Canonical Allele Identifier: CA2740090939

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 3002821
• ClinVar RCV Id: RCV003860412

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222045_7222046del , CM000679.2:g.7222045_7222046del	GRCh38
NC_000017.10:g.7125364_7125365del , CM000679.1:g.7125364_7125365del	GRCh37
NC_000017.9:g.7066088_7066089del	NCBI36
NG_007975.1:g.7212_7213del
NG_008391.2:g.3007_3008del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.716_717del MANE Select	ENSP00000349297.5:p.Lys239IlefsTer13
ENST00000322910.9:c.*671_*672del	ENSP00000325395.5:n.*671_*672del
ENST00000350303.9:c.650_651del	ENSP00000344152.5:p.Lys217IlefsTer13
ENST00000356839.9:c.716_717del	ENSP00000349297.5:p.Lys239IlefsTer13
ENST00000543245.6:c.785_786del	ENSP00000438689.2:p.Lys262IlefsTer13
ENST00000577191.5:n.793_794del
ENST00000577857.5:n.532_533del
ENST00000579286.5:n.897_898del
ENST00000580365.1:n.447_448del
ENST00000581378.5:c.434_435del
ENST00000582379.1:n.100_101del
ENST00000583760.1:n.498_499del
NM_000018.3:c.716_717del	NP_000009.1:p.Lys239IlefsTer13
NM_001033859.2:c.650_651del	NP_001029031.1:p.Lys217IlefsTer13
NM_001270447.1:c.785_786del	NP_001257376.1:p.Lys262IlefsTer13
NM_001270448.1:c.488_489del	NP_001257377.1:p.Lys163IlefsTer13
XM_006721516.2:c.716_717del	XP_006721579.2:p.Lys239IlefsTer13
XM_011523829.1:c.716_717del	XP_011522131.1:p.Lys239IlefsTer13
XM_011523830.1:c.716_717del	XP_011522132.1:p.Lys239IlefsTer13
XR_934021.1:n.823_824del
XR_934022.1:n.823_824del
XR_934023.1:n.823_824del
XM_006721516.3:c.716_717del	XP_006721579.2:p.Lys239IlefsTer13
XM_011523829.2:c.716_717del	XP_011522131.1:p.Lys239IlefsTer13
XM_011523830.2:c.716_717del	XP_011522132.1:p.Lys239IlefsTer13
XM_024450741.1:c.716_717del	XP_024306509.1:p.Lys239IlefsTer13
XR_934021.2:n.775_776del
XR_934022.2:n.775_776del
XR_934023.2:n.775_776del
NM_000018.4:c.716_717del MANE Select	NP_000009.1:p.Lys239IlefsTer13
NM_001033859.3:c.650_651del	NP_001029031.1:p.Lys217IlefsTer13
NM_001270447.2:c.785_786del	NP_001257376.1:p.Lys262IlefsTer13
NM_001270448.2:c.488_489del	NP_001257377.1:p.Lys163IlefsTer13