Canonical Allele Identifier: CA2841827511

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222185dup , CM000679.2:g.7222185dup	GRCh38
NC_000017.10:g.7125504dup , CM000679.1:g.7125504dup	GRCh37
NC_000017.9:g.7066228dup	NCBI36
NG_007975.1:g.7352dup
NG_008391.2:g.2870dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.761dup MANE Select	ENSP00000349297.5:p.Leu255ProfsTer?
ENST00000322910.9:c.*716dup	ENSP00000325395.5:n.*716dup
ENST00000350303.9:c.695dup	ENSP00000344152.5:p.Leu233ProfsTer?
ENST00000356839.9:c.761dup	ENSP00000349297.5:p.Leu255ProfsTer?
ENST00000543245.6:c.830dup	ENSP00000438689.2:p.Leu278ProfsTer?
ENST00000577191.5:n.933dup
ENST00000581378.5:c.479dup
ENST00000582379.1:n.145dup
NM_000018.3:c.761dup	NP_000009.1:p.Leu255ProfsTer?
NM_001033859.2:c.695dup	NP_001029031.1:p.Leu233ProfsTer?
NM_001270447.1:c.830dup	NP_001257376.1:p.Leu278ProfsTer?
NM_001270448.1:c.533dup	NP_001257377.1:p.Leu179ProfsTer?
XM_006721516.2:c.761dup	XP_006721579.2:p.Leu255ProfsTer?
XM_011523829.1:c.761dup	XP_011522131.1:p.Leu255ProfsTer?
XM_011523830.1:c.761dup	XP_011522132.1:p.Leu255ProfsTer?
XR_934021.1:n.868dup
XR_934022.1:n.868dup
XR_934023.1:n.868dup
XM_006721516.3:c.761dup	XP_006721579.2:p.Leu255ProfsTer?
XM_011523829.2:c.761dup	XP_011522131.1:p.Leu255ProfsTer?
XM_011523830.2:c.761dup	XP_011522132.1:p.Leu255ProfsTer?
XM_024450741.1:c.761dup	XP_024306509.1:p.Leu255ProfsTer?
XR_934021.2:n.820dup
XR_934022.2:n.820dup
XR_934023.2:n.820dup
NM_000018.4:c.761dup MANE Select	NP_000009.1:p.Leu255ProfsTer?
NM_001033859.3:c.695dup	NP_001029031.1:p.Leu233ProfsTer?
NM_001270447.2:c.830dup	NP_001257376.1:p.Leu278ProfsTer?
NM_001270448.2:c.533dup	NP_001257377.1:p.Leu179ProfsTer?