Canonical Allele Identifier: CA2245698944

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220779_7220783delinsGCAGA , CM000679.2:g.7220779_7220783delinsGCAGA	GRCh38
NC_000017.10:g.7124098_7124102delinsGCAGA , CM000679.1:g.7124098_7124102delinsGCAGA	GRCh37
NC_000017.9:g.7064822_7064826delinsGCAGA	NCBI36
NG_007975.1:g.5946_5950delinsGCAGA
NG_008391.2:g.4268_4272delinsTCTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.291_295delinsGCAGA MANE Select	ENSP00000349297.5:p.Glu97=
ENST00000322910.9:c.*246_*250delinsGCAGA	ENSP00000325395.5:n.*246_*250delinsGCAGA
ENST00000350303.9:c.225_229delinsGCAGA	ENSP00000344152.5:p.Glu75=
ENST00000356839.9:c.291_295delinsGCAGA	ENSP00000349297.5:p.Glu97=
ENST00000543245.6:c.360_364delinsGCAGA	ENSP00000438689.2:p.Glu120=
ENST00000577191.5:n.368_372delinsGCAGA
ENST00000577433.5:n.499_503delinsGCAGA
ENST00000577857.5:n.242_246delinsGCAGA
ENST00000579286.5:n.472_476delinsGCAGA
ENST00000579886.2:c.202-166_202-162delinsGCAGA	ENSP00000463246.1:n.202-166_202-162delinsGCAGA
ENST00000580365.1:n.22_26delinsGCAGA
ENST00000581562.5:n.338_342delinsGCAGA
ENST00000582056.5:n.381_385delinsGCAGA
ENST00000582166.1:n.179_183delinsGCAGA
ENST00000582356.5:n.490_494delinsGCAGA
ENST00000583312.5:c.291_295delinsGCAGA	ENSP00000467920.1:p.Glu97=
ENST00000584103.5:c.291_295delinsGCAGA	ENSP00000465353.1:p.Glu97=
NM_000018.3:c.291_295delinsGCAGA	NP_000009.1:p.Glu97=
NM_001033859.2:c.225_229delinsGCAGA	NP_001029031.1:p.Glu75=
NM_001270447.1:c.360_364delinsGCAGA	NP_001257376.1:p.Glu120=
NM_001270448.1:c.63_67delinsGCAGA	NP_001257377.1:p.Glu21=
XM_006721516.2:c.291_295delinsGCAGA	XP_006721579.2:p.Glu97=
XM_011523829.1:c.291_295delinsGCAGA	XP_011522131.1:p.Glu97=
XM_011523830.1:c.291_295delinsGCAGA	XP_011522132.1:p.Glu97=
XR_934021.1:n.398_402delinsGCAGA
XR_934022.1:n.398_402delinsGCAGA
XR_934023.1:n.398_402delinsGCAGA
XM_006721516.3:c.291_295delinsGCAGA	XP_006721579.2:p.Glu97=
XM_011523829.2:c.291_295delinsGCAGA	XP_011522131.1:p.Glu97=
XM_011523830.2:c.291_295delinsGCAGA	XP_011522132.1:p.Glu97=
XM_024450741.1:c.291_295delinsGCAGA	XP_024306509.1:p.Glu97=
XR_934021.2:n.350_354delinsGCAGA
XR_934022.2:n.350_354delinsGCAGA
XR_934023.2:n.350_354delinsGCAGA
NM_000018.4:c.291_295delinsGCAGA MANE Select	NP_000009.1:p.Glu97=
NM_001033859.3:c.225_229delinsGCAGA	NP_001029031.1:p.Glu75=
NM_001270447.2:c.360_364delinsGCAGA	NP_001257376.1:p.Glu120=
NM_001270448.2:c.63_67delinsGCAGA	NP_001257377.1:p.Glu21=