Canonical Allele Identifier: CA2963293036
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224536del , CM000679.2:g.7224536del GRCh38
NC_000017.10:g.7127855del , CM000679.1:g.7127855del GRCh37
NC_000017.9:g.7068579del NCBI36
NG_007975.1:g.9703del
NG_008391.2:g.515del
NG_033038.1:g.15009del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1662del MANE Select ENSP00000349297.5:p.His554GlnfsTer?
ENST00000322910.9:c.*1617del ENSP00000325395.5:n.*1617del
ENST00000350303.9:c.1596del ENSP00000344152.5:p.His532GlnfsTer?
ENST00000356839.9:c.1662del ENSP00000349297.5:p.His554GlnfsTer?
ENST00000542255.6:c.520del
ENST00000543245.6:c.1731del ENSP00000438689.2:p.His577GlnfsTer?
ENST00000578319.5:n.243del
ENST00000578711.1:n.1032del
ENST00000578809.5:n.234del
ENST00000579391.1:n.266del
ENST00000579425.5:n.778del
ENST00000579546.1:c.397del
ENST00000582450.1:n.170del
ENST00000583074.5:n.283del
ENST00000583848.5:c.48del ENSP00000466487.1:p.His16GlnfsTer?
ENST00000583850.5:n.433del
ENST00000583858.5:c.593del
ENST00000585203.6:n.853del
NM_000018.3:c.1662del NP_000009.1:p.His554GlnfsTer?
NM_001033859.2:c.1596del NP_001029031.1:p.His532GlnfsTer?
NM_001270447.1:c.1731del NP_001257376.1:p.His577GlnfsTer?
NM_001270448.1:c.1434del NP_001257377.1:p.His478GlnfsTer?
XM_006721516.2:c.1662del XP_006721579.2:p.His554GlnfsTer15
XM_011523829.1:c.1560del XP_011522131.1:p.His520GlnfsTer15
XM_011523830.1:c.1560del XP_011522132.1:p.His520GlnfsTer?
XR_934021.1:n.1765del
XR_934022.1:n.1671del
XR_934023.1:n.1671del
XM_006721516.3:c.1662del XP_006721579.2:p.His554GlnfsTer15
XM_011523829.2:c.1560del XP_011522131.1:p.His520GlnfsTer15
XM_011523830.2:c.1560del XP_011522132.1:p.His520GlnfsTer?
XM_024450741.1:c.1650del XP_024306509.1:p.His550GlnfsTer?
XR_934021.2:n.1717del
XR_934022.2:n.1623del
XR_934023.2:n.1623del
NM_000018.4:c.1662del MANE Select NP_000009.1:p.His554GlnfsTer?
NM_001033859.3:c.1596del NP_001029031.1:p.His532GlnfsTer?
NM_001270447.2:c.1731del NP_001257376.1:p.His577GlnfsTer?
NM_001270448.2:c.1434del NP_001257377.1:p.His478GlnfsTer?