Canonical Allele Identifier: CA2245709171

Gene: ACADVL

Linked Data

• dbSNP Id: rs1755813972

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222675_7222676dup , CM000679.2:g.7222675_7222676dup	GRCh38
NC_000017.10:g.7125994_7125995dup , CM000679.1:g.7125994_7125995dup	GRCh37
NC_000017.9:g.7066718_7066719dup	NCBI36
NG_007975.1:g.7842_7843dup
NG_008391.2:g.2375_2376dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.887_888dup MANE Select	ENSP00000349297.5:p.Glu297LeufsTer?
ENST00000322910.9:c.*842_*843dup	ENSP00000325395.5:n.*842_*843dup
ENST00000350303.9:c.821_822dup	ENSP00000344152.5:p.Glu275LeufsTer?
ENST00000356839.9:c.887_888dup	ENSP00000349297.5:p.Glu297LeufsTer?
ENST00000543245.6:c.956_957dup	ENSP00000438689.2:p.Glu320LeufsTer?
ENST00000578824.5:n.36_37dup
ENST00000581378.5:c.605_606dup
ENST00000582379.1:n.271_272dup
NM_000018.3:c.887_888dup	NP_000009.1:p.Glu297LeufsTer?
NM_001033859.2:c.821_822dup	NP_001029031.1:p.Glu275LeufsTer?
NM_001270447.1:c.956_957dup	NP_001257376.1:p.Glu320LeufsTer?
NM_001270448.1:c.659_660dup	NP_001257377.1:p.Glu221LeufsTer?
XM_006721516.2:c.887_888dup	XP_006721579.2:p.Glu297LeufsTer?
XM_011523829.1:c.887_888dup	XP_011522131.1:p.Glu297LeufsTer?
XM_011523830.1:c.887_888dup	XP_011522132.1:p.Glu297LeufsTer?
XR_934021.1:n.994_995dup
XR_934022.1:n.994_995dup
XR_934023.1:n.994_995dup
XM_006721516.3:c.887_888dup	XP_006721579.2:p.Glu297LeufsTer?
XM_011523829.2:c.887_888dup	XP_011522131.1:p.Glu297LeufsTer?
XM_011523830.2:c.887_888dup	XP_011522132.1:p.Glu297LeufsTer?
XM_024450741.1:c.887_888dup	XP_024306509.1:p.Glu297LeufsTer?
XR_934021.2:n.946_947dup
XR_934022.2:n.946_947dup
XR_934023.2:n.946_947dup
NM_000018.4:c.887_888dup MANE Select	NP_000009.1:p.Glu297LeufsTer?
NM_001033859.3:c.821_822dup	NP_001029031.1:p.Glu275LeufsTer?
NM_001270447.2:c.956_957dup	NP_001257376.1:p.Glu320LeufsTer?
NM_001270448.2:c.659_660dup	NP_001257377.1:p.Glu221LeufsTer?