Canonical Allele Identifier: CA8337734
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 254701
dbSNP Id: rs60400822

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221516_7221517del , CM000679.2:g.7221516_7221517del GRCh38
NC_000017.10:g.7124835_7124836del , CM000679.1:g.7124835_7124836del GRCh37
NC_000017.9:g.7065559_7065560del NCBI36
NG_007975.1:g.6683_6684del
NG_008391.2:g.3534_3535del

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.478-22_478-21del MANE Select ENSP00000349297.5:p.=
ENST00000322910.9:c.*433-22_*433-21del ENSP00000325395.5:p.=
ENST00000350303.9:c.412-22_412-21del ENSP00000344152.5:p.=
ENST00000356839.9:c.478-22_478-21del ENSP00000349297.5:p.=
ENST00000543245.6:c.547-22_547-21del ENSP00000438689.2:p.=
ENST00000577191.5:n.555-22_555-21del
ENST00000577433.5:n.686-22_686-21del
ENST00000577857.5:n.294-22_294-21del
ENST00000579286.5:n.659-22_659-21del
ENST00000579886.2:c.316-22_316-21del ENSP00000463246.1:p.=
ENST00000580365.1:n.209-22_209-21del
ENST00000581378.5:n.177-3_177-2del
ENST00000581562.5:n.525-436_525-435del
ENST00000582166.1:n.459-22_459-21del
ENST00000583312.5:c.478-22_478-21del ENSP00000467920.1:p.=
ENST00000583760.1:n.238_239del
NM_000018.3:c.478-22_478-21del NP_000009.1:p.=
NM_001033859.2:c.412-22_412-21del NP_001029031.1:p.=
NM_001270447.1:c.547-22_547-21del NP_001257376.1:p.=
NM_001270448.1:c.250-22_250-21del NP_001257377.1:p.=
XM_006721516.2:c.478-22_478-21del XP_006721579.2:p.=
XM_011523829.1:c.478-22_478-21del XP_011522131.1:p.=
XM_011523830.1:c.478-22_478-21del XP_011522132.1:p.=
XR_934021.1:n.585-22_585-21del
XR_934022.1:n.585-22_585-21del
XR_934023.1:n.585-22_585-21del
XM_006721516.3:c.478-22_478-21del XP_006721579.2:p.=
XM_011523829.2:c.478-22_478-21del XP_011522131.1:p.=
XM_011523830.2:c.478-22_478-21del XP_011522132.1:p.=
XM_024450741.1:c.478-22_478-21del XP_024306509.1:p.=
XR_934021.2:n.537-22_537-21del
XR_934022.2:n.537-22_537-21del
XR_934023.2:n.537-22_537-21del
NM_000018.4:c.478-22_478-21del MANE Select NP_000009.1:p.=
NM_001033859.3:c.412-22_412-21del NP_001029031.1:p.=
NM_001270447.2:c.547-22_547-21del NP_001257376.1:p.=
NM_001270448.2:c.250-22_250-21del NP_001257377.1:p.=