Canonical Allele Identifier: CA2963293031

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224536_7224537del , CM000679.2:g.7224536_7224537del	GRCh38
NC_000017.10:g.7127855_7127856del , CM000679.1:g.7127855_7127856del	GRCh37
NC_000017.9:g.7068579_7068580del	NCBI36
NG_007975.1:g.9703_9704del
NG_008391.2:g.517_518del
NG_033038.1:g.15011_15012del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1662_1663del MANE Select	ENSP00000349297.5:p.His554GlnfsTer7
ENST00000322910.9:c.*1617_*1618del	ENSP00000325395.5:n.*1617_*1618del
ENST00000350303.9:c.1596_1597del	ENSP00000344152.5:p.His532GlnfsTer7
ENST00000356839.9:c.1662_1663del	ENSP00000349297.5:p.His554GlnfsTer7
ENST00000542255.6:c.520_521del
ENST00000543245.6:c.1731_1732del	ENSP00000438689.2:p.His577GlnfsTer7
ENST00000578319.5:n.243_244del
ENST00000578711.1:n.1032_1033del
ENST00000578809.5:n.234_235del
ENST00000579391.1:n.266_267del
ENST00000579425.5:n.778_779del
ENST00000579546.1:c.397_398del
ENST00000582450.1:n.170_171del
ENST00000583074.5:n.283_284del
ENST00000583848.5:c.48_49del	ENSP00000466487.1:p.His16GlnfsTer29
ENST00000583850.5:n.433_434del
ENST00000583858.5:c.593_594del
ENST00000585203.6:n.853_854del
NM_000018.3:c.1662_1663del	NP_000009.1:p.His554GlnfsTer7
NM_001033859.2:c.1596_1597del	NP_001029031.1:p.His532GlnfsTer7
NM_001270447.1:c.1731_1732del	NP_001257376.1:p.His577GlnfsTer7
NM_001270448.1:c.1434_1435del	NP_001257377.1:p.His478GlnfsTer7
XM_006721516.2:c.1662_1663del	XP_006721579.2:p.His554GlnfsTer7
XM_011523829.1:c.1560_1561del	XP_011522131.1:p.His520GlnfsTer7
XM_011523830.1:c.1560_1561del	XP_011522132.1:p.His520GlnfsTer7
XR_934021.1:n.1765_1766del
XR_934022.1:n.1671_1672del
XR_934023.1:n.1671_1672del
XM_006721516.3:c.1662_1663del	XP_006721579.2:p.His554GlnfsTer7
XM_011523829.2:c.1560_1561del	XP_011522131.1:p.His520GlnfsTer7
XM_011523830.2:c.1560_1561del	XP_011522132.1:p.His520GlnfsTer7
XM_024450741.1:c.1650_1651del	XP_024306509.1:p.His550GlnfsTer7
XR_934021.2:n.1717_1718del
XR_934022.2:n.1623_1624del
XR_934023.2:n.1623_1624del
NM_000018.4:c.1662_1663del MANE Select	NP_000009.1:p.His554GlnfsTer7
NM_001033859.3:c.1596_1597del	NP_001029031.1:p.His532GlnfsTer7
NM_001270447.2:c.1731_1732del	NP_001257376.1:p.His577GlnfsTer7
NM_001270448.2:c.1434_1435del	NP_001257377.1:p.His478GlnfsTer7