Canonical Allele Identifier: CA2635780819

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7221298-A-AGT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221298_7221299insGT , CM000679.2:g.7221298_7221299insGT	GRCh38
NC_000017.10:g.7124617_7124618insGT , CM000679.1:g.7124617_7124618insGT	GRCh37
NC_000017.9:g.7065341_7065342insGT	NCBI36
NG_007975.1:g.6465_6466insGT
NG_008391.2:g.3752_3753insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.478-240_478-239insGT MANE Select	ENSP00000349297.5:n.478-240_478-239insGT
ENST00000322910.9:c.*433-240_*433-239insGT	ENSP00000325395.5:n.*433-240_*433-239insGT
ENST00000350303.9:c.412-240_412-239insGT	ENSP00000344152.5:n.412-240_412-239insGT
ENST00000356839.9:c.478-240_478-239insGT	ENSP00000349297.5:n.478-240_478-239insGT
ENST00000543245.6:c.547-240_547-239insGT	ENSP00000438689.2:n.547-240_547-239insGT
ENST00000577191.5:n.555-240_555-239insGT
ENST00000577433.5:n.686-240_686-239insGT
ENST00000577857.5:n.294-240_294-239insGT
ENST00000579286.5:n.659-240_659-239insGT
ENST00000579886.2:c.316-240_316-239insGT	ENSP00000463246.1:n.316-240_316-239insGT
ENST00000580365.1:n.209-240_209-239insGT
ENST00000581378.5:c.177-221_177-220insGT
ENST00000581562.5:n.524+240_524+241insGT
ENST00000582166.1:n.459-240_459-239insGT
ENST00000583312.5:c.478-240_478-239insGT	ENSP00000467920.1:n.478-240_478-239insGT
ENST00000583760.1:n.20_21insGT
NM_000018.3:c.478-240_478-239insGT	NP_000009.1:n.478-240_478-239insGT
NM_001033859.2:c.412-240_412-239insGT	NP_001029031.1:n.412-240_412-239insGT
NM_001270447.1:c.547-240_547-239insGT	NP_001257376.1:n.547-240_547-239insGT
NM_001270448.1:c.250-240_250-239insGT	NP_001257377.1:n.250-240_250-239insGT
XM_006721516.2:c.478-240_478-239insGT	XP_006721579.2:n.478-240_478-239insGT
XM_011523829.1:c.478-240_478-239insGT	XP_011522131.1:n.478-240_478-239insGT
XM_011523830.1:c.478-240_478-239insGT	XP_011522132.1:n.478-240_478-239insGT
XR_934021.1:n.585-240_585-239insGT
XR_934022.1:n.585-240_585-239insGT
XR_934023.1:n.585-240_585-239insGT
XM_006721516.3:c.478-240_478-239insGT	XP_006721579.2:n.478-240_478-239insGT
XM_011523829.2:c.478-240_478-239insGT	XP_011522131.1:n.478-240_478-239insGT
XM_011523830.2:c.478-240_478-239insGT	XP_011522132.1:n.478-240_478-239insGT
XM_024450741.1:c.478-240_478-239insGT	XP_024306509.1:n.478-240_478-239insGT
XR_934021.2:n.537-240_537-239insGT
XR_934022.2:n.537-240_537-239insGT
XR_934023.2:n.537-240_537-239insGT
NM_000018.4:c.478-240_478-239insGT MANE Select	NP_000009.1:n.478-240_478-239insGT
NM_001033859.3:c.412-240_412-239insGT	NP_001029031.1:n.412-240_412-239insGT
NM_001270447.2:c.547-240_547-239insGT	NP_001257376.1:n.547-240_547-239insGT
NM_001270448.2:c.250-240_250-239insGT	NP_001257377.1:n.250-240_250-239insGT