Canonical Allele Identifier: CA2245716190

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224997_7225000delinsCTGA , CM000679.2:g.7224997_7225000delinsCTGA	GRCh38
NC_000017.10:g.7128316_7128319delinsCTGA , CM000679.1:g.7128316_7128319delinsCTGA	GRCh37
NC_000017.9:g.7069040_7069043delinsCTGA	NCBI36
NG_007975.1:g.10164_10167delinsCTGA
NG_008391.2:g.51_54delinsTCAG
NG_033038.1:g.14545_14548delinsTCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1868_1871delinsCTGA MANE Select	ENSP00000349297.5:p.Ser623=
ENST00000322910.9:c.*1823_*1826delinsCTGA	ENSP00000325395.5:n.*1823_*1826delinsCTGA
ENST00000350303.9:c.1802_1805delinsCTGA	ENSP00000344152.5:p.Ser601=
ENST00000356839.9:c.1868_1871delinsCTGA	ENSP00000349297.5:p.Ser623=
ENST00000542255.6:c.747_750delinsCTGA
ENST00000543245.6:c.1937_1940delinsCTGA	ENSP00000438689.2:p.Ser646=
ENST00000578033.1:n.293_296delinsCTGA
ENST00000578319.5:n.449_452delinsCTGA
ENST00000578711.1:n.1493_1496delinsCTGA
ENST00000578809.5:n.440_443delinsCTGA
ENST00000579425.5:n.984_987delinsCTGA
ENST00000583848.5:c.234_237delinsCTGA	ENSP00000466487.1:n.234_237delinsCTGA
ENST00000583850.5:n.639_642delinsCTGA
ENST00000583858.5:c.799_802delinsCTGA
NM_000018.3:c.1868_1871delinsCTGA	NP_000009.1:p.Ser623=
NM_001033859.2:c.1802_1805delinsCTGA	NP_001029031.1:p.Ser601=
NM_001270447.1:c.1937_1940delinsCTGA	NP_001257376.1:p.Ser646=
NM_001270448.1:c.1640_1643delinsCTGA	NP_001257377.1:p.Ser547=
XM_006721516.2:c.1889_1892delinsCTGA	XP_006721579.2:p.Ser630=
XM_011523829.1:c.1787_1790delinsCTGA	XP_011522131.1:p.Ser596=
XM_011523830.1:c.1766_1769delinsCTGA	XP_011522132.1:p.Ser589=
XR_934021.1:n.1971_1974delinsCTGA
XR_934022.1:n.1877_1880delinsCTGA
XR_934023.1:n.1898_1901delinsCTGA
XM_006721516.3:c.1889_1892delinsCTGA	XP_006721579.2:p.Ser630=
XM_011523829.2:c.1787_1790delinsCTGA	XP_011522131.1:p.Ser596=
XM_011523830.2:c.1766_1769delinsCTGA	XP_011522132.1:p.Ser589=
XM_024450741.1:c.1856_1859delinsCTGA	XP_024306509.1:p.Ser619=
XR_934021.2:n.1923_1926delinsCTGA
XR_934022.2:n.1829_1832delinsCTGA
XR_934023.2:n.1850_1853delinsCTGA
NM_000018.4:c.1868_1871delinsCTGA MANE Select	NP_000009.1:p.Ser623=
NM_001033859.3:c.1802_1805delinsCTGA	NP_001029031.1:p.Ser601=
NM_001270447.2:c.1937_1940delinsCTGA	NP_001257376.1:p.Ser646=
NM_001270448.2:c.1640_1643delinsCTGA	NP_001257377.1:p.Ser547=