Canonical Allele Identifier: CA497694556

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 811520
• ClinVar RCV Id: RCV001001435
• dbSNP Id: rs1597541142
• MyVariant Identifiers: chr17:g.7128330delC (hg19)
• ERepo: CA497694556/MONDO:0008723/021

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225011del , CM000679.2:g.7225011del	GRCh38
NC_000017.10:g.7128330del , CM000679.1:g.7128330del	GRCh37
NC_000017.9:g.7069054del	NCBI36
NG_007975.1:g.10178del
NG_008391.2:g.40del
NG_033038.1:g.14534del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1882del MANE Select	ENSP00000349297.5:p.Gln628LysfsTer?
ENST00000322910.9:c.*1837del	ENSP00000325395.5:n.*1837del
ENST00000350303.9:c.1816del	ENSP00000344152.5:p.Gln606LysfsTer?
ENST00000356839.9:c.1882del	ENSP00000349297.5:p.Gln628LysfsTer?
ENST00000542255.6:c.761del
ENST00000543245.6:c.1951del	ENSP00000438689.2:p.Gln651LysfsTer?
ENST00000578033.1:n.307del
ENST00000578319.5:n.463del
ENST00000578711.1:n.1507del
ENST00000578809.5:n.454del
ENST00000579425.5:n.998del
ENST00000583848.5:c.248del	ENSP00000466487.1:n.248del
ENST00000583850.5:n.653del
ENST00000583858.5:c.813del
NM_000018.3:c.1882del	NP_000009.1:p.Gln628LysfsTer?
NM_001033859.2:c.1816del	NP_001029031.1:p.Gln606LysfsTer?
NM_001270447.1:c.1951del	NP_001257376.1:p.Gln651LysfsTer?
NM_001270448.1:c.1654del	NP_001257377.1:p.Gln552LysfsTer?
XM_006721516.2:c.1903del	XP_006721579.2:p.Gln635LysfsTer?
XM_011523829.1:c.1801del	XP_011522131.1:p.Gln601LysfsTer?
XM_011523830.1:c.1780del	XP_011522132.1:p.Gln594LysfsTer?
XR_934021.1:n.1985del
XR_934022.1:n.1891del
XR_934023.1:n.1912del
XM_006721516.3:c.1903del	XP_006721579.2:p.Gln635LysfsTer?
XM_011523829.2:c.1801del	XP_011522131.1:p.Gln601LysfsTer?
XM_011523830.2:c.1780del	XP_011522132.1:p.Gln594LysfsTer?
XM_024450741.1:c.1870del	XP_024306509.1:p.Gln624LysfsTer?
XR_934021.2:n.1937del
XR_934022.2:n.1843del
XR_934023.2:n.1864del
NM_000018.4:c.1882del MANE Select	NP_000009.1:p.Gln628LysfsTer?
NM_001033859.3:c.1816del	NP_001029031.1:p.Gln606LysfsTer?
NM_001270447.2:c.1951del	NP_001257376.1:p.Gln651LysfsTer?
NM_001270448.2:c.1654del	NP_001257377.1:p.Gln552LysfsTer?