Canonical Allele Identifier: CA2635783056
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223868del , CM000679.2:g.7223868del GRCh38
NC_000017.10:g.7127187del , CM000679.1:g.7127187del GRCh37
NC_000017.9:g.7067911del NCBI36
NG_007975.1:g.9035del
NG_008391.2:g.1184del
NG_033038.1:g.15678del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1325del MANE Select ENSP00000349297.5:p.Phe442SerfsTer2
ENST00000322910.9:c.*1280del ENSP00000325395.5:n.*1280del
ENST00000350303.9:c.1259del ENSP00000344152.5:p.Phe420SerfsTer2
ENST00000356839.9:c.1325del ENSP00000349297.5:p.Phe442SerfsTer2
ENST00000542255.6:c.183del
ENST00000543245.6:c.1394del ENSP00000438689.2:p.Phe465SerfsTer2
ENST00000578711.1:n.364del
ENST00000579425.5:n.349del
ENST00000579546.1:c.162del
ENST00000583074.5:n.44del
ENST00000583850.5:n.100del
ENST00000583858.5:c.354del
ENST00000585203.6:n.523+10del
NM_000018.3:c.1325del NP_000009.1:p.Phe442SerfsTer2
NM_001033859.2:c.1259del NP_001029031.1:p.Phe420SerfsTer2
NM_001270447.1:c.1394del NP_001257376.1:p.Phe465SerfsTer2
NM_001270448.1:c.1097del NP_001257377.1:p.Phe366SerfsTer2
XM_006721516.2:c.1325del XP_006721579.2:p.Phe442SerfsTer2
XM_011523829.1:c.1325del XP_011522131.1:p.Phe442SerfsTer2
XM_011523830.1:c.1325del XP_011522132.1:p.Phe442SerfsTer2
XR_934021.1:n.1432del
XR_934022.1:n.1432del
XR_934023.1:n.1432del
XM_006721516.3:c.1325del XP_006721579.2:p.Phe442SerfsTer2
XM_011523829.2:c.1325del XP_011522131.1:p.Phe442SerfsTer2
XM_011523830.2:c.1325del XP_011522132.1:p.Phe442SerfsTer2
XM_024450741.1:c.1325del XP_024306509.1:p.Phe442SerfsTer2
XR_934021.2:n.1384del
XR_934022.2:n.1384del
XR_934023.2:n.1384del
NM_000018.4:c.1325del MANE Select NP_000009.1:p.Phe442SerfsTer2
NM_001033859.3:c.1259del NP_001029031.1:p.Phe420SerfsTer2
NM_001270447.2:c.1394del NP_001257376.1:p.Phe465SerfsTer2
NM_001270448.2:c.1097del NP_001257377.1:p.Phe366SerfsTer2