Canonical Allele Identifier: CA2740095219
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2954735
ClinVar RCV Id: RCV003815934

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224701del , CM000679.2:g.7224701del GRCh38
NC_000017.10:g.7128020del , CM000679.1:g.7128020del GRCh37
NC_000017.9:g.7068744del NCBI36
NG_007975.1:g.9868del
NG_008391.2:g.351del
NG_033038.1:g.14845del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1738del MANE Select ENSP00000349297.5:p.Val580TrpfsTer10
ENST00000322910.9:c.*1693del ENSP00000325395.5:n.*1693del
ENST00000350303.9:c.1672del ENSP00000344152.5:p.Val558TrpfsTer10
ENST00000356839.9:c.1738del ENSP00000349297.5:p.Val580TrpfsTer10
ENST00000542255.6:c.537-14del
ENST00000543245.6:c.1807del ENSP00000438689.2:p.Val603TrpfsTer10
ENST00000578033.1:n.69del
ENST00000578319.5:n.319del
ENST00000578711.1:n.1197del
ENST00000578809.5:n.310del
ENST00000579425.5:n.854del
ENST00000579546.1:c.473del
ENST00000583074.5:n.300-14del
ENST00000583848.5:c.104del ENSP00000466487.1:p.Gly35ValfsTer?
ENST00000583850.5:n.509del
ENST00000583858.5:c.669del
ENST00000585203.6:n.929del
NM_000018.3:c.1738del NP_000009.1:p.Val580TrpfsTer10
NM_001033859.2:c.1672del NP_001029031.1:p.Val558TrpfsTer10
NM_001270447.1:c.1807del NP_001257376.1:p.Val603TrpfsTer10
NM_001270448.1:c.1510del NP_001257377.1:p.Val504TrpfsTer10
XM_006721516.2:c.1679-14del XP_006721579.2:n.1679-14del
XM_011523829.1:c.1577-14del XP_011522131.1:n.1577-14del
XM_011523830.1:c.1636del XP_011522132.1:p.Val546TrpfsTer10
XR_934021.1:n.1841del
XR_934022.1:n.1747del
XR_934023.1:n.1688-14del
XM_006721516.3:c.1679-14del XP_006721579.2:n.1679-14del
XM_011523829.2:c.1577-14del XP_011522131.1:n.1577-14del
XM_011523830.2:c.1636del XP_011522132.1:p.Val546TrpfsTer10
XM_024450741.1:c.1726del XP_024306509.1:p.Val576TrpfsTer10
XR_934021.2:n.1793del
XR_934022.2:n.1699del
XR_934023.2:n.1640-14del
NM_000018.4:c.1738del MANE Select NP_000009.1:p.Val580TrpfsTer10
NM_001033859.3:c.1672del NP_001029031.1:p.Val558TrpfsTer10
NM_001270447.2:c.1807del NP_001257376.1:p.Val603TrpfsTer10
NM_001270448.2:c.1510del NP_001257377.1:p.Val504TrpfsTer10