Canonical Allele Identifier: CA16041870
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 371449
ClinVar RCV Id: RCV000409783
dbSNP Id: rs1057517281

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223196_7223198del , CM000679.2:g.7223196_7223198del GRCh38
NC_000017.10:g.7126515_7126517del , CM000679.1:g.7126515_7126517del GRCh37
NC_000017.9:g.7067239_7067241del NCBI36
NG_007975.1:g.8363_8365del
NG_008391.2:g.1855_1857del

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1141_1143del MANE Select ENSP00000349297.5:p.Glu381del
ENST00000322910.9:c.*1096_*1098del ENSP00000325395.5:n.*1096_*1098del
ENST00000350303.9:c.1075_1077del ENSP00000344152.5:p.Glu359del
ENST00000356839.9:c.1141_1143del ENSP00000349297.5:p.Glu381del
ENST00000543245.6:c.1210_1212del ENSP00000438689.2:p.Glu404del
ENST00000578579.2:n.90_92del
ENST00000578824.5:n.557_559del
ENST00000579425.5:n.165_167del
ENST00000582379.1:n.792_794del
ENST00000583858.5:c.170_172del
ENST00000585203.6:n.349_351del
NM_000018.3:c.1141_1143del NP_000009.1:p.Glu381del
NM_001033859.2:c.1075_1077del NP_001029031.1:p.Glu359del
NM_001270447.1:c.1210_1212del NP_001257376.1:p.Glu404del
NM_001270448.1:c.913_915del NP_001257377.1:p.Glu305del
XM_006721516.2:c.1141_1143del XP_006721579.2:p.Glu381del
XM_011523829.1:c.1141_1143del XP_011522131.1:p.Glu381del
XM_011523830.1:c.1141_1143del XP_011522132.1:p.Glu381del
XR_934021.1:n.1248_1250del
XR_934022.1:n.1248_1250del
XR_934023.1:n.1248_1250del
XM_006721516.3:c.1141_1143del XP_006721579.2:p.Glu381del
XM_011523829.2:c.1141_1143del XP_011522131.1:p.Glu381del
XM_011523830.2:c.1141_1143del XP_011522132.1:p.Glu381del
XM_024450741.1:c.1141_1143del XP_024306509.1:p.Glu381del
XR_934021.2:n.1200_1202del
XR_934022.2:n.1200_1202del
XR_934023.2:n.1200_1202del
NM_000018.4:c.1141_1143del MANE Select NP_000009.1:p.Glu381del
NM_001033859.3:c.1075_1077del NP_001029031.1:p.Glu359del
NM_001270447.2:c.1210_1212del NP_001257376.1:p.Glu404del
NM_001270448.2:c.913_915del NP_001257377.1:p.Glu305del