{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2635780206", "communityStandardTitle": [ "NM_000018.4(ACADVL):c.316_325dup (p.Val109GlyfsTer18)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4908831[alleleid]", "alleleId": 4908831, "preferredName": "NM_000018.4(ACADVL):c.316_325dup (p.Val109fs)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4798951", "RCV": [ "RCV006618143" ], "variationId": 4798951 } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518506", "rs": 1057518506 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-7220800-G-GCTGGTGGAGC?dataset=gnomad_r4", "id": "17-7220800-G-GCTGGTGGAGC", "variant": "17:7220800 G / GCTGGTGGAGC" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "GTGGAGCCTG", "end": 7220813, "referenceAllele": "", "start": 7220813 } ], "hgvs": [ "NC_000017.11:g.7220804_7220813dup", "CM000679.2:g.7220804_7220813dup" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "GTGGAGCCTG", "end": 7124132, "referenceAllele": "", "start": 7124132 } ], "hgvs": [ "NC_000017.10:g.7124123_7124132dup", "CM000679.1:g.7124123_7124132dup" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "GTGGAGCCTG", "end": 7064856, "referenceAllele": "", "start": 7064856 } ], "hgvs": [ "NC_000017.9:g.7064847_7064856dup" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 5980, "referenceAllele": "", "start": 5980 } ], "hgvs": [ "NG_007975.1:g.5971_5980dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS000743" }, { "coordinates": [ { "allele": "CCACCAGGCT", "end": 4250, "referenceAllele": "", "start": 4250 } ], "hgvs": [ "NG_008391.2:g.4241_4250dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS001073" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 372, "referenceAllele": "", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "ENST00000356839.10:c.316_325dup" ], "proteinEffect": { "hgvs": "ENSP00000349297.5:p.Val109GlyfsTer18", "hgvsWellDefined": "ENSP00000349297.5:p.[Val109_Glu115delinsGlyGlyAlaCys;Asn117_Asp118del;Ala120_Ala124delinsPhe;Glu126_Val128delinsArgGlySer;Glu130_Trp133delinsArgSerArg;Gly135_Lys137del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS748851", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356839.10:c.316_325dup" }, "RefSeq": { "hgvs": "NM_000018.4:c.316_325dup" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000349297.5:p.Val109GlyfsTer18" }, "RefSeq": { "hgvs": "NP_000009.1:p.Val109GlyfsTer18" } } } }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 541, "referenceAllele": "", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "ENST00000322910.9:c.*271_*280dup" ], "proteinEffect": { "hgvs": "ENSP00000325395.5:n.*271_*280dup" }, "referenceSequence": "http://reg.genome.network/refseq/RS258139" }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 381, "referenceAllele": "", "start": 381 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "ENST00000350303.9:c.250_259dup" ], "proteinEffect": { "hgvs": "ENSP00000344152.5:p.Val87GlyfsTer18", "hgvsWellDefined": "ENSP00000344152.5:p.[Val87_Glu93delinsGlyGlyAlaCys;Asn95_Asp96del;Ala98_Ala102delinsPhe;Glu104_Val106delinsArgGlySer;Glu108_Trp111delinsArgSerArg;Gly113_Lys115del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS262675" }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 504, "referenceAllele": "", "start": 504 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "ENST00000356839.9:c.316_325dup" ], "proteinEffect": { "hgvs": "ENSP00000349297.5:p.Val109GlyfsTer18", "hgvsWellDefined": "ENSP00000349297.5:p.[Val109_Glu115delinsGlyGlyAlaCys;Asn117_Asp118del;Ala120_Ala124delinsPhe;Glu126_Val128delinsArgGlySer;Glu130_Trp133delinsArgSerArg;Gly135_Lys137del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS263893" }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 415, "referenceAllele": "", "start": 415 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "ENST00000543245.6:c.385_394dup" ], "proteinEffect": { "hgvs": "ENSP00000438689.2:p.Val132GlyfsTer18", "hgvsWellDefined": "ENSP00000438689.2:p.[Val132_Glu138delinsGlyGlyAlaCys;Asn140_Asp141del;Ala143_Ala147delinsPhe;Glu149_Val151delinsArgGlySer;Glu153_Trp156delinsArgSerArg;Gly158_Lys160del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS363908" }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 402, "referenceAllele": "", "start": 402 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "ENST00000577191.5:n.393_402dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS384749" }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 533, "referenceAllele": "", "start": 533 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "ENST00000577433.5:n.524_533dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS384862" }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 276, "referenceAllele": "", "start": 276 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "ENST00000577857.5:n.267_276dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS385072" }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 506, "referenceAllele": "", "start": 506 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "ENST00000579286.5:n.497_506dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS385769" }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 238, "endIntronDirection": "-", "endIntronOffset": 131, "referenceAllele": "", "start": 238, "startIntronDirection": "-", "startIntronOffset": 131 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "ENST00000579886.2:c.202-141_202-132dup" ], "proteinEffect": { "hgvs": "ENSP00000463246.1:n.202-141_202-132dup" }, "referenceSequence": "http://reg.genome.network/refseq/RS386052" }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 56, "referenceAllele": "", "start": 56 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "ENST00000580365.1:n.47_56dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS386296" }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 24, "referenceAllele": "", "start": 24 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "ENST00000581378.5:c.15_24dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS386757" }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 372, "referenceAllele": "", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "ENST00000581562.5:n.363_372dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS386851" }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 415, "referenceAllele": "", "start": 415 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "ENST00000582056.5:n.406_415dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS387086" }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 213, "referenceAllele": "", "start": 213 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "ENST00000582166.1:n.204_213dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS387137" }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 524, "referenceAllele": "", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "ENST00000582356.5:n.515_524dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS387231" }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 450, "referenceAllele": "", "start": 450 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "ENST00000583312.5:c.316_325dup" ], "proteinEffect": { "hgvs": "ENSP00000467920.1:p.Val109GlyfsTer18", "hgvsWellDefined": "ENSP00000467920.1:p.[Val109_Glu115delinsGlyGlyAlaCys;Asn117_Asp118del;Ala120_Ala124delinsPhe;Glu126_Val128delinsArgGlySer;Glu130_Trp133delinsArgSerArg;Gly135_Lys137del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS387693" }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 407, "referenceAllele": "", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "ENST00000584103.5:c.316_325dup" ], "proteinEffect": { "hgvs": "ENSP00000465353.1:p.Val109GlyfsTer29", "hgvsWellDefined": "ENSP00000465353.1:p.[Val109_Leu123delinsGlyGlyAlaCysValProPheLeuArgGlyAlaTrpMetTrpAsp;Gln125_Glu126del;Asn128_Asp129delinsProSer;Ala131_Met138delinsGlySerGluArgSerArgGlnGlu]" }, "referenceSequence": "http://reg.genome.network/refseq/RS388066" }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 479, "referenceAllele": "", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_000018.3:c.316_325dup" ], "proteinEffect": { "hgvs": "NP_000009.1:p.Val109GlyfsTer18", "hgvsWellDefined": "NP_000009.1:p.[Val109_Glu115delinsGlyGlyAlaCys;Asn117_Asp118del;Ala120_Ala124delinsPhe;Glu126_Val128delinsArgGlySer;Glu130_Trp133delinsArgSerArg;Gly135_Lys137del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS006083" }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 413, "referenceAllele": "", "start": 413 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_001033859.2:c.250_259dup" ], "proteinEffect": { "hgvs": "NP_001029031.1:p.Val87GlyfsTer18", "hgvsWellDefined": "NP_001029031.1:p.[Val87_Glu93delinsGlyGlyAlaCys;Asn95_Asp96del;Ala98_Ala102delinsPhe;Glu104_Val106delinsArgGlySer;Glu108_Trp111delinsArgSerArg;Gly113_Lys115del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS009170" }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 415, "referenceAllele": "", "start": 415 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_001270447.1:c.385_394dup" ], "proteinEffect": { "hgvs": "NP_001257376.1:p.Val132GlyfsTer18", "hgvsWellDefined": "NP_001257376.1:p.[Val132_Glu138delinsGlyGlyAlaCys;Asn140_Asp141del;Ala143_Ala147delinsPhe;Glu149_Val151delinsArgGlySer;Glu153_Trp156delinsArgSerArg;Gly158_Lys160del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS020295" }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 554, "referenceAllele": "", "start": 554 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_001270448.1:c.88_97dup" ], "proteinEffect": { "hgvs": "NP_001257377.1:p.Val33GlyfsTer18", "hgvsWellDefined": "NP_001257377.1:p.[Val33_Glu39delinsGlyGlyAlaCys;Asn41_Asp42del;Ala44_Ala48delinsPhe;Glu50_Val52delinsArgGlySer;Glu54_Trp57delinsArgSerArg;Gly59_Lys61del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS020296" }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 432, "referenceAllele": "", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_006721516.2:c.316_325dup" ], "proteinEffect": { "hgvs": "XP_006721579.2:p.Val109GlyfsTer18", "hgvsWellDefined": "XP_006721579.2:p.[Val109_Glu115delinsGlyGlyAlaCys;Asn117_Asp118del;Ala120_Ala124delinsPhe;Glu126_Val128delinsArgGlySer;Glu130_Trp133delinsArgSerArg;Gly135_Lys137del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS074100" }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 432, "referenceAllele": "", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_011523829.1:c.316_325dup" ], "proteinEffect": { "hgvs": "XP_011522131.1:p.Val109GlyfsTer18", "hgvsWellDefined": "XP_011522131.1:p.[Val109_Glu115delinsGlyGlyAlaCys;Asn117_Asp118del;Ala120_Ala124delinsPhe;Glu126_Val128delinsArgGlySer;Glu130_Trp133delinsArgSerArg;Gly135_Lys137del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS090962" }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 432, "referenceAllele": "", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_011523830.1:c.316_325dup" ], "proteinEffect": { "hgvs": "XP_011522132.1:p.Val109GlyfsTer18", "hgvsWellDefined": "XP_011522132.1:p.[Val109_Glu115delinsGlyGlyAlaCys;Asn117_Asp118del;Ala120_Ala124delinsPhe;Glu126_Val128delinsArgGlySer;Glu130_Trp133delinsArgSerArg;Gly135_Lys137del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS090963" }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 432, "referenceAllele": "", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XR_934021.1:n.423_432dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS129466" }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 432, "referenceAllele": "", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XR_934022.1:n.423_432dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS129467" }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 432, "referenceAllele": "", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XR_934023.1:n.423_432dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS129468" }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 384, "referenceAllele": "", "start": 384 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_006721516.3:c.316_325dup" ], "proteinEffect": { "hgvs": "XP_006721579.2:p.Val109GlyfsTer18", "hgvsWellDefined": "XP_006721579.2:p.[Val109_Glu115delinsGlyGlyAlaCys;Asn117_Asp118del;Ala120_Ala124delinsPhe;Glu126_Val128delinsArgGlySer;Glu130_Trp133delinsArgSerArg;Gly135_Lys137del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS540308" }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 384, "referenceAllele": "", "start": 384 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_011523829.2:c.316_325dup" ], "proteinEffect": { "hgvs": "XP_011522131.1:p.Val109GlyfsTer18", "hgvsWellDefined": "XP_011522131.1:p.[Val109_Glu115delinsGlyGlyAlaCys;Asn117_Asp118del;Ala120_Ala124delinsPhe;Glu126_Val128delinsArgGlySer;Glu130_Trp133delinsArgSerArg;Gly135_Lys137del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS547194" }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 384, "referenceAllele": "", "start": 384 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_011523830.2:c.316_325dup" ], "proteinEffect": { "hgvs": "XP_011522132.1:p.Val109GlyfsTer18", "hgvsWellDefined": "XP_011522132.1:p.[Val109_Glu115delinsGlyGlyAlaCys;Asn117_Asp118del;Ala120_Ala124delinsPhe;Glu126_Val128delinsArgGlySer;Glu130_Trp133delinsArgSerArg;Gly135_Lys137del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS547195" }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 384, "referenceAllele": "", "start": 384 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XM_024450741.1:c.316_325dup" ], "proteinEffect": { "hgvs": "XP_024306509.1:p.Val109GlyfsTer18", "hgvsWellDefined": "XP_024306509.1:p.[Val109_Glu115delinsGlyGlyAlaCys;Asn117_Asp118del;Ala120_Ala124delinsPhe;Glu126_Val128delinsArgGlySer;Glu130_Trp133delinsArgSerArg;Gly135_Lys137del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS584272" }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 384, "referenceAllele": "", "start": 384 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XR_934021.2:n.375_384dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS610564" }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 384, "referenceAllele": "", "start": 384 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XR_934022.2:n.375_384dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS610565" }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 384, "referenceAllele": "", "start": 384 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "XR_934023.2:n.375_384dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS610566" }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 372, "referenceAllele": "", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_000018.4:c.316_325dup" ], "proteinEffect": { "hgvs": "NP_000009.1:p.Val109GlyfsTer18", "hgvsWellDefined": "NP_000009.1:p.[Val109_Glu115delinsGlyGlyAlaCys;Asn117_Asp118del;Ala120_Ala124delinsPhe;Glu126_Val128delinsArgGlySer;Glu130_Trp133delinsArgSerArg;Gly135_Lys137del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS662284", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356839.10:c.316_325dup" }, "RefSeq": { "hgvs": "NM_000018.4:c.316_325dup" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000349297.5:p.Val109GlyfsTer18" }, "RefSeq": { "hgvs": "NP_000009.1:p.Val109GlyfsTer18" } } } }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 306, "referenceAllele": "", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_001033859.3:c.250_259dup" ], "proteinEffect": { "hgvs": "NP_001029031.1:p.Val87GlyfsTer18", "hgvsWellDefined": "NP_001029031.1:p.[Val87_Glu93delinsGlyGlyAlaCys;Asn95_Asp96del;Ala98_Ala102delinsPhe;Glu104_Val106delinsArgGlySer;Glu108_Trp111delinsArgSerArg;Gly113_Lys115del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS711542" }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 415, "referenceAllele": "", "start": 415 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_001270447.2:c.385_394dup" ], "proteinEffect": { "hgvs": "NP_001257376.1:p.Val132GlyfsTer18", "hgvsWellDefined": "NP_001257376.1:p.[Val132_Glu138delinsGlyGlyAlaCys;Asn140_Asp141del;Ala143_Ala147delinsPhe;Glu149_Val151delinsArgGlySer;Glu153_Trp156delinsArgSerArg;Gly158_Lys160del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS715163" }, { "coordinates": [ { "allele": "GTGGAGCCTG", "end": 447, "referenceAllele": "", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN000092", "geneNCBI_id": 37, "geneSymbol": "ACADVL", "hgvs": [ "NM_001270448.2:c.88_97dup" ], "proteinEffect": { "hgvs": "NP_001257377.1:p.Val33GlyfsTer18", "hgvsWellDefined": "NP_001257377.1:p.[Val33_Glu39delinsGlyGlyAlaCys;Asn41_Asp42del;Ala44_Ala48delinsPhe;Glu50_Val52delinsArgGlySer;Glu54_Trp57delinsArgSerArg;Gly59_Lys61del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS715164" } ], "type": "nucleotide" }