Canonical Allele Identifier: CA2245699769

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221422_7221424delinsCTG , CM000679.2:g.7221422_7221424delinsCTG	GRCh38
NC_000017.10:g.7124741_7124743delinsCTG , CM000679.1:g.7124741_7124743delinsCTG	GRCh37
NC_000017.9:g.7065465_7065467delinsCTG	NCBI36
NG_007975.1:g.6589_6591delinsCTG
NG_008391.2:g.3627_3629delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.478-116_478-114delinsCTG MANE Select	ENSP00000349297.5:n.478-116_478-114delinsCTG
ENST00000322910.9:c.*433-116_*433-114delinsCTG	ENSP00000325395.5:n.*433-116_*433-114delinsCTG
ENST00000350303.9:c.412-116_412-114delinsCTG	ENSP00000344152.5:n.412-116_412-114delinsCTG
ENST00000356839.9:c.478-116_478-114delinsCTG	ENSP00000349297.5:n.478-116_478-114delinsCTG
ENST00000543245.6:c.547-116_547-114delinsCTG	ENSP00000438689.2:n.547-116_547-114delinsCTG
ENST00000577191.5:n.555-116_555-114delinsCTG
ENST00000577433.5:n.686-116_686-114delinsCTG
ENST00000577857.5:n.294-116_294-114delinsCTG
ENST00000579286.5:n.659-116_659-114delinsCTG
ENST00000579886.2:c.316-116_316-114delinsCTG	ENSP00000463246.1:n.316-116_316-114delinsCTG
ENST00000580365.1:n.209-116_209-114delinsCTG
ENST00000581378.5:c.177-97_177-95delinsCTG
ENST00000581562.5:n.524+364_524+366delinsCTG
ENST00000582166.1:n.459-116_459-114delinsCTG
ENST00000583312.5:c.478-116_478-114delinsCTG	ENSP00000467920.1:n.478-116_478-114delinsCTG
ENST00000583760.1:n.144_146delinsCTG
NM_000018.3:c.478-116_478-114delinsCTG	NP_000009.1:n.478-116_478-114delinsCTG
NM_001033859.2:c.412-116_412-114delinsCTG	NP_001029031.1:n.412-116_412-114delinsCTG
NM_001270447.1:c.547-116_547-114delinsCTG	NP_001257376.1:n.547-116_547-114delinsCTG
NM_001270448.1:c.250-116_250-114delinsCTG	NP_001257377.1:n.250-116_250-114delinsCTG
XM_006721516.2:c.478-116_478-114delinsCTG	XP_006721579.2:n.478-116_478-114delinsCTG
XM_011523829.1:c.478-116_478-114delinsCTG	XP_011522131.1:n.478-116_478-114delinsCTG
XM_011523830.1:c.478-116_478-114delinsCTG	XP_011522132.1:n.478-116_478-114delinsCTG
XR_934021.1:n.585-116_585-114delinsCTG
XR_934022.1:n.585-116_585-114delinsCTG
XR_934023.1:n.585-116_585-114delinsCTG
XM_006721516.3:c.478-116_478-114delinsCTG	XP_006721579.2:n.478-116_478-114delinsCTG
XM_011523829.2:c.478-116_478-114delinsCTG	XP_011522131.1:n.478-116_478-114delinsCTG
XM_011523830.2:c.478-116_478-114delinsCTG	XP_011522132.1:n.478-116_478-114delinsCTG
XM_024450741.1:c.478-116_478-114delinsCTG	XP_024306509.1:n.478-116_478-114delinsCTG
XR_934021.2:n.537-116_537-114delinsCTG
XR_934022.2:n.537-116_537-114delinsCTG
XR_934023.2:n.537-116_537-114delinsCTG
NM_000018.4:c.478-116_478-114delinsCTG MANE Select	NP_000009.1:n.478-116_478-114delinsCTG
NM_001033859.3:c.412-116_412-114delinsCTG	NP_001029031.1:n.412-116_412-114delinsCTG
NM_001270447.2:c.547-116_547-114delinsCTG	NP_001257376.1:n.547-116_547-114delinsCTG
NM_001270448.2:c.250-116_250-114delinsCTG	NP_001257377.1:n.250-116_250-114delinsCTG