Canonical Allele Identifier: CA919784389
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs1567562793

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221445_7221449del , CM000679.2:g.7221445_7221449del GRCh38
NC_000017.10:g.7124764_7124768del , CM000679.1:g.7124764_7124768del GRCh37
NC_000017.9:g.7065488_7065492del NCBI36
NG_007975.1:g.6612_6616del
NG_008391.2:g.3602_3606del

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.478-93_478-89del MANE Select ENSP00000349297.5:n.478-93_478-89del
ENST00000322910.9:c.*433-93_*433-89del ENSP00000325395.5:n.*433-93_*433-89del
ENST00000350303.9:c.412-93_412-89del ENSP00000344152.5:n.412-93_412-89del
ENST00000356839.9:c.478-93_478-89del ENSP00000349297.5:n.478-93_478-89del
ENST00000543245.6:c.547-93_547-89del ENSP00000438689.2:n.547-93_547-89del
ENST00000577191.5:n.555-93_555-89del
ENST00000577433.5:n.686-93_686-89del
ENST00000577857.5:n.294-93_294-89del
ENST00000579286.5:n.659-93_659-89del
ENST00000579886.2:c.316-93_316-89del ENSP00000463246.1:n.316-93_316-89del
ENST00000580365.1:n.209-93_209-89del
ENST00000581378.5:c.177-74_177-70del
ENST00000581562.5:n.524+387_524+391del
ENST00000582166.1:n.459-93_459-89del
ENST00000583312.5:c.478-93_478-89del ENSP00000467920.1:n.478-93_478-89del
ENST00000583760.1:n.167_171del
NM_000018.3:c.478-93_478-89del NP_000009.1:n.478-93_478-89del
NM_001033859.2:c.412-93_412-89del NP_001029031.1:n.412-93_412-89del
NM_001270447.1:c.547-93_547-89del NP_001257376.1:n.547-93_547-89del
NM_001270448.1:c.250-93_250-89del NP_001257377.1:n.250-93_250-89del
XM_006721516.2:c.478-93_478-89del XP_006721579.2:n.478-93_478-89del
XM_011523829.1:c.478-93_478-89del XP_011522131.1:n.478-93_478-89del
XM_011523830.1:c.478-93_478-89del XP_011522132.1:n.478-93_478-89del
XR_934021.1:n.585-93_585-89del
XR_934022.1:n.585-93_585-89del
XR_934023.1:n.585-93_585-89del
XM_006721516.3:c.478-93_478-89del XP_006721579.2:n.478-93_478-89del
XM_011523829.2:c.478-93_478-89del XP_011522131.1:n.478-93_478-89del
XM_011523830.2:c.478-93_478-89del XP_011522132.1:n.478-93_478-89del
XM_024450741.1:c.478-93_478-89del XP_024306509.1:n.478-93_478-89del
XR_934021.2:n.537-93_537-89del
XR_934022.2:n.537-93_537-89del
XR_934023.2:n.537-93_537-89del
NM_000018.4:c.478-93_478-89del MANE Select NP_000009.1:n.478-93_478-89del
NM_001033859.3:c.412-93_412-89del NP_001029031.1:n.412-93_412-89del
NM_001270447.2:c.547-93_547-89del NP_001257376.1:n.547-93_547-89del
NM_001270448.2:c.250-93_250-89del NP_001257377.1:n.250-93_250-89del