Canonical Allele Identifier: CA2635784186
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224370del , CM000679.2:g.7224370del GRCh38
NC_000017.10:g.7127689del , CM000679.1:g.7127689del GRCh37
NC_000017.9:g.7068413del NCBI36
NG_007975.1:g.9537del
NG_008391.2:g.682del
NG_033038.1:g.15176del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1582del MANE Select ENSP00000349297.5:p.Glu528SerfsTer2
ENST00000322910.9:c.*1537del ENSP00000325395.5:n.*1537del
ENST00000350303.9:c.1516del ENSP00000344152.5:p.Glu506SerfsTer2
ENST00000356839.9:c.1582del ENSP00000349297.5:p.Glu528SerfsTer2
ENST00000542255.6:c.440del
ENST00000543245.6:c.1651del ENSP00000438689.2:p.Glu551SerfsTer2
ENST00000578319.5:n.77del
ENST00000578711.1:n.866del
ENST00000578809.5:n.154del
ENST00000579391.1:n.190del
ENST00000579425.5:n.698del
ENST00000579546.1:c.321del
ENST00000579894.5:n.369del
ENST00000582450.1:n.90del
ENST00000583074.5:n.203del
ENST00000583850.5:n.357del
ENST00000583858.5:c.513del
ENST00000585203.6:n.773del
NM_000018.3:c.1582del NP_000009.1:p.Glu528SerfsTer2
NM_001033859.2:c.1516del NP_001029031.1:p.Glu506SerfsTer2
NM_001270447.1:c.1651del NP_001257376.1:p.Glu551SerfsTer2
NM_001270448.1:c.1354del NP_001257377.1:p.Glu452SerfsTer2
XM_006721516.2:c.1582del XP_006721579.2:p.Glu528SerfsTer2
XM_011523829.1:c.1484del XP_011522131.1:p.Gly495GlufsTer23
XM_011523830.1:c.1484del XP_011522132.1:p.Gly495GlufsTer23
XR_934021.1:n.1689del
XR_934022.1:n.1591del
XR_934023.1:n.1591del
XM_006721516.3:c.1582del XP_006721579.2:p.Glu528SerfsTer2
XM_011523829.2:c.1484del XP_011522131.1:p.Gly495GlufsTer23
XM_011523830.2:c.1484del XP_011522132.1:p.Gly495GlufsTer23
XM_024450741.1:c.1484del XP_024306509.1:p.Gly495GlufsTer28
XR_934021.2:n.1641del
XR_934022.2:n.1543del
XR_934023.2:n.1543del
NM_000018.4:c.1582del MANE Select NP_000009.1:p.Glu528SerfsTer2
NM_001033859.3:c.1516del NP_001029031.1:p.Glu506SerfsTer2
NM_001270447.2:c.1651del NP_001257376.1:p.Glu551SerfsTer2
NM_001270448.2:c.1354del NP_001257377.1:p.Glu452SerfsTer2