Canonical Allele Identifier: CA2245716269

Gene: ACADVL

Linked Data

• dbSNP Id: rs2071411902

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225014dup , CM000679.2:g.7225014dup	GRCh38
NC_000017.10:g.7128333dup , CM000679.1:g.7128333dup	GRCh37
NC_000017.9:g.7069057dup	NCBI36
NG_007975.1:g.10181dup
NG_008391.2:g.37dup
NG_033038.1:g.14531dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1885dup MANE Select	ENSP00000349297.5:p.Glu629GlyfsTer?
ENST00000322910.9:c.*1840dup	ENSP00000325395.5:n.*1840dup
ENST00000350303.9:c.1819dup	ENSP00000344152.5:p.Glu607GlyfsTer?
ENST00000356839.9:c.1885dup	ENSP00000349297.5:p.Glu629GlyfsTer?
ENST00000542255.6:c.764dup
ENST00000543245.6:c.1954dup	ENSP00000438689.2:p.Glu652GlyfsTer?
ENST00000578033.1:n.310dup
ENST00000578319.5:n.466dup
ENST00000578711.1:n.1510dup
ENST00000578809.5:n.457dup
ENST00000579425.5:n.1001dup
ENST00000583848.5:c.251dup	ENSP00000466487.1:n.251dup
ENST00000583850.5:n.656dup
ENST00000583858.5:c.816dup
NM_000018.3:c.1885dup	NP_000009.1:p.Glu629GlyfsTer?
NM_001033859.2:c.1819dup	NP_001029031.1:p.Glu607GlyfsTer?
NM_001270447.1:c.1954dup	NP_001257376.1:p.Glu652GlyfsTer?
NM_001270448.1:c.1657dup	NP_001257377.1:p.Glu553GlyfsTer?
XM_006721516.2:c.1906dup	XP_006721579.2:p.Glu636GlyfsTer?
XM_011523829.1:c.1804dup	XP_011522131.1:p.Glu602GlyfsTer?
XM_011523830.1:c.1783dup	XP_011522132.1:p.Glu595GlyfsTer?
XR_934021.1:n.1988dup
XR_934022.1:n.1894dup
XR_934023.1:n.1915dup
XM_006721516.3:c.1906dup	XP_006721579.2:p.Glu636GlyfsTer?
XM_011523829.2:c.1804dup	XP_011522131.1:p.Glu602GlyfsTer?
XM_011523830.2:c.1783dup	XP_011522132.1:p.Glu595GlyfsTer?
XM_024450741.1:c.1873dup	XP_024306509.1:p.Glu625GlyfsTer?
XR_934021.2:n.1940dup
XR_934022.2:n.1846dup
XR_934023.2:n.1867dup
NM_000018.4:c.1885dup MANE Select	NP_000009.1:p.Glu629GlyfsTer?
NM_001033859.3:c.1819dup	NP_001029031.1:p.Glu607GlyfsTer?
NM_001270447.2:c.1954dup	NP_001257376.1:p.Glu652GlyfsTer?
NM_001270448.2:c.1657dup	NP_001257377.1:p.Glu553GlyfsTer?