Canonical Allele Identifier: CA2831039568

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224964_7224989delinsG , CM000679.2:g.7224964_7224989delinsG	GRCh38
NC_000017.10:g.7128283_7128308delinsG , CM000679.1:g.7128283_7128308delinsG	GRCh37
NC_000017.9:g.7069007_7069032delinsG	NCBI36
NG_007975.1:g.10131_10156delinsG
NG_008391.2:g.62_87delinsC
NG_033038.1:g.14556_14581delinsC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1835_1860delinsG MANE Select	ENSP00000349297.5:p.Ala612GlyfsTer?
ENST00000322910.9:c.*1790_*1815delinsG	ENSP00000325395.5:n.*1790_*1815delinsG
ENST00000350303.9:c.1769_1794delinsG	ENSP00000344152.5:p.Ala590GlyfsTer?
ENST00000356839.9:c.1835_1860delinsG	ENSP00000349297.5:p.Ala612GlyfsTer?
ENST00000542255.6:c.714_739delinsG
ENST00000543245.6:c.1904_1929delinsG	ENSP00000438689.2:p.Ala635GlyfsTer?
ENST00000578033.1:n.260_285delinsG
ENST00000578319.5:n.416_441delinsG
ENST00000578711.1:n.1460_1485delinsG
ENST00000578809.5:n.407_432delinsG
ENST00000579425.5:n.951_976delinsG
ENST00000583848.5:c.201_226delinsG	ENSP00000466487.1:n.201_226delinsG
ENST00000583850.5:n.606_631delinsG
ENST00000583858.5:c.766_791delinsG
NM_000018.3:c.1835_1860delinsG	NP_000009.1:p.Ala612GlyfsTer?
NM_001033859.2:c.1769_1794delinsG	NP_001029031.1:p.Ala590GlyfsTer?
NM_001270447.1:c.1904_1929delinsG	NP_001257376.1:p.Ala635GlyfsTer?
NM_001270448.1:c.1607_1632delinsG	NP_001257377.1:p.Ala536GlyfsTer?
XM_006721516.2:c.1856_1881delinsG	XP_006721579.2:p.Ala619GlyfsTer?
XM_011523829.1:c.1754_1779delinsG	XP_011522131.1:p.Ala585GlyfsTer?
XM_011523830.1:c.1733_1758delinsG	XP_011522132.1:p.Ala578GlyfsTer?
XR_934021.1:n.1938_1963delinsG
XR_934022.1:n.1844_1869delinsG
XR_934023.1:n.1865_1890delinsG
XM_006721516.3:c.1856_1881delinsG	XP_006721579.2:p.Ala619GlyfsTer?
XM_011523829.2:c.1754_1779delinsG	XP_011522131.1:p.Ala585GlyfsTer?
XM_011523830.2:c.1733_1758delinsG	XP_011522132.1:p.Ala578GlyfsTer?
XM_024450741.1:c.1823_1848delinsG	XP_024306509.1:p.Ala608GlyfsTer?
XR_934021.2:n.1890_1915delinsG
XR_934022.2:n.1796_1821delinsG
XR_934023.2:n.1817_1842delinsG
NM_000018.4:c.1835_1860delinsG MANE Select	NP_000009.1:p.Ala612GlyfsTer?
NM_001033859.3:c.1769_1794delinsG	NP_001029031.1:p.Ala590GlyfsTer?
NM_001270447.2:c.1904_1929delinsG	NP_001257376.1:p.Ala635GlyfsTer?
NM_001270448.2:c.1607_1632delinsG	NP_001257377.1:p.Ala536GlyfsTer?