Canonical Allele Identifier: CA2808366077

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222674_7222675dup , CM000679.2:g.7222674_7222675dup	GRCh38
NC_000017.10:g.7125993_7125994dup , CM000679.1:g.7125993_7125994dup	GRCh37
NC_000017.9:g.7066717_7066718dup	NCBI36
NG_007975.1:g.7841_7842dup
NG_008391.2:g.2379_2380dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.886_887dup MANE Select	ENSP00000349297.5:p.Glu297LeufsTer?
ENST00000322910.9:c.*841_*842dup	ENSP00000325395.5:n.*841_*842dup
ENST00000350303.9:c.820_821dup	ENSP00000344152.5:p.Glu275LeufsTer?
ENST00000356839.9:c.886_887dup	ENSP00000349297.5:p.Glu297LeufsTer?
ENST00000543245.6:c.955_956dup	ENSP00000438689.2:p.Glu320LeufsTer?
ENST00000578824.5:n.35_36dup
ENST00000581378.5:c.604_605dup
ENST00000582379.1:n.270_271dup
NM_000018.3:c.886_887dup	NP_000009.1:p.Glu297LeufsTer?
NM_001033859.2:c.820_821dup	NP_001029031.1:p.Glu275LeufsTer?
NM_001270447.1:c.955_956dup	NP_001257376.1:p.Glu320LeufsTer?
NM_001270448.1:c.658_659dup	NP_001257377.1:p.Glu221LeufsTer?
XM_006721516.2:c.886_887dup	XP_006721579.2:p.Glu297LeufsTer?
XM_011523829.1:c.886_887dup	XP_011522131.1:p.Glu297LeufsTer?
XM_011523830.1:c.886_887dup	XP_011522132.1:p.Glu297LeufsTer?
XR_934021.1:n.993_994dup
XR_934022.1:n.993_994dup
XR_934023.1:n.993_994dup
XM_006721516.3:c.886_887dup	XP_006721579.2:p.Glu297LeufsTer?
XM_011523829.2:c.886_887dup	XP_011522131.1:p.Glu297LeufsTer?
XM_011523830.2:c.886_887dup	XP_011522132.1:p.Glu297LeufsTer?
XM_024450741.1:c.886_887dup	XP_024306509.1:p.Glu297LeufsTer?
XR_934021.2:n.945_946dup
XR_934022.2:n.945_946dup
XR_934023.2:n.945_946dup
NM_000018.4:c.886_887dup MANE Select	NP_000009.1:p.Glu297LeufsTer?
NM_001033859.3:c.820_821dup	NP_001029031.1:p.Glu275LeufsTer?
NM_001270447.2:c.955_956dup	NP_001257376.1:p.Glu320LeufsTer?
NM_001270448.2:c.658_659dup	NP_001257377.1:p.Glu221LeufsTer?