Canonical Allele Identifier: CA2739267103

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2851515
• ClinVar RCV Id: RCV003602451

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223833dup , CM000679.2:g.7223833dup	GRCh38
NC_000017.10:g.7127152dup , CM000679.1:g.7127152dup	GRCh37
NC_000017.9:g.7067876dup	NCBI36
NG_007975.1:g.9000dup
NG_008391.2:g.1218dup
NG_033038.1:g.15712dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1290dup MANE Select	ENSP00000349297.5:p.Asp431ArgfsTer2
ENST00000322910.9:c.*1245dup	ENSP00000325395.5:n.*1245dup
ENST00000350303.9:c.1224dup	ENSP00000344152.5:p.Asp409ArgfsTer2
ENST00000356839.9:c.1290dup	ENSP00000349297.5:p.Asp431ArgfsTer2
ENST00000542255.6:c.148dup
ENST00000543245.6:c.1359dup	ENSP00000438689.2:p.Asp454ArgfsTer2
ENST00000578711.1:n.329dup
ENST00000578824.5:n.706dup
ENST00000579425.5:n.314dup
ENST00000579546.1:c.127dup
ENST00000583074.5:n.9dup
ENST00000583850.5:n.65dup
ENST00000583858.5:c.319dup
ENST00000585203.6:n.498dup
NM_000018.3:c.1290dup	NP_000009.1:p.Asp431ArgfsTer2
NM_001033859.2:c.1224dup	NP_001029031.1:p.Asp409ArgfsTer2
NM_001270447.1:c.1359dup	NP_001257376.1:p.Asp454ArgfsTer2
NM_001270448.1:c.1062dup	NP_001257377.1:p.Asp355ArgfsTer2
XM_006721516.2:c.1290dup	XP_006721579.2:p.Asp431ArgfsTer2
XM_011523829.1:c.1290dup	XP_011522131.1:p.Asp431ArgfsTer2
XM_011523830.1:c.1290dup	XP_011522132.1:p.Asp431ArgfsTer2
XR_934021.1:n.1397dup
XR_934022.1:n.1397dup
XR_934023.1:n.1397dup
XM_006721516.3:c.1290dup	XP_006721579.2:p.Asp431ArgfsTer2
XM_011523829.2:c.1290dup	XP_011522131.1:p.Asp431ArgfsTer2
XM_011523830.2:c.1290dup	XP_011522132.1:p.Asp431ArgfsTer2
XM_024450741.1:c.1290dup	XP_024306509.1:p.Asp431ArgfsTer2
XR_934021.2:n.1349dup
XR_934022.2:n.1349dup
XR_934023.2:n.1349dup
NM_000018.4:c.1290dup MANE Select	NP_000009.1:p.Asp431ArgfsTer2
NM_001033859.3:c.1224dup	NP_001029031.1:p.Asp409ArgfsTer2
NM_001270447.2:c.1359dup	NP_001257376.1:p.Asp454ArgfsTer2
NM_001270448.2:c.1062dup	NP_001257377.1:p.Asp355ArgfsTer2