Canonical Allele Identifier: CA2635786900
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224866_7224867del , CM000679.2:g.7224866_7224867del GRCh38
NC_000017.10:g.7128185_7128186del , CM000679.1:g.7128185_7128186del GRCh37
NC_000017.9:g.7068909_7068910del NCBI36
NG_007975.1:g.10033_10034del
NG_008391.2:g.186_187del
NG_033038.1:g.14680_14681del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1809_1810del MANE Select ENSP00000349297.5:p.Cys603Ter
ENST00000322910.9:c.*1764_*1765del ENSP00000325395.5:n.*1764_*1765del
ENST00000350303.9:c.1743_1744del ENSP00000344152.5:p.Cys581Ter
ENST00000356839.9:c.1809_1810del ENSP00000349297.5:p.Cys603Ter
ENST00000542255.6:c.688_689del
ENST00000543245.6:c.1878_1879del ENSP00000438689.2:p.Cys626Ter
ENST00000578033.1:n.234_235del
ENST00000578319.5:n.390_391del
ENST00000578711.1:n.1362_1363del
ENST00000578809.5:n.381_382del
ENST00000579425.5:n.925_926del
ENST00000579546.1:c.544_545del
ENST00000583848.5:c.175_176del ENSP00000466487.1:n.175_176del
ENST00000583850.5:n.580_581del
ENST00000583858.5:c.740_741del
NM_000018.3:c.1809_1810del NP_000009.1:p.Cys603Ter
NM_001033859.2:c.1743_1744del NP_001029031.1:p.Cys581Ter
NM_001270447.1:c.1878_1879del NP_001257376.1:p.Cys626Ter
NM_001270448.1:c.1581_1582del NP_001257377.1:p.Cys527Ter
XM_006721516.2:c.1830_1831del XP_006721579.2:p.Cys610Ter
XM_011523829.1:c.1728_1729del XP_011522131.1:p.Cys576Ter
XM_011523830.1:c.1707_1708del XP_011522132.1:p.Cys569Ter
XR_934021.1:n.1912_1913del
XR_934022.1:n.1818_1819del
XR_934023.1:n.1839_1840del
XM_006721516.3:c.1830_1831del XP_006721579.2:p.Cys610Ter
XM_011523829.2:c.1728_1729del XP_011522131.1:p.Cys576Ter
XM_011523830.2:c.1707_1708del XP_011522132.1:p.Cys569Ter
XM_024450741.1:c.1797_1798del XP_024306509.1:p.Cys599Ter
XR_934021.2:n.1864_1865del
XR_934022.2:n.1770_1771del
XR_934023.2:n.1791_1792del
NM_000018.4:c.1809_1810del MANE Select NP_000009.1:p.Cys603Ter
NM_001033859.3:c.1743_1744del NP_001029031.1:p.Cys581Ter
NM_001270447.2:c.1878_1879del NP_001257376.1:p.Cys626Ter
NM_001270448.2:c.1581_1582del NP_001257377.1:p.Cys527Ter