Canonical Allele Identifier: CA2245716252

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225010_7225011delinsGC , CM000679.2:g.7225010_7225011delinsGC	GRCh38
NC_000017.10:g.7128329_7128330delinsGC , CM000679.1:g.7128329_7128330delinsGC	GRCh37
NC_000017.9:g.7069053_7069054delinsGC	NCBI36
NG_007975.1:g.10177_10178delinsGC
NG_008391.2:g.40_41delinsGC
NG_033038.1:g.14534_14535delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1881_1882delinsGC MANE Select	ENSP00000349297.5:p.Gln627=
ENST00000322910.9:c.*1836_*1837delinsGC	ENSP00000325395.5:n.*1836_*1837delinsGC
ENST00000350303.9:c.1815_1816delinsGC	ENSP00000344152.5:p.Gln605=
ENST00000356839.9:c.1881_1882delinsGC	ENSP00000349297.5:p.Gln627=
ENST00000542255.6:c.760_761delinsGC
ENST00000543245.6:c.1950_1951delinsGC	ENSP00000438689.2:p.Gln650=
ENST00000578033.1:n.306_307delinsGC
ENST00000578319.5:n.462_463delinsGC
ENST00000578711.1:n.1506_1507delinsGC
ENST00000578809.5:n.453_454delinsGC
ENST00000579425.5:n.997_998delinsGC
ENST00000583848.5:c.247_248delinsGC	ENSP00000466487.1:n.247_248delinsGC
ENST00000583850.5:n.652_653delinsGC
ENST00000583858.5:c.812_813delinsGC
NM_000018.3:c.1881_1882delinsGC	NP_000009.1:p.Gln627=
NM_001033859.2:c.1815_1816delinsGC	NP_001029031.1:p.Gln605=
NM_001270447.1:c.1950_1951delinsGC	NP_001257376.1:p.Gln650=
NM_001270448.1:c.1653_1654delinsGC	NP_001257377.1:p.Gln551=
XM_006721516.2:c.1902_1903delinsGC	XP_006721579.2:p.Gln634=
XM_011523829.1:c.1800_1801delinsGC	XP_011522131.1:p.Gln600=
XM_011523830.1:c.1779_1780delinsGC	XP_011522132.1:p.Gln593=
XR_934021.1:n.1984_1985delinsGC
XR_934022.1:n.1890_1891delinsGC
XR_934023.1:n.1911_1912delinsGC
XM_006721516.3:c.1902_1903delinsGC	XP_006721579.2:p.Gln634=
XM_011523829.2:c.1800_1801delinsGC	XP_011522131.1:p.Gln600=
XM_011523830.2:c.1779_1780delinsGC	XP_011522132.1:p.Gln593=
XM_024450741.1:c.1869_1870delinsGC	XP_024306509.1:p.Gln623=
XR_934021.2:n.1936_1937delinsGC
XR_934022.2:n.1842_1843delinsGC
XR_934023.2:n.1863_1864delinsGC
NM_000018.4:c.1881_1882delinsGC MANE Select	NP_000009.1:p.Gln627=
NM_001033859.3:c.1815_1816delinsGC	NP_001029031.1:p.Gln605=
NM_001270447.2:c.1950_1951delinsGC	NP_001257376.1:p.Gln650=
NM_001270448.2:c.1653_1654delinsGC	NP_001257377.1:p.Gln551=