Canonical Allele Identifier: CA2963293046
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224539del , CM000679.2:g.7224539del GRCh38
NC_000017.10:g.7127858del , CM000679.1:g.7127858del GRCh37
NC_000017.9:g.7068582del NCBI36
NG_007975.1:g.9706del
NG_008391.2:g.512del
NG_033038.1:g.15006del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1665del MANE Select ENSP00000349297.5:p.Lys556ArgfsTer?
ENST00000322910.9:c.*1620del ENSP00000325395.5:n.*1620del
ENST00000350303.9:c.1599del ENSP00000344152.5:p.Lys534ArgfsTer?
ENST00000356839.9:c.1665del ENSP00000349297.5:p.Lys556ArgfsTer?
ENST00000542255.6:c.523del
ENST00000543245.6:c.1734del ENSP00000438689.2:p.Lys579ArgfsTer?
ENST00000578319.5:n.246del
ENST00000578711.1:n.1035del
ENST00000578809.5:n.237del
ENST00000579391.1:n.269del
ENST00000579425.5:n.781del
ENST00000579546.1:c.400del
ENST00000582450.1:n.173del
ENST00000583074.5:n.286del
ENST00000583848.5:c.51del ENSP00000466487.1:p.Lys18ArgfsTer?
ENST00000583850.5:n.436del
ENST00000583858.5:c.596del
ENST00000585203.6:n.856del
NM_000018.3:c.1665del NP_000009.1:p.Lys556ArgfsTer?
NM_001033859.2:c.1599del NP_001029031.1:p.Lys534ArgfsTer?
NM_001270447.1:c.1734del NP_001257376.1:p.Lys579ArgfsTer?
NM_001270448.1:c.1437del NP_001257377.1:p.Lys480ArgfsTer?
XM_006721516.2:c.1665del XP_006721579.2:p.Lys556ArgfsTer13
XM_011523829.1:c.1563del XP_011522131.1:p.Lys522ArgfsTer13
XM_011523830.1:c.1563del XP_011522132.1:p.Lys522ArgfsTer?
XR_934021.1:n.1768del
XR_934022.1:n.1674del
XR_934023.1:n.1674del
XM_006721516.3:c.1665del XP_006721579.2:p.Lys556ArgfsTer13
XM_011523829.2:c.1563del XP_011522131.1:p.Lys522ArgfsTer13
XM_011523830.2:c.1563del XP_011522132.1:p.Lys522ArgfsTer?
XM_024450741.1:c.1653del XP_024306509.1:p.Lys552ArgfsTer?
XR_934021.2:n.1720del
XR_934022.2:n.1626del
XR_934023.2:n.1626del
NM_000018.4:c.1665del MANE Select NP_000009.1:p.Lys556ArgfsTer?
NM_001033859.3:c.1599del NP_001029031.1:p.Lys534ArgfsTer?
NM_001270447.2:c.1734del NP_001257376.1:p.Lys579ArgfsTer?
NM_001270448.2:c.1437del NP_001257377.1:p.Lys480ArgfsTer?