Canonical Allele Identifier: CA16041877
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 370091
ClinVar RCV Id: RCV000411935
dbSNP Id: rs1057516226

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224822del , CM000679.2:g.7224822del GRCh38
NC_000017.10:g.7128141del , CM000679.1:g.7128141del GRCh37
NC_000017.9:g.7068865del NCBI36
NG_007975.1:g.9989del
NG_008391.2:g.231del
NG_033038.1:g.14725del

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1765del MANE Select ENSP00000349297.5:p.Leu589Ter
ENST00000322910.9:c.*1720del ENSP00000325395.5:n.*1720del
ENST00000350303.9:c.1699del ENSP00000344152.5:p.Leu567Ter
ENST00000356839.9:c.1765del ENSP00000349297.5:p.Leu589Ter
ENST00000542255.6:c.644del
ENST00000543245.6:c.1834del ENSP00000438689.2:p.Leu612Ter
ENST00000578033.1:n.190del
ENST00000578319.5:n.346del
ENST00000578711.1:n.1318del
ENST00000578809.5:n.337del
ENST00000579425.5:n.881del
ENST00000579546.1:c.500del
ENST00000583074.5:n.407del
ENST00000583848.5:c.131del ENSP00000466487.1:p.Pro44LeufsTer?
ENST00000583850.5:n.536del
ENST00000583858.5:c.696del
NM_000018.3:c.1765del NP_000009.1:p.Leu589Ter
NM_001033859.2:c.1699del NP_001029031.1:p.Leu567Ter
NM_001270447.1:c.1834del NP_001257376.1:p.Leu612Ter
NM_001270448.1:c.1537del NP_001257377.1:p.Leu513Ter
XM_006721516.2:c.1786del XP_006721579.2:p.Leu596Ter
XM_011523829.1:c.1684del XP_011522131.1:p.Leu562Ter
XM_011523830.1:c.1663del XP_011522132.1:p.Leu555Ter
XR_934021.1:n.1868del
XR_934022.1:n.1774del
XR_934023.1:n.1795del
XM_006721516.3:c.1786del XP_006721579.2:p.Leu596Ter
XM_011523829.2:c.1684del XP_011522131.1:p.Leu562Ter
XM_011523830.2:c.1663del XP_011522132.1:p.Leu555Ter
XM_024450741.1:c.1753del XP_024306509.1:p.Leu585Ter
XR_934021.2:n.1820del
XR_934022.2:n.1726del
XR_934023.2:n.1747del
NM_000018.4:c.1765del MANE Select NP_000009.1:p.Leu589Ter
NM_001033859.3:c.1699del NP_001029031.1:p.Leu567Ter
NM_001270447.2:c.1834del NP_001257376.1:p.Leu612Ter
NM_001270448.2:c.1537del NP_001257377.1:p.Leu513Ter