Canonical Allele Identifier: CA2963293029

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224534_7224538del , CM000679.2:g.7224534_7224538del	GRCh38
NC_000017.10:g.7127853_7127857del , CM000679.1:g.7127853_7127857del	GRCh37
NC_000017.9:g.7068577_7068581del	NCBI36
NG_007975.1:g.9701_9705del
NG_008391.2:g.515_519del
NG_033038.1:g.15009_15013del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1660_1664del MANE Select	ENSP00000349297.5:p.His554GlufsTer6
ENST00000322910.9:c.*1615_*1619del	ENSP00000325395.5:n.*1615_*1619del
ENST00000350303.9:c.1594_1598del	ENSP00000344152.5:p.His532GlufsTer6
ENST00000356839.9:c.1660_1664del	ENSP00000349297.5:p.His554GlufsTer6
ENST00000542255.6:c.518_522del
ENST00000543245.6:c.1729_1733del	ENSP00000438689.2:p.His577GlufsTer6
ENST00000578319.5:n.241_245del
ENST00000578711.1:n.1030_1034del
ENST00000578809.5:n.232_236del
ENST00000579391.1:n.264_268del
ENST00000579425.5:n.776_780del
ENST00000579546.1:c.395_399del
ENST00000582450.1:n.168_172del
ENST00000583074.5:n.281_285del
ENST00000583848.5:c.46_50del	ENSP00000466487.1:p.His16GlufsTer28
ENST00000583850.5:n.431_435del
ENST00000583858.5:c.591_595del
ENST00000585203.6:n.851_855del
NM_000018.3:c.1660_1664del	NP_000009.1:p.His554GlufsTer6
NM_001033859.2:c.1594_1598del	NP_001029031.1:p.His532GlufsTer6
NM_001270447.1:c.1729_1733del	NP_001257376.1:p.His577GlufsTer6
NM_001270448.1:c.1432_1436del	NP_001257377.1:p.His478GlufsTer6
XM_006721516.2:c.1660_1664del	XP_006721579.2:p.His554GlufsTer6
XM_011523829.1:c.1558_1562del	XP_011522131.1:p.His520GlufsTer6
XM_011523830.1:c.1558_1562del	XP_011522132.1:p.His520GlufsTer6
XR_934021.1:n.1763_1767del
XR_934022.1:n.1669_1673del
XR_934023.1:n.1669_1673del
XM_006721516.3:c.1660_1664del	XP_006721579.2:p.His554GlufsTer6
XM_011523829.2:c.1558_1562del	XP_011522131.1:p.His520GlufsTer6
XM_011523830.2:c.1558_1562del	XP_011522132.1:p.His520GlufsTer6
XM_024450741.1:c.1648_1652del	XP_024306509.1:p.His550GlufsTer6
XR_934021.2:n.1715_1719del
XR_934022.2:n.1621_1625del
XR_934023.2:n.1621_1625del
NM_000018.4:c.1660_1664del MANE Select	NP_000009.1:p.His554GlufsTer6
NM_001033859.3:c.1594_1598del	NP_001029031.1:p.His532GlufsTer6
NM_001270447.2:c.1729_1733del	NP_001257376.1:p.His577GlufsTer6
NM_001270448.2:c.1432_1436del	NP_001257377.1:p.His478GlufsTer6