Canonical Allele Identifier: CA2697559359

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2725474
• ClinVar RCV Id: RCV003499620

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224967_7224968delinsAA , CM000679.2:g.7224967_7224968delinsAA	GRCh38
NC_000017.10:g.7128286_7128287delinsAA , CM000679.1:g.7128286_7128287delinsAA	GRCh37
NC_000017.9:g.7069010_7069011delinsAA	NCBI36
NG_007975.1:g.10134_10135delinsAA
NG_008391.2:g.83_84delinsTT
NG_033038.1:g.14577_14578delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1838_1839delinsAA MANE Select	ENSP00000349297.5:p.Arg613Gln
ENST00000322910.9:c.*1793_*1794delinsAA	ENSP00000325395.5:n.*1793_*1794delinsAA
ENST00000350303.9:c.1772_1773delinsAA	ENSP00000344152.5:p.Arg591Gln
ENST00000356839.9:c.1838_1839delinsAA	ENSP00000349297.5:p.Arg613Gln
ENST00000542255.6:c.717_718delinsAA
ENST00000543245.6:c.1907_1908delinsAA	ENSP00000438689.2:p.Arg636Gln
ENST00000578033.1:n.263_264delinsAA
ENST00000578319.5:n.419_420delinsAA
ENST00000578711.1:n.1463_1464delinsAA
ENST00000578809.5:n.410_411delinsAA
ENST00000579425.5:n.954_955delinsAA
ENST00000579546.1:c.573_574delinsAA
ENST00000583848.5:c.204_205delinsAA	ENSP00000466487.1:n.204_205delinsAA
ENST00000583850.5:n.609_610delinsAA
ENST00000583858.5:c.769_770delinsAA
NM_000018.3:c.1838_1839delinsAA	NP_000009.1:p.Arg613Gln
NM_001033859.2:c.1772_1773delinsAA	NP_001029031.1:p.Arg591Gln
NM_001270447.1:c.1907_1908delinsAA	NP_001257376.1:p.Arg636Gln
NM_001270448.1:c.1610_1611delinsAA	NP_001257377.1:p.Arg537Gln
XM_006721516.2:c.1859_1860delinsAA	XP_006721579.2:p.Arg620Gln
XM_011523829.1:c.1757_1758delinsAA	XP_011522131.1:p.Arg586Gln
XM_011523830.1:c.1736_1737delinsAA	XP_011522132.1:p.Arg579Gln
XR_934021.1:n.1941_1942delinsAA
XR_934022.1:n.1847_1848delinsAA
XR_934023.1:n.1868_1869delinsAA
XM_006721516.3:c.1859_1860delinsAA	XP_006721579.2:p.Arg620Gln
XM_011523829.2:c.1757_1758delinsAA	XP_011522131.1:p.Arg586Gln
XM_011523830.2:c.1736_1737delinsAA	XP_011522132.1:p.Arg579Gln
XM_024450741.1:c.1826_1827delinsAA	XP_024306509.1:p.Arg609Gln
XR_934021.2:n.1893_1894delinsAA
XR_934022.2:n.1799_1800delinsAA
XR_934023.2:n.1820_1821delinsAA
NM_000018.4:c.1838_1839delinsAA MANE Select	NP_000009.1:p.Arg613Gln
NM_001033859.3:c.1772_1773delinsAA	NP_001029031.1:p.Arg591Gln
NM_001270447.2:c.1907_1908delinsAA	NP_001257376.1:p.Arg636Gln
NM_001270448.2:c.1610_1611delinsAA	NP_001257377.1:p.Arg537Gln