Canonical Allele Identifier: CA2245709168

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222674_7222676delinsCCT , CM000679.2:g.7222674_7222676delinsCCT	GRCh38
NC_000017.10:g.7125993_7125995delinsCCT , CM000679.1:g.7125993_7125995delinsCCT	GRCh37
NC_000017.9:g.7066717_7066719delinsCCT	NCBI36
NG_007975.1:g.7841_7843delinsCCT
NG_008391.2:g.2375_2377delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.886_888delinsCCT MANE Select	ENSP00000349297.5:p.Pro296=
ENST00000322910.9:c.*841_*843delinsCCT	ENSP00000325395.5:n.*841_*843delinsCCT
ENST00000350303.9:c.820_822delinsCCT	ENSP00000344152.5:p.Pro274=
ENST00000356839.9:c.886_888delinsCCT	ENSP00000349297.5:p.Pro296=
ENST00000543245.6:c.955_957delinsCCT	ENSP00000438689.2:p.Pro319=
ENST00000578824.5:n.35_37delinsCCT
ENST00000581378.5:c.604_606delinsCCT
ENST00000582379.1:n.270_272delinsCCT
NM_000018.3:c.886_888delinsCCT	NP_000009.1:p.Pro296=
NM_001033859.2:c.820_822delinsCCT	NP_001029031.1:p.Pro274=
NM_001270447.1:c.955_957delinsCCT	NP_001257376.1:p.Pro319=
NM_001270448.1:c.658_660delinsCCT	NP_001257377.1:p.Pro220=
XM_006721516.2:c.886_888delinsCCT	XP_006721579.2:p.Pro296=
XM_011523829.1:c.886_888delinsCCT	XP_011522131.1:p.Pro296=
XM_011523830.1:c.886_888delinsCCT	XP_011522132.1:p.Pro296=
XR_934021.1:n.993_995delinsCCT
XR_934022.1:n.993_995delinsCCT
XR_934023.1:n.993_995delinsCCT
XM_006721516.3:c.886_888delinsCCT	XP_006721579.2:p.Pro296=
XM_011523829.2:c.886_888delinsCCT	XP_011522131.1:p.Pro296=
XM_011523830.2:c.886_888delinsCCT	XP_011522132.1:p.Pro296=
XM_024450741.1:c.886_888delinsCCT	XP_024306509.1:p.Pro296=
XR_934021.2:n.945_947delinsCCT
XR_934022.2:n.945_947delinsCCT
XR_934023.2:n.945_947delinsCCT
NM_000018.4:c.886_888delinsCCT MANE Select	NP_000009.1:p.Pro296=
NM_001033859.3:c.820_822delinsCCT	NP_001029031.1:p.Pro274=
NM_001270447.2:c.955_957delinsCCT	NP_001257376.1:p.Pro319=
NM_001270448.2:c.658_660delinsCCT	NP_001257377.1:p.Pro220=