Canonical Allele Identifier: CA2245699836

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221444_7221449delinsCTAGGT , CM000679.2:g.7221444_7221449delinsCTAGGT	GRCh38
NC_000017.10:g.7124763_7124768delinsCTAGGT , CM000679.1:g.7124763_7124768delinsCTAGGT	GRCh37
NC_000017.9:g.7065487_7065492delinsCTAGGT	NCBI36
NG_007975.1:g.6611_6616delinsCTAGGT
NG_008391.2:g.3602_3607delinsACCTAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.478-94_478-89delinsCTAGGT MANE Select	ENSP00000349297.5:n.478-94_478-89delinsCT...
ENST00000322910.9:c.*433-94_*433-89delinsCTAGGT	ENSP00000325395.5:n.*433-94_*433-89delins...
ENST00000350303.9:c.412-94_412-89delinsCTAGGT	ENSP00000344152.5:n.412-94_412-89delinsCT...
ENST00000356839.9:c.478-94_478-89delinsCTAGGT	ENSP00000349297.5:n.478-94_478-89delinsCT...
ENST00000543245.6:c.547-94_547-89delinsCTAGGT	ENSP00000438689.2:n.547-94_547-89delinsCT...
ENST00000577191.5:n.555-94_555-89delinsCTAGGT
ENST00000577433.5:n.686-94_686-89delinsCTAGGT
ENST00000577857.5:n.294-94_294-89delinsCTAGGT
ENST00000579286.5:n.659-94_659-89delinsCTAGGT
ENST00000579886.2:c.316-94_316-89delinsCTAGGT	ENSP00000463246.1:n.316-94_316-89delinsCT...
ENST00000580365.1:n.209-94_209-89delinsCTAGGT
ENST00000581378.5:c.177-75_177-70delinsCTAGGT
ENST00000581562.5:n.524+386_524+391delinsCTAGGT
ENST00000582166.1:n.459-94_459-89delinsCTAGGT
ENST00000583312.5:c.478-94_478-89delinsCTAGGT	ENSP00000467920.1:n.478-94_478-89delinsCT...
ENST00000583760.1:n.166_171delinsCTAGGT
NM_000018.3:c.478-94_478-89delinsCTAGGT	NP_000009.1:n.478-94_478-89delinsCTAGGT
NM_001033859.2:c.412-94_412-89delinsCTAGGT	NP_001029031.1:n.412-94_412-89delinsCTAGG...
NM_001270447.1:c.547-94_547-89delinsCTAGGT	NP_001257376.1:n.547-94_547-89delinsCTAGG...
NM_001270448.1:c.250-94_250-89delinsCTAGGT	NP_001257377.1:n.250-94_250-89delinsCTAGG...
XM_006721516.2:c.478-94_478-89delinsCTAGGT	XP_006721579.2:n.478-94_478-89delinsCTAGG...
XM_011523829.1:c.478-94_478-89delinsCTAGGT	XP_011522131.1:n.478-94_478-89delinsCTAGG...
XM_011523830.1:c.478-94_478-89delinsCTAGGT	XP_011522132.1:n.478-94_478-89delinsCTAGG...
XR_934021.1:n.585-94_585-89delinsCTAGGT
XR_934022.1:n.585-94_585-89delinsCTAGGT
XR_934023.1:n.585-94_585-89delinsCTAGGT
XM_006721516.3:c.478-94_478-89delinsCTAGGT	XP_006721579.2:n.478-94_478-89delinsCTAGG...
XM_011523829.2:c.478-94_478-89delinsCTAGGT	XP_011522131.1:n.478-94_478-89delinsCTAGG...
XM_011523830.2:c.478-94_478-89delinsCTAGGT	XP_011522132.1:n.478-94_478-89delinsCTAGG...
XM_024450741.1:c.478-94_478-89delinsCTAGGT	XP_024306509.1:n.478-94_478-89delinsCTAGG...
XR_934021.2:n.537-94_537-89delinsCTAGGT
XR_934022.2:n.537-94_537-89delinsCTAGGT
XR_934023.2:n.537-94_537-89delinsCTAGGT
NM_000018.4:c.478-94_478-89delinsCTAGGT MANE Select	NP_000009.1:n.478-94_478-89delinsCTAGGT
NM_001033859.3:c.412-94_412-89delinsCTAGGT	NP_001029031.1:n.412-94_412-89delinsCTAGG...
NM_001270447.2:c.547-94_547-89delinsCTAGGT	NP_001257376.1:n.547-94_547-89delinsCTAGG...
NM_001270448.2:c.250-94_250-89delinsCTAGGT	NP_001257377.1:n.250-94_250-89delinsCTAGG...