Canonical Allele Identifier: CA2963293051
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224541del , CM000679.2:g.7224541del GRCh38
NC_000017.10:g.7127860del , CM000679.1:g.7127860del GRCh37
NC_000017.9:g.7068584del NCBI36
NG_007975.1:g.9708del
NG_008391.2:g.511del
NG_033038.1:g.15005del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1667del MANE Select ENSP00000349297.5:p.Lys556ArgfsTer?
ENST00000322910.9:c.*1622del ENSP00000325395.5:n.*1622del
ENST00000350303.9:c.1601del ENSP00000344152.5:p.Lys534ArgfsTer?
ENST00000356839.9:c.1667del ENSP00000349297.5:p.Lys556ArgfsTer?
ENST00000542255.6:c.525del
ENST00000543245.6:c.1736del ENSP00000438689.2:p.Lys579ArgfsTer?
ENST00000578319.5:n.248del
ENST00000578711.1:n.1037del
ENST00000578809.5:n.239del
ENST00000579391.1:n.271del
ENST00000579425.5:n.783del
ENST00000579546.1:c.402del
ENST00000582450.1:n.175del
ENST00000583074.5:n.288del
ENST00000583848.5:c.53del ENSP00000466487.1:p.Lys18ArgfsTer?
ENST00000583850.5:n.438del
ENST00000583858.5:c.598del
ENST00000585203.6:n.858del
NM_000018.3:c.1667del NP_000009.1:p.Lys556ArgfsTer?
NM_001033859.2:c.1601del NP_001029031.1:p.Lys534ArgfsTer?
NM_001270447.1:c.1736del NP_001257376.1:p.Lys579ArgfsTer?
NM_001270448.1:c.1439del NP_001257377.1:p.Lys480ArgfsTer?
XM_006721516.2:c.1667del XP_006721579.2:p.Lys556ArgfsTer13
XM_011523829.1:c.1565del XP_011522131.1:p.Lys522ArgfsTer13
XM_011523830.1:c.1565del XP_011522132.1:p.Lys522ArgfsTer?
XR_934021.1:n.1770del
XR_934022.1:n.1676del
XR_934023.1:n.1676del
XM_006721516.3:c.1667del XP_006721579.2:p.Lys556ArgfsTer13
XM_011523829.2:c.1565del XP_011522131.1:p.Lys522ArgfsTer13
XM_011523830.2:c.1565del XP_011522132.1:p.Lys522ArgfsTer?
XM_024450741.1:c.1655del XP_024306509.1:p.Lys552ArgfsTer?
XR_934021.2:n.1722del
XR_934022.2:n.1628del
XR_934023.2:n.1628del
NM_000018.4:c.1667del MANE Select NP_000009.1:p.Lys556ArgfsTer?
NM_001033859.3:c.1601del NP_001029031.1:p.Lys534ArgfsTer?
NM_001270447.2:c.1736del NP_001257376.1:p.Lys579ArgfsTer?
NM_001270448.2:c.1439del NP_001257377.1:p.Lys480ArgfsTer?