffect": { "hgvs": "XP_011542496.1:p.Ala1184GlyfsTer16", "hgvsWellDefined": "XP_011542496.1:p.[Ala1184_Leu1185delinsGlyAla;Asp1187_Leu1189delinsGlyPro;Glu1191_Glu1196delinsGlyArgGly;His1198_Glu1199delinsCys;Val1201del;Arg1203_Trp1206del;Tyr1208_Glu1212delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS555551" }, { "coordinates": [ { "allele": "A", "end": 4412, "referenceAllele": "", "start": 4412 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "XM_017001329.2:c.3395dup" ], "proteinEffect": { "hgvs": "XP_016856818.1:p.Ala1133GlyfsTer16", "hgvsWellDefined": "XP_016856818.1:p.[Ala1133_Leu1134delinsGlyAla;Asp1136_Leu1138delinsGlyPro;Glu1140_Glu1145delinsGlyArgGly;His1147_Glu1148delinsCys;Val1150del;Arg1152_Trp1155del;Tyr1157_Glu1161delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS557531" }, { "coordinates": [ { "allele": "A", "end": 4376, "referenceAllele": "", "start": 4376 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "XM_017001330.2:c.3359dup" ], "proteinEffect": { "hgvs": "XP_016856819.1:p.Ala1121GlyfsTer16", "hgvsWellDefined": "XP_016856819.1:p.[Ala1121_Leu1122delinsGlyAla;Asp1124_Leu1126delinsGlyPro;Glu1128_Glu1133delinsGlyArgGly;His1135_Glu1136delinsCys;Val1138del;Arg1140_Trp1143del;Tyr1145_Glu1149delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS557532" }, { "coordinates": [ { "allele": "A", "end": 3679, "referenceAllele": "", "start": 3679 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "NM_001291940.2:c.2159dup" ], "proteinEffect": { "hgvs": "NP_001278869.1:p.Ala721GlyfsTer16", "hgvsWellDefined": "NP_001278869.1:p.[Ala721_Leu722delinsGlyAla;Asp724_Leu726delinsGlyPro;Glu728_Glu733delinsGlyArgGly;His735_Glu736delinsCys;Val738del;Arg740_Trp743del;Tyr745_Glu749delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS682908" }, { "coordinates": [ { "allele": "A", "end": 3792, "referenceAllele": "", "start": 3792 } ], "gene": "http://reg.genome.network/gene/GN007468", "geneNCBI_id": 4548, "geneSymbol": "MTR", "hgvs": [ "NM_000254.3:c.3380dup" ], "proteinEffect": { "hgvs": "NP_000245.2:p.Ala1128GlyfsTer16", "hgvsWellDefined": "NP_000245.2:p.[Ala1128_Leu1129delinsGlyAla;Asp1131_Leu1133delinsGlyPro;Glu1135_Glu1140delinsGlyArgGly;His1142_Glu1143delinsCys;Val1145del;Arg1147_Trp1150del;Tyr1152_Glu1156delinsPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS710816", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000366577.10:c.3380dup" }, "RefSeq": { "hgvs": "NM_000254.3:c.3380dup" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355536.5:p.Ala1128GlyfsTer16" }, "RefSeq": { "hgvs": "NP_000245.2:p.Ala1128GlyfsTer16" } } } } ], "type": "nucleotide" }