Canonical Allele Identifier: CA658658534

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 451181
• ClinVar RCV Id: RCV000522938 ; RCV003464115
• dbSNP Id: rs1555528937
• MyVariant Identifiers: chr17:g.7127805del (hg19) ; chr17:g.7224486del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224486del , CM000679.2:g.7224486del	GRCh38
NC_000017.10:g.7127805del , CM000679.1:g.7127805del	GRCh37
NC_000017.9:g.7068529del	NCBI36
NG_007975.1:g.9653del
NG_008391.2:g.565del
NG_033038.1:g.15059del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1612del MANE Select	ENSP00000349297.5:p.Arg538GlyfsTer14
ENST00000322910.9:c.*1567del	ENSP00000325395.5:n.*1567del
ENST00000350303.9:c.1546del	ENSP00000344152.5:p.Arg516GlyfsTer14
ENST00000356839.9:c.1612del	ENSP00000349297.5:p.Arg538GlyfsTer14
ENST00000542255.6:c.470del
ENST00000543245.6:c.1681del	ENSP00000438689.2:p.Arg561GlyfsTer14
ENST00000578319.5:n.193del
ENST00000578711.1:n.982del
ENST00000578809.5:n.184del
ENST00000579391.1:n.216del
ENST00000579425.5:n.728del
ENST00000579546.1:c.347del
ENST00000579894.5:n.399del
ENST00000582450.1:n.120del
ENST00000583074.5:n.233del
ENST00000583850.5:n.383del
ENST00000583858.5:c.543del
ENST00000585203.6:n.803del
NM_000018.3:c.1612del	NP_000009.1:p.Arg538GlyfsTer14
NM_001033859.2:c.1546del	NP_001029031.1:p.Arg516GlyfsTer14
NM_001270447.1:c.1681del	NP_001257376.1:p.Arg561GlyfsTer14
NM_001270448.1:c.1384del	NP_001257377.1:p.Arg462GlyfsTer14
XM_006721516.2:c.1612del	XP_006721579.2:p.Arg538GlyfsTer14
XM_011523829.1:c.1510del	XP_011522131.1:p.Arg504GlyfsTer14
XM_011523830.1:c.1510del	XP_011522132.1:p.Arg504GlyfsTer14
XR_934021.1:n.1715del
XR_934022.1:n.1621del
XR_934023.1:n.1621del
XM_006721516.3:c.1612del	XP_006721579.2:p.Arg538GlyfsTer14
XM_011523829.2:c.1510del	XP_011522131.1:p.Arg504GlyfsTer14
XM_011523830.2:c.1510del	XP_011522132.1:p.Arg504GlyfsTer14
XM_024450741.1:c.1600del	XP_024306509.1:p.Arg534GlyfsTer14
XR_934021.2:n.1667del
XR_934022.2:n.1573del
XR_934023.2:n.1573del
NM_000018.4:c.1612del MANE Select	NP_000009.1:p.Arg538GlyfsTer14
NM_001033859.3:c.1546del	NP_001029031.1:p.Arg516GlyfsTer14
NM_001270447.2:c.1681del	NP_001257376.1:p.Arg561GlyfsTer14
NM_001270448.2:c.1384del	NP_001257377.1:p.Arg462GlyfsTer14