Canonical Allele Identifier: CA312288
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 203592
dbSNP Id: rs796051916

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224010dup , CM000679.2:g.7224010dup GRCh38
NC_000017.10:g.7127329dup , CM000679.1:g.7127329dup GRCh37
NC_000017.9:g.7068053dup NCBI36
NG_007975.1:g.9177dup
NG_008391.2:g.1042dup
NG_033038.1:g.15536dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1375dup MANE Select ENSP00000349297.5:p.Arg459ProfsTer4
ENST00000322910.9:c.*1330dup ENSP00000325395.5:n.*1330dup
ENST00000350303.9:c.1309dup ENSP00000344152.5:p.Arg437ProfsTer4
ENST00000356839.9:c.1375dup ENSP00000349297.5:p.Arg459ProfsTer4
ENST00000542255.6:c.233dup
ENST00000543245.6:c.1444dup ENSP00000438689.2:p.Arg482ProfsTer4
ENST00000578711.1:n.506dup
ENST00000579425.5:n.491dup
ENST00000579546.1:c.212dup
ENST00000579894.5:n.86dup
ENST00000583074.5:n.94dup
ENST00000583850.5:n.150dup
ENST00000583858.5:c.404dup
ENST00000585203.6:n.566dup
NM_000018.3:c.1375dup NP_000009.1:p.Arg459ProfsTer4
NM_001033859.2:c.1309dup NP_001029031.1:p.Arg437ProfsTer4
NM_001270447.1:c.1444dup NP_001257376.1:p.Arg482ProfsTer4
NM_001270448.1:c.1147dup NP_001257377.1:p.Arg383ProfsTer4
XM_006721516.2:c.1375dup XP_006721579.2:p.Arg459ProfsTer4
XM_011523829.1:c.1375dup XP_011522131.1:p.Arg459ProfsTer4
XM_011523830.1:c.1375dup XP_011522132.1:p.Arg459ProfsTer4
XR_934021.1:n.1482dup
XR_934022.1:n.1482dup
XR_934023.1:n.1482dup
XM_006721516.3:c.1375dup XP_006721579.2:p.Arg459ProfsTer4
XM_011523829.2:c.1375dup XP_011522131.1:p.Arg459ProfsTer4
XM_011523830.2:c.1375dup XP_011522132.1:p.Arg459ProfsTer4
XM_024450741.1:c.1375dup XP_024306509.1:p.Arg459ProfsTer4
XR_934021.2:n.1434dup
XR_934022.2:n.1434dup
XR_934023.2:n.1434dup
NM_000018.4:c.1375dup MANE Select NP_000009.1:p.Arg459ProfsTer4
NM_001033859.3:c.1309dup NP_001029031.1:p.Arg437ProfsTer4
NM_001270447.2:c.1444dup NP_001257376.1:p.Arg482ProfsTer4
NM_001270448.2:c.1147dup NP_001257377.1:p.Arg383ProfsTer4