Canonical Allele Identifier: CA2580094802

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1946069
• ClinVar RCV Id: RCV002667539

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224012del , CM000679.2:g.7224012del	GRCh38
NC_000017.10:g.7127331del , CM000679.1:g.7127331del	GRCh37
NC_000017.9:g.7068055del	NCBI36
NG_007975.1:g.9179del
NG_008391.2:g.1040del
NG_033038.1:g.15534del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1377del MANE Select	ENSP00000349297.5:p.Ile460SerfsTer?
ENST00000322910.9:c.*1332del	ENSP00000325395.5:n.*1332del
ENST00000350303.9:c.1311del	ENSP00000344152.5:p.Ile438SerfsTer?
ENST00000356839.9:c.1377del	ENSP00000349297.5:p.Ile460SerfsTer?
ENST00000542255.6:c.235del
ENST00000543245.6:c.1446del	ENSP00000438689.2:p.Ile483SerfsTer?
ENST00000578711.1:n.508del
ENST00000579425.5:n.493del
ENST00000579546.1:c.214del
ENST00000579894.5:n.88del
ENST00000583074.5:n.96del
ENST00000583850.5:n.152del
ENST00000583858.5:c.406del
ENST00000585203.6:n.568del
NM_000018.3:c.1377del	NP_000009.1:p.Ile460SerfsTer?
NM_001033859.2:c.1311del	NP_001029031.1:p.Ile438SerfsTer?
NM_001270447.1:c.1446del	NP_001257376.1:p.Ile483SerfsTer?
NM_001270448.1:c.1149del	NP_001257377.1:p.Ile384SerfsTer?
XM_006721516.2:c.1377del	XP_006721579.2:p.Ile460SerfsTer?
XM_011523829.1:c.1377del	XP_011522131.1:p.Ile460SerfsTer?
XM_011523830.1:c.1377del	XP_011522132.1:p.Ile460SerfsTer?
XR_934021.1:n.1484del
XR_934022.1:n.1484del
XR_934023.1:n.1484del
XM_006721516.3:c.1377del	XP_006721579.2:p.Ile460SerfsTer?
XM_011523829.2:c.1377del	XP_011522131.1:p.Ile460SerfsTer?
XM_011523830.2:c.1377del	XP_011522132.1:p.Ile460SerfsTer?
XM_024450741.1:c.1377del	XP_024306509.1:p.Ile460SerfsTer?
XR_934021.2:n.1436del
XR_934022.2:n.1436del
XR_934023.2:n.1436del
NM_000018.4:c.1377del MANE Select	NP_000009.1:p.Ile460SerfsTer?
NM_001033859.3:c.1311del	NP_001029031.1:p.Ile438SerfsTer?
NM_001270447.2:c.1446del	NP_001257376.1:p.Ile483SerfsTer?
NM_001270448.2:c.1149del	NP_001257377.1:p.Ile384SerfsTer?