Canonical Allele Identifier: CA2245716080

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224972_7224974delinsCGA , CM000679.2:g.7224972_7224974delinsCGA	GRCh38
NC_000017.10:g.7128291_7128293delinsCGA , CM000679.1:g.7128291_7128293delinsCGA	GRCh37
NC_000017.9:g.7069015_7069017delinsCGA	NCBI36
NG_007975.1:g.10139_10141delinsCGA
NG_008391.2:g.77_79delinsTCG
NG_033038.1:g.14571_14573delinsTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1843_1845delinsCGA MANE Select	ENSP00000349297.5:p.Arg615=
ENST00000322910.9:c.*1798_*1800delinsCGA	ENSP00000325395.5:n.*1798_*1800delinsCGA
ENST00000350303.9:c.1777_1779delinsCGA	ENSP00000344152.5:p.Arg593=
ENST00000356839.9:c.1843_1845delinsCGA	ENSP00000349297.5:p.Arg615=
ENST00000542255.6:c.722_724delinsCGA
ENST00000543245.6:c.1912_1914delinsCGA	ENSP00000438689.2:p.Arg638=
ENST00000578033.1:n.268_270delinsCGA
ENST00000578319.5:n.424_426delinsCGA
ENST00000578711.1:n.1468_1470delinsCGA
ENST00000578809.5:n.415_417delinsCGA
ENST00000579425.5:n.959_961delinsCGA
ENST00000579546.1:c.578_580delinsCGA
ENST00000583848.5:c.209_211delinsCGA	ENSP00000466487.1:n.209_211delinsCGA
ENST00000583850.5:n.614_616delinsCGA
ENST00000583858.5:c.774_776delinsCGA
NM_000018.3:c.1843_1845delinsCGA	NP_000009.1:p.Arg615=
NM_001033859.2:c.1777_1779delinsCGA	NP_001029031.1:p.Arg593=
NM_001270447.1:c.1912_1914delinsCGA	NP_001257376.1:p.Arg638=
NM_001270448.1:c.1615_1617delinsCGA	NP_001257377.1:p.Arg539=
XM_006721516.2:c.1864_1866delinsCGA	XP_006721579.2:p.Arg622=
XM_011523829.1:c.1762_1764delinsCGA	XP_011522131.1:p.Arg588=
XM_011523830.1:c.1741_1743delinsCGA	XP_011522132.1:p.Arg581=
XR_934021.1:n.1946_1948delinsCGA
XR_934022.1:n.1852_1854delinsCGA
XR_934023.1:n.1873_1875delinsCGA
XM_006721516.3:c.1864_1866delinsCGA	XP_006721579.2:p.Arg622=
XM_011523829.2:c.1762_1764delinsCGA	XP_011522131.1:p.Arg588=
XM_011523830.2:c.1741_1743delinsCGA	XP_011522132.1:p.Arg581=
XM_024450741.1:c.1831_1833delinsCGA	XP_024306509.1:p.Arg611=
XR_934021.2:n.1898_1900delinsCGA
XR_934022.2:n.1804_1806delinsCGA
XR_934023.2:n.1825_1827delinsCGA
NM_000018.4:c.1843_1845delinsCGA MANE Select	NP_000009.1:p.Arg615=
NM_001033859.3:c.1777_1779delinsCGA	NP_001029031.1:p.Arg593=
NM_001270447.2:c.1912_1914delinsCGA	NP_001257376.1:p.Arg638=
NM_001270448.2:c.1615_1617delinsCGA	NP_001257377.1:p.Arg539=