Canonical Allele Identifier: CA2697557231

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2695908
• ClinVar RCV Id: RCV003498101

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222692del , CM000679.2:g.7222692del	GRCh38
NC_000017.10:g.7126011del , CM000679.1:g.7126011del	GRCh37
NC_000017.9:g.7066735del	NCBI36
NG_007975.1:g.7859del
NG_008391.2:g.2359del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.904del MANE Select	ENSP00000349297.5:p.Ile302SerfsTer?
ENST00000322910.9:c.*859del	ENSP00000325395.5:n.*859del
ENST00000350303.9:c.838del	ENSP00000344152.5:p.Ile280SerfsTer?
ENST00000356839.9:c.904del	ENSP00000349297.5:p.Ile302SerfsTer?
ENST00000543245.6:c.973del	ENSP00000438689.2:p.Ile325SerfsTer?
ENST00000578824.5:n.53del
ENST00000581378.5:c.622del
ENST00000582379.1:n.288del
NM_000018.3:c.904del	NP_000009.1:p.Ile302SerfsTer?
NM_001033859.2:c.838del	NP_001029031.1:p.Ile280SerfsTer?
NM_001270447.1:c.973del	NP_001257376.1:p.Ile325SerfsTer?
NM_001270448.1:c.676del	NP_001257377.1:p.Ile226SerfsTer?
XM_006721516.2:c.904del	XP_006721579.2:p.Ile302SerfsTer?
XM_011523829.1:c.904del	XP_011522131.1:p.Ile302SerfsTer?
XM_011523830.1:c.904del	XP_011522132.1:p.Ile302SerfsTer?
XR_934021.1:n.1011del
XR_934022.1:n.1011del
XR_934023.1:n.1011del
XM_006721516.3:c.904del	XP_006721579.2:p.Ile302SerfsTer?
XM_011523829.2:c.904del	XP_011522131.1:p.Ile302SerfsTer?
XM_011523830.2:c.904del	XP_011522132.1:p.Ile302SerfsTer?
XM_024450741.1:c.904del	XP_024306509.1:p.Ile302SerfsTer?
XR_934021.2:n.963del
XR_934022.2:n.963del
XR_934023.2:n.963del
NM_000018.4:c.904del MANE Select	NP_000009.1:p.Ile302SerfsTer?
NM_001033859.3:c.838del	NP_001029031.1:p.Ile280SerfsTer?
NM_001270447.2:c.973del	NP_001257376.1:p.Ile325SerfsTer?
NM_001270448.2:c.676del	NP_001257377.1:p.Ile226SerfsTer?