Canonical Allele Identifier: CA624860703
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 661308
ClinVar RCV Id: RCV000818697
dbSNP Id: rs1175359422

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224003dup , CM000679.2:g.7224003dup GRCh38
NC_000017.10:g.7127322dup , CM000679.1:g.7127322dup GRCh37
NC_000017.9:g.7068046dup NCBI36
NG_007975.1:g.9170dup
NG_008391.2:g.1048dup
NG_033038.1:g.15542dup

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1368dup MANE Select ENSP00000349297.5:p.Ile457HisfsTer6
ENST00000322910.9:c.*1323dup ENSP00000325395.5:n.*1323dup
ENST00000350303.9:c.1302dup ENSP00000344152.5:p.Ile435HisfsTer6
ENST00000356839.9:c.1368dup ENSP00000349297.5:p.Ile457HisfsTer6
ENST00000542255.6:c.226dup
ENST00000543245.6:c.1437dup ENSP00000438689.2:p.Ile480HisfsTer6
ENST00000578711.1:n.499dup
ENST00000579425.5:n.484dup
ENST00000579546.1:c.205dup
ENST00000579894.5:n.79dup
ENST00000583074.5:n.87dup
ENST00000583850.5:n.143dup
ENST00000583858.5:c.397dup
ENST00000585203.6:n.559dup
NM_000018.3:c.1368dup NP_000009.1:p.Ile457HisfsTer6
NM_001033859.2:c.1302dup NP_001029031.1:p.Ile435HisfsTer6
NM_001270447.1:c.1437dup NP_001257376.1:p.Ile480HisfsTer6
NM_001270448.1:c.1140dup NP_001257377.1:p.Ile381HisfsTer6
XM_006721516.2:c.1368dup XP_006721579.2:p.Ile457HisfsTer6
XM_011523829.1:c.1368dup XP_011522131.1:p.Ile457HisfsTer6
XM_011523830.1:c.1368dup XP_011522132.1:p.Ile457HisfsTer6
XR_934021.1:n.1475dup
XR_934022.1:n.1475dup
XR_934023.1:n.1475dup
XM_006721516.3:c.1368dup XP_006721579.2:p.Ile457HisfsTer6
XM_011523829.2:c.1368dup XP_011522131.1:p.Ile457HisfsTer6
XM_011523830.2:c.1368dup XP_011522132.1:p.Ile457HisfsTer6
XM_024450741.1:c.1368dup XP_024306509.1:p.Ile457HisfsTer6
XR_934021.2:n.1427dup
XR_934022.2:n.1427dup
XR_934023.2:n.1427dup
NM_000018.4:c.1368dup MANE Select NP_000009.1:p.Ile457HisfsTer6
NM_001033859.3:c.1302dup NP_001029031.1:p.Ile435HisfsTer6
NM_001270447.2:c.1437dup NP_001257376.1:p.Ile480HisfsTer6
NM_001270448.2:c.1140dup NP_001257377.1:p.Ile381HisfsTer6