Canonical Allele Identifier: CA2573050270

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221420_7221437delinsCACTGCCCTAGGTCAGGA , CM000679.2:g.7221420_7221437delinsCACTGCCCTAGGTCAGGA	GRCh38
NC_000017.10:g.7124739_7124756delinsCACTGCCCTAGGTCAGGA , CM000679.1:g.7124739_7124756delinsCACTGCCCTAGGTCAGGA	GRCh37
NC_000017.9:g.7065463_7065480delinsCACTGCCCTAGGTCAGGA	NCBI36
NG_007975.1:g.6587_6604delinsCACTGCCCTAGGTCAGGA
NG_008391.2:g.3614_3631delinsTCCTGACCTAGGGCAGTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.478-118_478-101delinsCACTGCCCTAGGTCAGGA MANE Select	ENSP00000349297.5:n.478-118_478-101delins...
ENST00000322910.9:c.*433-118_*433-101delinsCACTGCCCTAGGTCAGGA	ENSP00000325395.5:n.*433-118_*433-101deli...
ENST00000350303.9:c.412-118_412-101delinsCACTGCCCTAGGTCAGGA	ENSP00000344152.5:n.412-118_412-101delins...
ENST00000356839.9:c.478-118_478-101delinsCACTGCCCTAGGTCAGGA	ENSP00000349297.5:n.478-118_478-101delins...
ENST00000543245.6:c.547-118_547-101delinsCACTGCCCTAGGTCAGGA	ENSP00000438689.2:n.547-118_547-101delins...
ENST00000577191.5:n.555-118_555-101delinsCACTGCCCTAGGTCAGGA
ENST00000577433.5:n.686-118_686-101delinsCACTGCCCTAGGTCAGGA
ENST00000577857.5:n.294-118_294-101delinsCACTGCCCTAGGTCAGGA
ENST00000579286.5:n.659-118_659-101delinsCACTGCCCTAGGTCAGGA
ENST00000579886.2:c.316-118_316-101delinsCACTGCCCTAGGTCAGGA	ENSP00000463246.1:n.316-118_316-101delins...
ENST00000580365.1:n.209-118_209-101delinsCACTGCCCTAGGTCAGGA
ENST00000581378.5:c.177-99_177-82delinsCACTGCCCTAGGTCAGGA
ENST00000581562.5:n.524+362_524+379delinsCACTGCCCTAGGTCAGGA
ENST00000582166.1:n.459-118_459-101delinsCACTGCCCTAGGTCAGGA
ENST00000583312.5:c.478-118_478-101delinsCACTGCCCTAGGTCAGGA	ENSP00000467920.1:n.478-118_478-101delins...
ENST00000583760.1:n.142_159delinsCACTGCCCTAGGTCAGGA
NM_000018.3:c.478-118_478-101delinsCACTGCCCTAGGTCAGGA	NP_000009.1:n.478-118_478-101delinsCACTGC...
NM_001033859.2:c.412-118_412-101delinsCACTGCCCTAGGTCAGGA	NP_001029031.1:n.412-118_412-101delinsCAC...
NM_001270447.1:c.547-118_547-101delinsCACTGCCCTAGGTCAGGA	NP_001257376.1:n.547-118_547-101delinsCAC...
NM_001270448.1:c.250-118_250-101delinsCACTGCCCTAGGTCAGGA	NP_001257377.1:n.250-118_250-101delinsCAC...
XM_006721516.2:c.478-118_478-101delinsCACTGCCCTAGGTCAGGA	XP_006721579.2:n.478-118_478-101delinsCAC...
XM_011523829.1:c.478-118_478-101delinsCACTGCCCTAGGTCAGGA	XP_011522131.1:n.478-118_478-101delinsCAC...
XM_011523830.1:c.478-118_478-101delinsCACTGCCCTAGGTCAGGA	XP_011522132.1:n.478-118_478-101delinsCAC...
XR_934021.1:n.585-118_585-101delinsCACTGCCCTAGGTCAGGA
XR_934022.1:n.585-118_585-101delinsCACTGCCCTAGGTCAGGA
XR_934023.1:n.585-118_585-101delinsCACTGCCCTAGGTCAGGA
XM_006721516.3:c.478-118_478-101delinsCACTGCCCTAGGTCAGGA	XP_006721579.2:n.478-118_478-101delinsCAC...
XM_011523829.2:c.478-118_478-101delinsCACTGCCCTAGGTCAGGA	XP_011522131.1:n.478-118_478-101delinsCAC...
XM_011523830.2:c.478-118_478-101delinsCACTGCCCTAGGTCAGGA	XP_011522132.1:n.478-118_478-101delinsCAC...
XM_024450741.1:c.478-118_478-101delinsCACTGCCCTAGGTCAGGA	XP_024306509.1:n.478-118_478-101delinsCAC...
XR_934021.2:n.537-118_537-101delinsCACTGCCCTAGGTCAGGA
XR_934022.2:n.537-118_537-101delinsCACTGCCCTAGGTCAGGA
XR_934023.2:n.537-118_537-101delinsCACTGCCCTAGGTCAGGA
NM_000018.4:c.478-118_478-101delinsCACTGCCCTAGGTCAGGA MANE Select	NP_000009.1:n.478-118_478-101delinsCACTGC...
NM_001033859.3:c.412-118_412-101delinsCACTGCCCTAGGTCAGGA	NP_001029031.1:n.412-118_412-101delinsCAC...
NM_001270447.2:c.547-118_547-101delinsCACTGCCCTAGGTCAGGA	NP_001257376.1:n.547-118_547-101delinsCAC...
NM_001270448.2:c.250-118_250-101delinsCACTGCCCTAGGTCAGGA	NP_001257377.1:n.250-118_250-101delinsCAC...