Canonical Allele Identifier: CA658824840

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 552450
• ClinVar RCV Id: RCV000667710
• dbSNP Id: rs1555528508
• MyVariant Identifiers: chr17:g.7222831_7222853dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222831_7222853dup , CM000679.2:g.7222831_7222853dup	GRCh38
NC_000017.10:g.7126150_7126172dup , CM000679.1:g.7126150_7126172dup	GRCh37
NC_000017.9:g.7066874_7066896dup	NCBI36
NG_007975.1:g.7998_8020dup
NG_008391.2:g.2199_2221dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1043_1065dup MANE Select	ENSP00000349297.5:p.Ile356TrpfsTer5
ENST00000322910.9:c.*998_*1020dup	ENSP00000325395.5:n.*998_*1020dup
ENST00000350303.9:c.977_999dup	ENSP00000344152.5:p.Ile334TrpfsTer5
ENST00000356839.9:c.1043_1065dup	ENSP00000349297.5:p.Ile356TrpfsTer5
ENST00000543245.6:c.1112_1134dup	ENSP00000438689.2:p.Ile379TrpfsTer5
ENST00000578824.5:n.192_214dup
ENST00000582379.1:n.427_449dup
ENST00000583858.5:c.72_94dup
NM_000018.3:c.1043_1065dup	NP_000009.1:p.Ile356TrpfsTer5
NM_001033859.2:c.977_999dup	NP_001029031.1:p.Ile334TrpfsTer5
NM_001270447.1:c.1112_1134dup	NP_001257376.1:p.Ile379TrpfsTer5
NM_001270448.1:c.815_837dup	NP_001257377.1:p.Ile280TrpfsTer5
XM_006721516.2:c.1043_1065dup	XP_006721579.2:p.Ile356TrpfsTer5
XM_011523829.1:c.1043_1065dup	XP_011522131.1:p.Ile356TrpfsTer5
XM_011523830.1:c.1043_1065dup	XP_011522132.1:p.Ile356TrpfsTer5
XR_934021.1:n.1150_1172dup
XR_934022.1:n.1150_1172dup
XR_934023.1:n.1150_1172dup
XM_006721516.3:c.1043_1065dup	XP_006721579.2:p.Ile356TrpfsTer5
XM_011523829.2:c.1043_1065dup	XP_011522131.1:p.Ile356TrpfsTer5
XM_011523830.2:c.1043_1065dup	XP_011522132.1:p.Ile356TrpfsTer5
XM_024450741.1:c.1043_1065dup	XP_024306509.1:p.Ile356TrpfsTer5
XR_934021.2:n.1102_1124dup
XR_934022.2:n.1102_1124dup
XR_934023.2:n.1102_1124dup
NM_000018.4:c.1043_1065dup MANE Select	NP_000009.1:p.Ile356TrpfsTer5
NM_001033859.3:c.977_999dup	NP_001029031.1:p.Ile334TrpfsTer5
NM_001270447.2:c.1112_1134dup	NP_001257376.1:p.Ile379TrpfsTer5
NM_001270448.2:c.815_837dup	NP_001257377.1:p.Ile280TrpfsTer5