Canonical Allele Identifier: CA2245701458
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222253_7222256delinsGAGA , CM000679.2:g.7222253_7222256delinsGAGA GRCh38
NC_000017.10:g.7125572_7125575delinsGAGA , CM000679.1:g.7125572_7125575delinsGAGA GRCh37
NC_000017.9:g.7066296_7066299delinsGAGA NCBI36
NG_007975.1:g.7420_7423delinsGAGA
NG_008391.2:g.2795_2798delinsTCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.829_832delinsGAGA MANE Select ENSP00000349297.5:p.Glu277=
ENST00000322910.9:c.*784_*787delinsGAGA ENSP00000325395.5:n.*784_*787delinsGAGA
ENST00000350303.9:c.763_766delinsGAGA ENSP00000344152.5:p.Glu255=
ENST00000356839.9:c.829_832delinsGAGA ENSP00000349297.5:p.Glu277=
ENST00000543245.6:c.898_901delinsGAGA ENSP00000438689.2:p.Glu300=
ENST00000577191.5:n.1001_1004delinsGAGA
ENST00000581378.5:c.547_550delinsGAGA
ENST00000582379.1:n.213_216delinsGAGA
NM_000018.3:c.829_832delinsGAGA NP_000009.1:p.Glu277=
NM_001033859.2:c.763_766delinsGAGA NP_001029031.1:p.Glu255=
NM_001270447.1:c.898_901delinsGAGA NP_001257376.1:p.Glu300=
NM_001270448.1:c.601_604delinsGAGA NP_001257377.1:p.Glu201=
XM_006721516.2:c.829_832delinsGAGA XP_006721579.2:p.Glu277=
XM_011523829.1:c.829_832delinsGAGA XP_011522131.1:p.Glu277=
XM_011523830.1:c.829_832delinsGAGA XP_011522132.1:p.Glu277=
XR_934021.1:n.936_939delinsGAGA
XR_934022.1:n.936_939delinsGAGA
XR_934023.1:n.936_939delinsGAGA
XM_006721516.3:c.829_832delinsGAGA XP_006721579.2:p.Glu277=
XM_011523829.2:c.829_832delinsGAGA XP_011522131.1:p.Glu277=
XM_011523830.2:c.829_832delinsGAGA XP_011522132.1:p.Glu277=
XM_024450741.1:c.829_832delinsGAGA XP_024306509.1:p.Glu277=
XR_934021.2:n.888_891delinsGAGA
XR_934022.2:n.888_891delinsGAGA
XR_934023.2:n.888_891delinsGAGA
NM_000018.4:c.829_832delinsGAGA MANE Select NP_000009.1:p.Glu277=
NM_001033859.3:c.763_766delinsGAGA NP_001029031.1:p.Glu255=
NM_001270447.2:c.898_901delinsGAGA NP_001257376.1:p.Glu300=
NM_001270448.2:c.601_604delinsGAGA NP_001257377.1:p.Glu201=