Canonical Allele Identifier: CA2245700170

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221593_7221594delinsTG , CM000679.2:g.7221593_7221594delinsTG	GRCh38
NC_000017.10:g.7124912_7124913delinsTG , CM000679.1:g.7124912_7124913delinsTG	GRCh37
NC_000017.9:g.7065636_7065637delinsTG	NCBI36
NG_007975.1:g.6760_6761delinsTG
NG_008391.2:g.3457_3458delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.533_534delinsTG MANE Select	ENSP00000349297.5:p.Leu178=
ENST00000322910.9:c.*488_*489delinsTG	ENSP00000325395.5:n.*488_*489delinsTG
ENST00000350303.9:c.467_468delinsTG	ENSP00000344152.5:p.Leu156=
ENST00000356839.9:c.533_534delinsTG	ENSP00000349297.5:p.Leu178=
ENST00000543245.6:c.602_603delinsTG	ENSP00000438689.2:p.Leu201=
ENST00000577191.5:n.610_611delinsTG
ENST00000577433.5:n.741_742delinsTG
ENST00000577857.5:n.349_350delinsTG
ENST00000579286.5:n.714_715delinsTG
ENST00000579886.2:c.371_372delinsTG	ENSP00000463246.1:p.Leu124=
ENST00000580365.1:n.264_265delinsTG
ENST00000581378.5:c.251_252delinsTG
ENST00000581562.5:n.525-359_525-358delinsTG
ENST00000582166.1:n.514_515delinsTG
ENST00000583312.5:c.533_534delinsTG	ENSP00000467920.1:p.Leu178=
ENST00000583760.1:n.315_316delinsTG
NM_000018.3:c.533_534delinsTG	NP_000009.1:p.Leu178=
NM_001033859.2:c.467_468delinsTG	NP_001029031.1:p.Leu156=
NM_001270447.1:c.602_603delinsTG	NP_001257376.1:p.Leu201=
NM_001270448.1:c.305_306delinsTG	NP_001257377.1:p.Leu102=
XM_006721516.2:c.533_534delinsTG	XP_006721579.2:p.Leu178=
XM_011523829.1:c.533_534delinsTG	XP_011522131.1:p.Leu178=
XM_011523830.1:c.533_534delinsTG	XP_011522132.1:p.Leu178=
XR_934021.1:n.640_641delinsTG
XR_934022.1:n.640_641delinsTG
XR_934023.1:n.640_641delinsTG
XM_006721516.3:c.533_534delinsTG	XP_006721579.2:p.Leu178=
XM_011523829.2:c.533_534delinsTG	XP_011522131.1:p.Leu178=
XM_011523830.2:c.533_534delinsTG	XP_011522132.1:p.Leu178=
XM_024450741.1:c.533_534delinsTG	XP_024306509.1:p.Leu178=
XR_934021.2:n.592_593delinsTG
XR_934022.2:n.592_593delinsTG
XR_934023.2:n.592_593delinsTG
NM_000018.4:c.533_534delinsTG MANE Select	NP_000009.1:p.Leu178=
NM_001033859.3:c.467_468delinsTG	NP_001029031.1:p.Leu156=
NM_001270447.2:c.602_603delinsTG	NP_001257376.1:p.Leu201=
NM_001270448.2:c.305_306delinsTG	NP_001257377.1:p.Leu102=