Canonical Allele Identifier: CA2245709389
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222728_7222734delinsGGAGTAC , CM000679.2:g.7222728_7222734delinsGGAGTAC GRCh38
NC_000017.10:g.7126047_7126053delinsGGAGTAC , CM000679.1:g.7126047_7126053delinsGGAGTAC GRCh37
NC_000017.9:g.7066771_7066777delinsGGAGTAC NCBI36
NG_007975.1:g.7895_7901delinsGGAGTAC
NG_008391.2:g.2317_2323delinsGTACTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.940_946delinsGGAGTAC MANE Select ENSP00000349297.5:p.Gly314=
ENST00000322910.9:c.*895_*901delinsGGAGTAC ENSP00000325395.5:n.*895_*901delinsGGAGTAC
ENST00000350303.9:c.874_880delinsGGAGTAC ENSP00000344152.5:p.Gly292=
ENST00000356839.9:c.940_946delinsGGAGTAC ENSP00000349297.5:p.Gly314=
ENST00000543245.6:c.1009_1015delinsGGAGTAC ENSP00000438689.2:p.Gly337=
ENST00000578824.5:n.89_95delinsGGAGTAC
ENST00000581378.5:c.658_664delinsGGAGTAC
ENST00000582379.1:n.324_330delinsGGAGTAC
NM_000018.3:c.940_946delinsGGAGTAC NP_000009.1:p.Gly314=
NM_001033859.2:c.874_880delinsGGAGTAC NP_001029031.1:p.Gly292=
NM_001270447.1:c.1009_1015delinsGGAGTAC NP_001257376.1:p.Gly337=
NM_001270448.1:c.712_718delinsGGAGTAC NP_001257377.1:p.Gly238=
XM_006721516.2:c.940_946delinsGGAGTAC XP_006721579.2:p.Gly314=
XM_011523829.1:c.940_946delinsGGAGTAC XP_011522131.1:p.Gly314=
XM_011523830.1:c.940_946delinsGGAGTAC XP_011522132.1:p.Gly314=
XR_934021.1:n.1047_1053delinsGGAGTAC
XR_934022.1:n.1047_1053delinsGGAGTAC
XR_934023.1:n.1047_1053delinsGGAGTAC
XM_006721516.3:c.940_946delinsGGAGTAC XP_006721579.2:p.Gly314=
XM_011523829.2:c.940_946delinsGGAGTAC XP_011522131.1:p.Gly314=
XM_011523830.2:c.940_946delinsGGAGTAC XP_011522132.1:p.Gly314=
XM_024450741.1:c.940_946delinsGGAGTAC XP_024306509.1:p.Gly314=
XR_934021.2:n.999_1005delinsGGAGTAC
XR_934022.2:n.999_1005delinsGGAGTAC
XR_934023.2:n.999_1005delinsGGAGTAC
NM_000018.4:c.940_946delinsGGAGTAC MANE Select NP_000009.1:p.Gly314=
NM_001033859.3:c.874_880delinsGGAGTAC NP_001029031.1:p.Gly292=
NM_001270447.2:c.1009_1015delinsGGAGTAC NP_001257376.1:p.Gly337=
NM_001270448.2:c.712_718delinsGGAGTAC NP_001257377.1:p.Gly238=