Canonical Allele Identifier: CA2576148089

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223979del , CM000679.2:g.7223979del	GRCh38
NC_000017.10:g.7127298del , CM000679.1:g.7127298del	GRCh37
NC_000017.9:g.7068022del	NCBI36
NG_007975.1:g.9146del
NG_008391.2:g.1072del
NG_033038.1:g.15566del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1344del MANE Select	ENSP00000349297.5:p.Glu449SerfsTer?
ENST00000322910.9:c.*1299del	ENSP00000325395.5:n.*1299del
ENST00000350303.9:c.1278del	ENSP00000344152.5:p.Glu427SerfsTer?
ENST00000356839.9:c.1344del	ENSP00000349297.5:p.Glu449SerfsTer?
ENST00000542255.6:c.202del
ENST00000543245.6:c.1413del	ENSP00000438689.2:p.Glu472SerfsTer?
ENST00000578711.1:n.475del
ENST00000579425.5:n.460del
ENST00000579546.1:c.181del
ENST00000579894.5:n.55del
ENST00000583074.5:n.63del
ENST00000583850.5:n.119del
ENST00000583858.5:c.373del
ENST00000585203.6:n.535del
NM_000018.3:c.1344del	NP_000009.1:p.Glu449SerfsTer?
NM_001033859.2:c.1278del	NP_001029031.1:p.Glu427SerfsTer?
NM_001270447.1:c.1413del	NP_001257376.1:p.Glu472SerfsTer?
NM_001270448.1:c.1116del	NP_001257377.1:p.Glu373SerfsTer?
XM_006721516.2:c.1344del	XP_006721579.2:p.Glu449SerfsTer?
XM_011523829.1:c.1344del	XP_011522131.1:p.Glu449SerfsTer?
XM_011523830.1:c.1344del	XP_011522132.1:p.Glu449SerfsTer?
XR_934021.1:n.1451del
XR_934022.1:n.1451del
XR_934023.1:n.1451del
XM_006721516.3:c.1344del	XP_006721579.2:p.Glu449SerfsTer?
XM_011523829.2:c.1344del	XP_011522131.1:p.Glu449SerfsTer?
XM_011523830.2:c.1344del	XP_011522132.1:p.Glu449SerfsTer?
XM_024450741.1:c.1344del	XP_024306509.1:p.Glu449SerfsTer?
XR_934021.2:n.1403del
XR_934022.2:n.1403del
XR_934023.2:n.1403del
NM_000018.4:c.1344del MANE Select	NP_000009.1:p.Glu449SerfsTer?
NM_001033859.3:c.1278del	NP_001029031.1:p.Glu427SerfsTer?
NM_001270447.2:c.1413del	NP_001257376.1:p.Glu472SerfsTer?
NM_001270448.2:c.1116del	NP_001257377.1:p.Glu373SerfsTer?