Canonical Allele Identifier: CA2580094775

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1726450
• ClinVar RCV Id: RCV002310134

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222861del , CM000679.2:g.7222861del	GRCh38
NC_000017.10:g.7126180del , CM000679.1:g.7126180del	GRCh37
NC_000017.9:g.7066904del	NCBI36
NG_007975.1:g.8028del
NG_008391.2:g.2191del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1073del MANE Select	ENSP00000349297.5:p.Lys358ArgfsTer3
ENST00000322910.9:c.*1028del	ENSP00000325395.5:n.*1028del
ENST00000350303.9:c.1007del	ENSP00000344152.5:p.Lys336ArgfsTer3
ENST00000356839.9:c.1073del	ENSP00000349297.5:p.Lys358ArgfsTer3
ENST00000543245.6:c.1142del	ENSP00000438689.2:p.Lys381ArgfsTer3
ENST00000578824.5:n.222del
ENST00000582379.1:n.457del
ENST00000583858.5:c.102del
ENST00000585203.6:n.14del
NM_000018.3:c.1073del	NP_000009.1:p.Lys358ArgfsTer3
NM_001033859.2:c.1007del	NP_001029031.1:p.Lys336ArgfsTer3
NM_001270447.1:c.1142del	NP_001257376.1:p.Lys381ArgfsTer3
NM_001270448.1:c.845del	NP_001257377.1:p.Lys282ArgfsTer3
XM_006721516.2:c.1073del	XP_006721579.2:p.Lys358ArgfsTer3
XM_011523829.1:c.1073del	XP_011522131.1:p.Lys358ArgfsTer3
XM_011523830.1:c.1073del	XP_011522132.1:p.Lys358ArgfsTer3
XR_934021.1:n.1180del
XR_934022.1:n.1180del
XR_934023.1:n.1180del
XM_006721516.3:c.1073del	XP_006721579.2:p.Lys358ArgfsTer3
XM_011523829.2:c.1073del	XP_011522131.1:p.Lys358ArgfsTer3
XM_011523830.2:c.1073del	XP_011522132.1:p.Lys358ArgfsTer3
XM_024450741.1:c.1073del	XP_024306509.1:p.Lys358ArgfsTer3
XR_934021.2:n.1132del
XR_934022.2:n.1132del
XR_934023.2:n.1132del
NM_000018.4:c.1073del MANE Select	NP_000009.1:p.Lys358ArgfsTer3
NM_001033859.3:c.1007del	NP_001029031.1:p.Lys336ArgfsTer3
NM_001270447.2:c.1142del	NP_001257376.1:p.Lys381ArgfsTer3
NM_001270448.2:c.845del	NP_001257377.1:p.Lys282ArgfsTer3