Canonical Allele Identifier: CA397723905

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7222676_7222677del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222676_7222677del , CM000679.2:g.7222676_7222677del	GRCh38
NC_000017.10:g.7125995_7125996del , CM000679.1:g.7125995_7125996del	GRCh37
NC_000017.9:g.7066719_7066720del	NCBI36
NG_007975.1:g.7843_7844del
NG_008391.2:g.2374_2375del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.888_889del MANE Select	ENSP00000349297.5:p.Lys298GlufsTer15
ENST00000322910.9:c.*843_*844del	ENSP00000325395.5:n.*843_*844del
ENST00000350303.9:c.822_823del	ENSP00000344152.5:p.Lys276GlufsTer15
ENST00000356839.9:c.888_889del	ENSP00000349297.5:p.Lys298GlufsTer15
ENST00000543245.6:c.957_958del	ENSP00000438689.2:p.Lys321GlufsTer15
ENST00000578824.5:n.37_38del
ENST00000581378.5:c.606_607del
ENST00000582379.1:n.272_273del
NM_000018.3:c.888_889del	NP_000009.1:p.Lys298GlufsTer15
NM_001033859.2:c.822_823del	NP_001029031.1:p.Lys276GlufsTer15
NM_001270447.1:c.957_958del	NP_001257376.1:p.Lys321GlufsTer15
NM_001270448.1:c.660_661del	NP_001257377.1:p.Lys222GlufsTer15
XM_006721516.2:c.888_889del	XP_006721579.2:p.Lys298GlufsTer15
XM_011523829.1:c.888_889del	XP_011522131.1:p.Lys298GlufsTer15
XM_011523830.1:c.888_889del	XP_011522132.1:p.Lys298GlufsTer15
XR_934021.1:n.995_996del
XR_934022.1:n.995_996del
XR_934023.1:n.995_996del
XM_006721516.3:c.888_889del	XP_006721579.2:p.Lys298GlufsTer15
XM_011523829.2:c.888_889del	XP_011522131.1:p.Lys298GlufsTer15
XM_011523830.2:c.888_889del	XP_011522132.1:p.Lys298GlufsTer15
XM_024450741.1:c.888_889del	XP_024306509.1:p.Lys298GlufsTer15
XR_934021.2:n.947_948del
XR_934022.2:n.947_948del
XR_934023.2:n.947_948del
NM_000018.4:c.888_889del MANE Select	NP_000009.1:p.Lys298GlufsTer15
NM_001033859.3:c.822_823del	NP_001029031.1:p.Lys276GlufsTer15
NM_001270447.2:c.957_958del	NP_001257376.1:p.Lys321GlufsTer15
NM_001270448.2:c.660_661del	NP_001257377.1:p.Lys222GlufsTer15