Canonical Allele Identifier: CA2245709624

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222782_7222783delinsGT , CM000679.2:g.7222782_7222783delinsGT	GRCh38
NC_000017.10:g.7126101_7126102delinsGT , CM000679.1:g.7126101_7126102delinsGT	GRCh37
NC_000017.9:g.7066825_7066826delinsGT	NCBI36
NG_007975.1:g.7949_7950delinsGT
NG_008391.2:g.2268_2269delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.994_995delinsGT MANE Select	ENSP00000349297.5:p.Val332=
ENST00000322910.9:c.*949_*950delinsGT	ENSP00000325395.5:n.*949_*950delinsGT
ENST00000350303.9:c.928_929delinsGT	ENSP00000344152.5:p.Val310=
ENST00000356839.9:c.994_995delinsGT	ENSP00000349297.5:p.Val332=
ENST00000543245.6:c.1063_1064delinsGT	ENSP00000438689.2:p.Val355=
ENST00000578824.5:n.143_144delinsGT
ENST00000581378.5:c.712_713delinsGT
ENST00000582379.1:n.378_379delinsGT
ENST00000583858.5:c.23_24delinsGT
NM_000018.3:c.994_995delinsGT	NP_000009.1:p.Val332=
NM_001033859.2:c.928_929delinsGT	NP_001029031.1:p.Val310=
NM_001270447.1:c.1063_1064delinsGT	NP_001257376.1:p.Val355=
NM_001270448.1:c.766_767delinsGT	NP_001257377.1:p.Val256=
XM_006721516.2:c.994_995delinsGT	XP_006721579.2:p.Val332=
XM_011523829.1:c.994_995delinsGT	XP_011522131.1:p.Val332=
XM_011523830.1:c.994_995delinsGT	XP_011522132.1:p.Val332=
XR_934021.1:n.1101_1102delinsGT
XR_934022.1:n.1101_1102delinsGT
XR_934023.1:n.1101_1102delinsGT
XM_006721516.3:c.994_995delinsGT	XP_006721579.2:p.Val332=
XM_011523829.2:c.994_995delinsGT	XP_011522131.1:p.Val332=
XM_011523830.2:c.994_995delinsGT	XP_011522132.1:p.Val332=
XM_024450741.1:c.994_995delinsGT	XP_024306509.1:p.Val332=
XR_934021.2:n.1053_1054delinsGT
XR_934022.2:n.1053_1054delinsGT
XR_934023.2:n.1053_1054delinsGT
NM_000018.4:c.994_995delinsGT MANE Select	NP_000009.1:p.Val332=
NM_001033859.3:c.928_929delinsGT	NP_001029031.1:p.Val310=
NM_001270447.2:c.1063_1064delinsGT	NP_001257376.1:p.Val355=
NM_001270448.2:c.766_767delinsGT	NP_001257377.1:p.Val256=