Canonical Allele Identifier: CA645595052

Gene: ACADVL

Linked Data

• COSMIC: COSM3734141

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225057_7225061dup , CM000679.2:g.7225057_7225061dup	GRCh38
NC_000017.10:g.7128376_7128380dup , CM000679.1:g.7128376_7128380dup	GRCh37
NC_000017.9:g.7069100_7069104dup	NCBI36
NG_007975.1:g.10224_10228dup
NG_033038.1:g.14486_14490dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1928_1932dup MANE Select	ENSP00000349297.5:p.Gly645SerfsTer?
ENST00000322910.9:c.*1883_*1887dup	ENSP00000325395.5:n.*1883_*1887dup
ENST00000350303.9:c.1862_1866dup	ENSP00000344152.5:p.Gly623SerfsTer?
ENST00000356839.9:c.1928_1932dup	ENSP00000349297.5:p.Gly645SerfsTer?
ENST00000542255.6:c.807_811dup
ENST00000543245.6:c.1997_2001dup	ENSP00000438689.2:p.Gly668SerfsTer?
ENST00000578033.1:n.353_357dup
ENST00000578319.5:n.509_513dup
ENST00000578711.1:n.1553_1557dup
ENST00000578809.5:n.500_504dup
ENST00000579425.5:n.1044_1048dup
ENST00000583848.5:c.294_298dup	ENSP00000466487.1:n.294_298dup
ENST00000583850.5:n.699_703dup
ENST00000583858.5:c.859_863dup
NM_000018.3:c.1928_1932dup	NP_000009.1:p.Gly645SerfsTer?
NM_001033859.2:c.1862_1866dup	NP_001029031.1:p.Gly623SerfsTer?
NM_001270447.1:c.1997_2001dup	NP_001257376.1:p.Gly668SerfsTer?
NM_001270448.1:c.1700_1704dup	NP_001257377.1:p.Gly569SerfsTer?
XM_006721516.2:c.1949_1953dup	XP_006721579.2:p.Gly652SerfsTer?
XM_011523829.1:c.1847_1851dup	XP_011522131.1:p.Gly618SerfsTer?
XM_011523830.1:c.1826_1830dup	XP_011522132.1:p.Gly611SerfsTer?
XR_934021.1:n.2031_2035dup
XR_934022.1:n.1937_1941dup
XR_934023.1:n.1958_1962dup
XM_006721516.3:c.1949_1953dup	XP_006721579.2:p.Gly652SerfsTer?
XM_011523829.2:c.1847_1851dup	XP_011522131.1:p.Gly618SerfsTer?
XM_011523830.2:c.1826_1830dup	XP_011522132.1:p.Gly611SerfsTer?
XM_024450741.1:c.1916_1920dup	XP_024306509.1:p.Gly641SerfsTer?
XR_934021.2:n.1983_1987dup
XR_934022.2:n.1889_1893dup
XR_934023.2:n.1910_1914dup
NM_000018.4:c.1928_1932dup MANE Select	NP_000009.1:p.Gly645SerfsTer?
NM_001033859.3:c.1862_1866dup	NP_001029031.1:p.Gly623SerfsTer?
NM_001270447.2:c.1997_2001dup	NP_001257376.1:p.Gly668SerfsTer?
NM_001270448.2:c.1700_1704dup	NP_001257377.1:p.Gly569SerfsTer?