Canonical Allele Identifier: CA2635781099

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7221432-TCAGGAACTGCCCTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221433_7221446del , CM000679.2:g.7221433_7221446del	GRCh38
NC_000017.10:g.7124752_7124765del , CM000679.1:g.7124752_7124765del	GRCh37
NC_000017.9:g.7065476_7065489del	NCBI36
NG_007975.1:g.6600_6613del
NG_008391.2:g.3605_3618del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.478-105_478-92del MANE Select	ENSP00000349297.5:n.478-105_478-92del
ENST00000322910.9:c.*433-105_*433-92del	ENSP00000325395.5:n.*433-105_*433-92del
ENST00000350303.9:c.412-105_412-92del	ENSP00000344152.5:n.412-105_412-92del
ENST00000356839.9:c.478-105_478-92del	ENSP00000349297.5:n.478-105_478-92del
ENST00000543245.6:c.547-105_547-92del	ENSP00000438689.2:n.547-105_547-92del
ENST00000577191.5:n.555-105_555-92del
ENST00000577433.5:n.686-105_686-92del
ENST00000577857.5:n.294-105_294-92del
ENST00000579286.5:n.659-105_659-92del
ENST00000579886.2:c.316-105_316-92del	ENSP00000463246.1:n.316-105_316-92del
ENST00000580365.1:n.209-105_209-92del
ENST00000581378.5:c.177-86_177-73del
ENST00000581562.5:n.524+375_524+388del
ENST00000582166.1:n.459-105_459-92del
ENST00000583312.5:c.478-105_478-92del	ENSP00000467920.1:n.478-105_478-92del
ENST00000583760.1:n.155_168del
NM_000018.3:c.478-105_478-92del	NP_000009.1:n.478-105_478-92del
NM_001033859.2:c.412-105_412-92del	NP_001029031.1:n.412-105_412-92del
NM_001270447.1:c.547-105_547-92del	NP_001257376.1:n.547-105_547-92del
NM_001270448.1:c.250-105_250-92del	NP_001257377.1:n.250-105_250-92del
XM_006721516.2:c.478-105_478-92del	XP_006721579.2:n.478-105_478-92del
XM_011523829.1:c.478-105_478-92del	XP_011522131.1:n.478-105_478-92del
XM_011523830.1:c.478-105_478-92del	XP_011522132.1:n.478-105_478-92del
XR_934021.1:n.585-105_585-92del
XR_934022.1:n.585-105_585-92del
XR_934023.1:n.585-105_585-92del
XM_006721516.3:c.478-105_478-92del	XP_006721579.2:n.478-105_478-92del
XM_011523829.2:c.478-105_478-92del	XP_011522131.1:n.478-105_478-92del
XM_011523830.2:c.478-105_478-92del	XP_011522132.1:n.478-105_478-92del
XM_024450741.1:c.478-105_478-92del	XP_024306509.1:n.478-105_478-92del
XR_934021.2:n.537-105_537-92del
XR_934022.2:n.537-105_537-92del
XR_934023.2:n.537-105_537-92del
NM_000018.4:c.478-105_478-92del MANE Select	NP_000009.1:n.478-105_478-92del
NM_001033859.3:c.412-105_412-92del	NP_001029031.1:n.412-105_412-92del
NM_001270447.2:c.547-105_547-92del	NP_001257376.1:n.547-105_547-92del
NM_001270448.2:c.250-105_250-92del	NP_001257377.1:n.250-105_250-92del