Canonical Allele Identifier: CA913186033

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223157del , CM000679.2:g.7223157del	GRCh38
NC_000017.10:g.7126476del , CM000679.1:g.7126476del	GRCh37
NC_000017.9:g.7067200del	NCBI36
NG_007975.1:g.8324del
NG_008391.2:g.1896del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1102del MANE Select	ENSP00000349297.5:p.Gln368SerfsTer11
ENST00000322910.9:c.*1057del	ENSP00000325395.5:n.*1057del
ENST00000350303.9:c.1036del	ENSP00000344152.5:p.Gln346SerfsTer11
ENST00000356839.9:c.1102del	ENSP00000349297.5:p.Gln368SerfsTer11
ENST00000543245.6:c.1171del	ENSP00000438689.2:p.Gln391SerfsTer11
ENST00000578579.2:n.51del
ENST00000578824.5:n.518del
ENST00000579425.5:n.126del
ENST00000582379.1:n.753del
ENST00000583858.5:c.131del
ENST00000585203.6:n.310del
NM_000018.3:c.1102del	NP_000009.1:p.Gln368SerfsTer11
NM_001033859.2:c.1036del	NP_001029031.1:p.Gln346SerfsTer11
NM_001270447.1:c.1171del	NP_001257376.1:p.Gln391SerfsTer11
NM_001270448.1:c.874del	NP_001257377.1:p.Gln292SerfsTer11
XM_006721516.2:c.1102del	XP_006721579.2:p.Gln368SerfsTer11
XM_011523829.1:c.1102del	XP_011522131.1:p.Gln368SerfsTer11
XM_011523830.1:c.1102del	XP_011522132.1:p.Gln368SerfsTer11
XR_934021.1:n.1209del
XR_934022.1:n.1209del
XR_934023.1:n.1209del
XM_006721516.3:c.1102del	XP_006721579.2:p.Gln368SerfsTer11
XM_011523829.2:c.1102del	XP_011522131.1:p.Gln368SerfsTer11
XM_011523830.2:c.1102del	XP_011522132.1:p.Gln368SerfsTer11
XM_024450741.1:c.1102del	XP_024306509.1:p.Gln368SerfsTer11
XR_934021.2:n.1161del
XR_934022.2:n.1161del
XR_934023.2:n.1161del
NM_000018.4:c.1102del MANE Select	NP_000009.1:p.Gln368SerfsTer11
NM_001033859.3:c.1036del	NP_001029031.1:p.Gln346SerfsTer11
NM_001270447.2:c.1171del	NP_001257376.1:p.Gln391SerfsTer11
NM_001270448.2:c.874del	NP_001257377.1:p.Gln292SerfsTer11