Canonical Allele Identifier: CA2841827550

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224351dup , CM000679.2:g.7224351dup	GRCh38
NC_000017.10:g.7127670dup , CM000679.1:g.7127670dup	GRCh37
NC_000017.9:g.7068394dup	NCBI36
NG_007975.1:g.9518dup
NG_008391.2:g.700dup
NG_033038.1:g.15194dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1563dup MANE Select	ENSP00000349297.5:p.Ser522GlnfsTer?
ENST00000322910.9:c.*1518dup	ENSP00000325395.5:n.*1518dup
ENST00000350303.9:c.1497dup	ENSP00000344152.5:p.Ser500GlnfsTer?
ENST00000356839.9:c.1563dup	ENSP00000349297.5:p.Ser522GlnfsTer?
ENST00000542255.6:c.421dup
ENST00000543245.6:c.1632dup	ENSP00000438689.2:p.Ser545GlnfsTer?
ENST00000578319.5:n.58dup
ENST00000578711.1:n.847dup
ENST00000578809.5:n.135dup
ENST00000579391.1:n.171dup
ENST00000579425.5:n.679dup
ENST00000579546.1:c.302dup
ENST00000579894.5:n.350dup
ENST00000582450.1:n.71dup
ENST00000583074.5:n.184dup
ENST00000583850.5:n.338dup
ENST00000583858.5:c.494dup
ENST00000585203.6:n.754dup
NM_000018.3:c.1563dup	NP_000009.1:p.Ser522GlnfsTer?
NM_001033859.2:c.1497dup	NP_001029031.1:p.Ser500GlnfsTer?
NM_001270447.1:c.1632dup	NP_001257376.1:p.Ser545GlnfsTer?
NM_001270448.1:c.1335dup	NP_001257377.1:p.Ser446GlnfsTer?
XM_006721516.2:c.1563dup	XP_006721579.2:p.Ser522GlnfsTer?
XM_011523829.1:c.1465dup	XP_011522131.1:p.Gln489ProfsTer9
XM_011523830.1:c.1465dup	XP_011522132.1:p.Gln489ProfsTer9
XR_934021.1:n.1670dup
XR_934022.1:n.1572dup
XR_934023.1:n.1572dup
XM_006721516.3:c.1563dup	XP_006721579.2:p.Ser522GlnfsTer?
XM_011523829.2:c.1465dup	XP_011522131.1:p.Gln489ProfsTer9
XM_011523830.2:c.1465dup	XP_011522132.1:p.Gln489ProfsTer9
XM_024450741.1:c.1465dup	XP_024306509.1:p.Gln489ProfsTer9
XR_934021.2:n.1622dup
XR_934022.2:n.1524dup
XR_934023.2:n.1524dup
NM_000018.4:c.1563dup MANE Select	NP_000009.1:p.Ser522GlnfsTer?
NM_001033859.3:c.1497dup	NP_001029031.1:p.Ser500GlnfsTer?
NM_001270447.2:c.1632dup	NP_001257376.1:p.Ser545GlnfsTer?
NM_001270448.2:c.1335dup	NP_001257377.1:p.Ser446GlnfsTer?