Canonical Allele Identifier: CA2695201235

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2680217
• ClinVar RCV Id: RCV003460227

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224052del , CM000679.2:g.7224052del	GRCh38
NC_000017.10:g.7127371del , CM000679.1:g.7127371del	GRCh37
NC_000017.9:g.7068095del	NCBI36
NG_007975.1:g.9219del
NG_008391.2:g.1000del
NG_033038.1:g.15494del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1417del MANE Select	ENSP00000349297.5:p.Ala473LeufsTer19
ENST00000322910.9:c.*1372del	ENSP00000325395.5:n.*1372del
ENST00000350303.9:c.1351del	ENSP00000344152.5:p.Ala451LeufsTer19
ENST00000356839.9:c.1417del	ENSP00000349297.5:p.Ala473LeufsTer19
ENST00000542255.6:c.275del
ENST00000543245.6:c.1486del	ENSP00000438689.2:p.Ala496LeufsTer19
ENST00000578711.1:n.548del
ENST00000579425.5:n.533del
ENST00000579546.1:c.254del
ENST00000579894.5:n.128del
ENST00000583074.5:n.136del
ENST00000583850.5:n.192del
ENST00000583858.5:c.446del
ENST00000585203.6:n.608del
NM_000018.3:c.1417del	NP_000009.1:p.Ala473LeufsTer19
NM_001033859.2:c.1351del	NP_001029031.1:p.Ala451LeufsTer19
NM_001270447.1:c.1486del	NP_001257376.1:p.Ala496LeufsTer19
NM_001270448.1:c.1189del	NP_001257377.1:p.Ala397LeufsTer19
XM_006721516.2:c.1417del	XP_006721579.2:p.Ala473LeufsTer19
XM_011523829.1:c.1417del	XP_011522131.1:p.Ala473LeufsTer?
XM_011523830.1:c.1417del	XP_011522132.1:p.Ala473LeufsTer?
XR_934021.1:n.1524del
XR_934022.1:n.1524del
XR_934023.1:n.1524del
XM_006721516.3:c.1417del	XP_006721579.2:p.Ala473LeufsTer19
XM_011523829.2:c.1417del	XP_011522131.1:p.Ala473LeufsTer?
XM_011523830.2:c.1417del	XP_011522132.1:p.Ala473LeufsTer?
XM_024450741.1:c.1417del	XP_024306509.1:p.Ala473LeufsTer?
XR_934021.2:n.1476del
XR_934022.2:n.1476del
XR_934023.2:n.1476del
NM_000018.4:c.1417del MANE Select	NP_000009.1:p.Ala473LeufsTer19
NM_001033859.3:c.1351del	NP_001029031.1:p.Ala451LeufsTer19
NM_001270447.2:c.1486del	NP_001257376.1:p.Ala496LeufsTer19
NM_001270448.2:c.1189del	NP_001257377.1:p.Ala397LeufsTer19