Canonical Allele Identifier: CA2695199913
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2680232
ClinVar RCV Id: RCV003474404
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221655_7221658del , CM000679.2:g.7221655_7221658del GRCh38
NC_000017.10:g.7124974_7124977del , CM000679.1:g.7124974_7124977del GRCh37
NC_000017.9:g.7065698_7065701del NCBI36
NG_007975.1:g.6822_6825del
NG_008391.2:g.3398_3401del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.595_598del MANE Select ENSP00000349297.5:p.Glu199AsnfsTer17
ENST00000322910.9:c.*550_*553del ENSP00000325395.5:n.*550_*553del
ENST00000350303.9:c.529_532del ENSP00000344152.5:p.Glu177AsnfsTer17
ENST00000356839.9:c.595_598del ENSP00000349297.5:p.Glu199AsnfsTer17
ENST00000543245.6:c.664_667del ENSP00000438689.2:p.Glu222AsnfsTer17
ENST00000577191.5:n.672_675del
ENST00000577857.5:n.411_414del
ENST00000579286.5:n.776_779del
ENST00000579886.2:c.433_436del ENSP00000463246.1:p.Glu145AsnfsTer?
ENST00000580365.1:n.326_329del
ENST00000581378.5:c.313_316del
ENST00000581562.5:n.525-297_525-294del
ENST00000583312.5:c.595_598del ENSP00000467920.1:p.Glu199AsnfsTer22
ENST00000583760.1:n.377_380del
NM_000018.3:c.595_598del NP_000009.1:p.Glu199AsnfsTer17
NM_001033859.2:c.529_532del NP_001029031.1:p.Glu177AsnfsTer17
NM_001270447.1:c.664_667del NP_001257376.1:p.Glu222AsnfsTer17
NM_001270448.1:c.367_370del NP_001257377.1:p.Glu123AsnfsTer17
XM_006721516.2:c.595_598del XP_006721579.2:p.Glu199AsnfsTer17
XM_011523829.1:c.595_598del XP_011522131.1:p.Glu199AsnfsTer17
XM_011523830.1:c.595_598del XP_011522132.1:p.Glu199AsnfsTer17
XR_934021.1:n.702_705del
XR_934022.1:n.702_705del
XR_934023.1:n.702_705del
XM_006721516.3:c.595_598del XP_006721579.2:p.Glu199AsnfsTer17
XM_011523829.2:c.595_598del XP_011522131.1:p.Glu199AsnfsTer17
XM_011523830.2:c.595_598del XP_011522132.1:p.Glu199AsnfsTer17
XM_024450741.1:c.595_598del XP_024306509.1:p.Glu199AsnfsTer17
XR_934021.2:n.654_657del
XR_934022.2:n.654_657del
XR_934023.2:n.654_657del
NM_000018.4:c.595_598del MANE Select NP_000009.1:p.Glu199AsnfsTer17
NM_001033859.3:c.529_532del NP_001029031.1:p.Glu177AsnfsTer17
NM_001270447.2:c.664_667del NP_001257376.1:p.Glu222AsnfsTer17
NM_001270448.2:c.367_370del NP_001257377.1:p.Glu123AsnfsTer17
Search 100 bp 5'
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