Canonical Allele Identifier: CA2245716629

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225096_7225097delinsGA , CM000679.2:g.7225096_7225097delinsGA	GRCh38
NC_000017.10:g.7128415_7128416delinsGA , CM000679.1:g.7128415_7128416delinsGA	GRCh37
NC_000017.9:g.7069139_7069140delinsGA	NCBI36
NG_007975.1:g.10263_10264delinsGA
NG_033038.1:g.14448_14449delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1967_1968delinsGA MANE Select	ENSP00000349297.5:p.Ter656=
ENST00000322910.9:c.*1922_*1923delinsGA	ENSP00000325395.5:n.*1922_*1923delinsGA
ENST00000350303.9:c.1901_1902delinsGA	ENSP00000344152.5:p.Ter634=
ENST00000356839.9:c.1967_1968delinsGA	ENSP00000349297.5:p.Ter656=
ENST00000542255.6:c.846_847delinsGA
ENST00000543245.6:c.2036_2037delinsGA	ENSP00000438689.2:p.Ter679=
ENST00000578033.1:n.392_393delinsGA
ENST00000578319.5:n.548_549delinsGA
ENST00000578711.1:n.1592_1593delinsGA
ENST00000578809.5:n.539_540delinsGA
ENST00000579425.5:n.1083_1084delinsGA
ENST00000583848.5:c.333_334delinsGA	ENSP00000466487.1:n.333_334delinsGA
ENST00000583850.5:n.738_739delinsGA
ENST00000583858.5:c.898_899delinsGA
NM_000018.3:c.1967_1968delinsGA	NP_000009.1:p.Ter656=
NM_001033859.2:c.1901_1902delinsGA	NP_001029031.1:p.Ter634=
NM_001270447.1:c.2036_2037delinsGA	NP_001257376.1:p.Ter679=
NM_001270448.1:c.1739_1740delinsGA	NP_001257377.1:p.Ter580=
XM_006721516.2:c.1988_1989delinsGA	XP_006721579.2:p.Ter663=
XM_011523829.1:c.1886_1887delinsGA	XP_011522131.1:p.Ter629=
XM_011523830.1:c.1865_1866delinsGA	XP_011522132.1:p.Ter622=
XR_934021.1:n.2070_2071delinsGA
XR_934022.1:n.1976_1977delinsGA
XR_934023.1:n.1997_1998delinsGA
XM_006721516.3:c.1988_1989delinsGA	XP_006721579.2:p.Ter663=
XM_011523829.2:c.1886_1887delinsGA	XP_011522131.1:p.Ter629=
XM_011523830.2:c.1865_1866delinsGA	XP_011522132.1:p.Ter622=
XM_024450741.1:c.1955_1956delinsGA	XP_024306509.1:p.Ter652=
XR_934021.2:n.2022_2023delinsGA
XR_934022.2:n.1928_1929delinsGA
XR_934023.2:n.1949_1950delinsGA
NM_000018.4:c.1967_1968delinsGA MANE Select	NP_000009.1:p.Ter656=
NM_001033859.3:c.1901_1902delinsGA	NP_001029031.1:p.Ter634=
NM_001270447.2:c.2036_2037delinsGA	NP_001257376.1:p.Ter679=
NM_001270448.2:c.1739_1740delinsGA	NP_001257377.1:p.Ter580=