Canonical Allele Identifier: CA2245701479
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222276_7222278delinsGGA , CM000679.2:g.7222276_7222278delinsGGA GRCh38
NC_000017.10:g.7125595_7125597delinsGGA , CM000679.1:g.7125595_7125597delinsGGA GRCh37
NC_000017.9:g.7066319_7066321delinsGGA NCBI36
NG_007975.1:g.7443_7445delinsGGA
NG_008391.2:g.2773_2775delinsTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.852_854delinsGGA MANE Select ENSP00000349297.5:p.Val284=
ENST00000322910.9:c.*807_*809delinsGGA ENSP00000325395.5:n.*807_*809delinsGGA
ENST00000350303.9:c.786_788delinsGGA ENSP00000344152.5:p.Val262=
ENST00000356839.9:c.852_854delinsGGA ENSP00000349297.5:p.Val284=
ENST00000543245.6:c.921_923delinsGGA ENSP00000438689.2:p.Val307=
ENST00000577191.5:n.1024_1026delinsGGA
ENST00000581378.5:c.570_572delinsGGA
ENST00000582379.1:n.236_238delinsGGA
NM_000018.3:c.852_854delinsGGA NP_000009.1:p.Val284=
NM_001033859.2:c.786_788delinsGGA NP_001029031.1:p.Val262=
NM_001270447.1:c.921_923delinsGGA NP_001257376.1:p.Val307=
NM_001270448.1:c.624_626delinsGGA NP_001257377.1:p.Val208=
XM_006721516.2:c.852_854delinsGGA XP_006721579.2:p.Val284=
XM_011523829.1:c.852_854delinsGGA XP_011522131.1:p.Val284=
XM_011523830.1:c.852_854delinsGGA XP_011522132.1:p.Val284=
XR_934021.1:n.959_961delinsGGA
XR_934022.1:n.959_961delinsGGA
XR_934023.1:n.959_961delinsGGA
XM_006721516.3:c.852_854delinsGGA XP_006721579.2:p.Val284=
XM_011523829.2:c.852_854delinsGGA XP_011522131.1:p.Val284=
XM_011523830.2:c.852_854delinsGGA XP_011522132.1:p.Val284=
XM_024450741.1:c.852_854delinsGGA XP_024306509.1:p.Val284=
XR_934021.2:n.911_913delinsGGA
XR_934022.2:n.911_913delinsGGA
XR_934023.2:n.911_913delinsGGA
NM_000018.4:c.852_854delinsGGA MANE Select NP_000009.1:p.Val284=
NM_001033859.3:c.786_788delinsGGA NP_001029031.1:p.Val262=
NM_001270447.2:c.921_923delinsGGA NP_001257376.1:p.Val307=
NM_001270448.2:c.624_626delinsGGA NP_001257377.1:p.Val208=