Canonical Allele Identifier: CA2245709905

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222843_7222845delinsTGA , CM000679.2:g.7222843_7222845delinsTGA	GRCh38
NC_000017.10:g.7126162_7126164delinsTGA , CM000679.1:g.7126162_7126164delinsTGA	GRCh37
NC_000017.9:g.7066886_7066888delinsTGA	NCBI36
NG_007975.1:g.8010_8012delinsTGA
NG_008391.2:g.2206_2208delinsTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1055_1057delinsTGA MANE Select	ENSP00000349297.5:p.Met352=
ENST00000322910.9:c.*1010_*1012delinsTGA	ENSP00000325395.5:n.*1010_*1012delinsTGA
ENST00000350303.9:c.989_991delinsTGA	ENSP00000344152.5:p.Met330=
ENST00000356839.9:c.1055_1057delinsTGA	ENSP00000349297.5:p.Met352=
ENST00000543245.6:c.1124_1126delinsTGA	ENSP00000438689.2:p.Met375=
ENST00000578824.5:n.204_206delinsTGA
ENST00000582379.1:n.439_441delinsTGA
ENST00000583858.5:c.84_86delinsTGA
NM_000018.3:c.1055_1057delinsTGA	NP_000009.1:p.Met352=
NM_001033859.2:c.989_991delinsTGA	NP_001029031.1:p.Met330=
NM_001270447.1:c.1124_1126delinsTGA	NP_001257376.1:p.Met375=
NM_001270448.1:c.827_829delinsTGA	NP_001257377.1:p.Met276=
XM_006721516.2:c.1055_1057delinsTGA	XP_006721579.2:p.Met352=
XM_011523829.1:c.1055_1057delinsTGA	XP_011522131.1:p.Met352=
XM_011523830.1:c.1055_1057delinsTGA	XP_011522132.1:p.Met352=
XR_934021.1:n.1162_1164delinsTGA
XR_934022.1:n.1162_1164delinsTGA
XR_934023.1:n.1162_1164delinsTGA
XM_006721516.3:c.1055_1057delinsTGA	XP_006721579.2:p.Met352=
XM_011523829.2:c.1055_1057delinsTGA	XP_011522131.1:p.Met352=
XM_011523830.2:c.1055_1057delinsTGA	XP_011522132.1:p.Met352=
XM_024450741.1:c.1055_1057delinsTGA	XP_024306509.1:p.Met352=
XR_934021.2:n.1114_1116delinsTGA
XR_934022.2:n.1114_1116delinsTGA
XR_934023.2:n.1114_1116delinsTGA
NM_000018.4:c.1055_1057delinsTGA MANE Select	NP_000009.1:p.Met352=
NM_001033859.3:c.989_991delinsTGA	NP_001029031.1:p.Met330=
NM_001270447.2:c.1124_1126delinsTGA	NP_001257376.1:p.Met375=
NM_001270448.2:c.827_829delinsTGA	NP_001257377.1:p.Met276=