Canonical Allele Identifier: CA916083528
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 869107
ClinVar RCV Id: RCV001873444 RCV001814268
dbSNP Id: rs886044671
gnomAD v4: 17-7222288-CG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222293del , CM000679.2:g.7222293del GRCh38
NC_000017.10:g.7125612del , CM000679.1:g.7125612del GRCh37
NC_000017.9:g.7066336del NCBI36
NG_007975.1:g.7460del
NG_008391.2:g.2762del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.869del MANE Select ENSP00000349297.5:p.Gly290AlafsTer?
ENST00000322910.9:c.*824del ENSP00000325395.5:n.*824del
ENST00000350303.9:c.803del ENSP00000344152.5:p.Gly268AlafsTer?
ENST00000356839.9:c.869del ENSP00000349297.5:p.Gly290AlafsTer?
ENST00000543245.6:c.938del ENSP00000438689.2:p.Gly313AlafsTer?
ENST00000577191.5:n.1041del
ENST00000581378.5:c.587del
ENST00000582379.1:n.253del
NM_000018.3:c.869del NP_000009.1:p.Gly290AlafsTer?
NM_001033859.2:c.803del NP_001029031.1:p.Gly268AlafsTer?
NM_001270447.1:c.938del NP_001257376.1:p.Gly313AlafsTer?
NM_001270448.1:c.641del NP_001257377.1:p.Gly214AlafsTer?
XM_006721516.2:c.869del XP_006721579.2:p.Gly290AlafsTer?
XM_011523829.1:c.869del XP_011522131.1:p.Gly290AlafsTer?
XM_011523830.1:c.869del XP_011522132.1:p.Gly290AlafsTer?
XR_934021.1:n.976del
XR_934022.1:n.976del
XR_934023.1:n.976del
XM_006721516.3:c.869del XP_006721579.2:p.Gly290AlafsTer?
XM_011523829.2:c.869del XP_011522131.1:p.Gly290AlafsTer?
XM_011523830.2:c.869del XP_011522132.1:p.Gly290AlafsTer?
XM_024450741.1:c.869del XP_024306509.1:p.Gly290AlafsTer?
XR_934021.2:n.928del
XR_934022.2:n.928del
XR_934023.2:n.928del
NM_000018.4:c.869del MANE Select NP_000009.1:p.Gly290AlafsTer?
NM_001033859.3:c.803del NP_001029031.1:p.Gly268AlafsTer?
NM_001270447.2:c.938del NP_001257376.1:p.Gly313AlafsTer?
NM_001270448.2:c.641del NP_001257377.1:p.Gly214AlafsTer?
Search 100 bp 5'
Search 100 bp 3'