Canonical Allele Identifier: CA1139533034
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222253_7222256del , CM000679.2:g.7222253_7222256del GRCh38
NC_000017.10:g.7125572_7125575del , CM000679.1:g.7125572_7125575del GRCh37
NC_000017.9:g.7066296_7066299del NCBI36
NG_007975.1:g.7420_7423del
NG_008391.2:g.2795_2798del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.829_832del MANE Select ENSP00000349297.5:p.Glu277ArgfsTer?
ENST00000322910.9:c.*784_*787del ENSP00000325395.5:n.*784_*787del
ENST00000350303.9:c.763_766del ENSP00000344152.5:p.Glu255ArgfsTer?
ENST00000356839.9:c.829_832del ENSP00000349297.5:p.Glu277ArgfsTer?
ENST00000543245.6:c.898_901del ENSP00000438689.2:p.Glu300ArgfsTer?
ENST00000577191.5:n.1001_1004del
ENST00000581378.5:c.547_550del
ENST00000582379.1:n.213_216del
NM_000018.3:c.829_832del NP_000009.1:p.Glu277ArgfsTer?
NM_001033859.2:c.763_766del NP_001029031.1:p.Glu255ArgfsTer?
NM_001270447.1:c.898_901del NP_001257376.1:p.Glu300ArgfsTer?
NM_001270448.1:c.601_604del NP_001257377.1:p.Glu201ArgfsTer?
XM_006721516.2:c.829_832del XP_006721579.2:p.Glu277ArgfsTer?
XM_011523829.1:c.829_832del XP_011522131.1:p.Glu277ArgfsTer?
XM_011523830.1:c.829_832del XP_011522132.1:p.Glu277ArgfsTer?
XR_934021.1:n.936_939del
XR_934022.1:n.936_939del
XR_934023.1:n.936_939del
XM_006721516.3:c.829_832del XP_006721579.2:p.Glu277ArgfsTer?
XM_011523829.2:c.829_832del XP_011522131.1:p.Glu277ArgfsTer?
XM_011523830.2:c.829_832del XP_011522132.1:p.Glu277ArgfsTer?
XM_024450741.1:c.829_832del XP_024306509.1:p.Glu277ArgfsTer?
XR_934021.2:n.888_891del
XR_934022.2:n.888_891del
XR_934023.2:n.888_891del
NM_000018.4:c.829_832del MANE Select NP_000009.1:p.Glu277ArgfsTer?
NM_001033859.3:c.763_766del NP_001029031.1:p.Glu255ArgfsTer?
NM_001270447.2:c.898_901del NP_001257376.1:p.Glu300ArgfsTer?
NM_001270448.2:c.601_604del NP_001257377.1:p.Glu201ArgfsTer?