Canonical Allele Identifier: CA2245700975
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 932827
ClinVar RCV Id: RCV001200780
dbSNP Id: rs2071256607

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222040_7222041del , CM000679.2:g.7222040_7222041del GRCh38
NC_000017.10:g.7125359_7125360del , CM000679.1:g.7125359_7125360del GRCh37
NC_000017.9:g.7066083_7066084del NCBI36
NG_007975.1:g.7207_7208del
NG_008391.2:g.3012_3013del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.711_712del MANE Select ENSP00000349297.5:p.Cys237TrpfsTer15
ENST00000322910.9:c.*666_*667del ENSP00000325395.5:n.*666_*667del
ENST00000350303.9:c.645_646del ENSP00000344152.5:p.Cys215TrpfsTer15
ENST00000356839.9:c.711_712del ENSP00000349297.5:p.Cys237TrpfsTer15
ENST00000543245.6:c.780_781del ENSP00000438689.2:p.Cys260TrpfsTer15
ENST00000577191.5:n.788_789del
ENST00000577857.5:n.527_528del
ENST00000579286.5:n.892_893del
ENST00000580365.1:n.442_443del
ENST00000581378.5:c.429_430del
ENST00000582379.1:n.95_96del
ENST00000583760.1:n.493_494del
NM_000018.3:c.711_712del NP_000009.1:p.Cys237TrpfsTer15
NM_001033859.2:c.645_646del NP_001029031.1:p.Cys215TrpfsTer15
NM_001270447.1:c.780_781del NP_001257376.1:p.Cys260TrpfsTer15
NM_001270448.1:c.483_484del NP_001257377.1:p.Cys161TrpfsTer15
XM_006721516.2:c.711_712del XP_006721579.2:p.Cys237TrpfsTer15
XM_011523829.1:c.711_712del XP_011522131.1:p.Cys237TrpfsTer15
XM_011523830.1:c.711_712del XP_011522132.1:p.Cys237TrpfsTer15
XR_934021.1:n.818_819del
XR_934022.1:n.818_819del
XR_934023.1:n.818_819del
XM_006721516.3:c.711_712del XP_006721579.2:p.Cys237TrpfsTer15
XM_011523829.2:c.711_712del XP_011522131.1:p.Cys237TrpfsTer15
XM_011523830.2:c.711_712del XP_011522132.1:p.Cys237TrpfsTer15
XM_024450741.1:c.711_712del XP_024306509.1:p.Cys237TrpfsTer15
XR_934021.2:n.770_771del
XR_934022.2:n.770_771del
XR_934023.2:n.770_771del
NM_000018.4:c.711_712del MANE Select NP_000009.1:p.Cys237TrpfsTer15
NM_001033859.3:c.645_646del NP_001029031.1:p.Cys215TrpfsTer15
NM_001270447.2:c.780_781del NP_001257376.1:p.Cys260TrpfsTer15
NM_001270448.2:c.483_484del NP_001257377.1:p.Cys161TrpfsTer15