Canonical Allele Identifier: CA913013651

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128355dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225036dup , CM000679.2:g.7225036dup	GRCh38
NC_000017.10:g.7128355dup , CM000679.1:g.7128355dup	GRCh37
NC_000017.9:g.7069079dup	NCBI36
NG_007975.1:g.10203dup
NG_008391.2:g.15dup
NG_033038.1:g.14509dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1907dup MANE Select	ENSP00000349297.5:p.Ser636ArgfsTer?
ENST00000322910.9:c.*1862dup	ENSP00000325395.5:n.*1862dup
ENST00000350303.9:c.1841dup	ENSP00000344152.5:p.Ser614ArgfsTer?
ENST00000356839.9:c.1907dup	ENSP00000349297.5:p.Ser636ArgfsTer?
ENST00000542255.6:c.786dup
ENST00000543245.6:c.1976dup	ENSP00000438689.2:p.Ser659ArgfsTer?
ENST00000578033.1:n.332dup
ENST00000578319.5:n.488dup
ENST00000578711.1:n.1532dup
ENST00000578809.5:n.479dup
ENST00000579425.5:n.1023dup
ENST00000583848.5:c.273dup	ENSP00000466487.1:n.273dup
ENST00000583850.5:n.678dup
ENST00000583858.5:c.838dup
NM_000018.3:c.1907dup	NP_000009.1:p.Ser636ArgfsTer?
NM_001033859.2:c.1841dup	NP_001029031.1:p.Ser614ArgfsTer?
NM_001270447.1:c.1976dup	NP_001257376.1:p.Ser659ArgfsTer?
NM_001270448.1:c.1679dup	NP_001257377.1:p.Ser560ArgfsTer?
XM_006721516.2:c.1928dup	XP_006721579.2:p.Ser643ArgfsTer?
XM_011523829.1:c.1826dup	XP_011522131.1:p.Ser609ArgfsTer?
XM_011523830.1:c.1805dup	XP_011522132.1:p.Ser602ArgfsTer?
XR_934021.1:n.2010dup
XR_934022.1:n.1916dup
XR_934023.1:n.1937dup
XM_006721516.3:c.1928dup	XP_006721579.2:p.Ser643ArgfsTer?
XM_011523829.2:c.1826dup	XP_011522131.1:p.Ser609ArgfsTer?
XM_011523830.2:c.1805dup	XP_011522132.1:p.Ser602ArgfsTer?
XM_024450741.1:c.1895dup	XP_024306509.1:p.Ser632ArgfsTer?
XR_934021.2:n.1962dup
XR_934022.2:n.1868dup
XR_934023.2:n.1889dup
NM_000018.4:c.1907dup MANE Select	NP_000009.1:p.Ser636ArgfsTer?
NM_001033859.3:c.1841dup	NP_001029031.1:p.Ser614ArgfsTer?
NM_001270447.2:c.1976dup	NP_001257376.1:p.Ser659ArgfsTer?
NM_001270448.2:c.1679dup	NP_001257377.1:p.Ser560ArgfsTer?