Canonical Allele Identifier: CA2501910813
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2830534
ClinVar RCV Id: RCV003602071

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222801_7222804del , CM000679.2:g.7222801_7222804del GRCh38
NC_000017.10:g.7126120_7126123del , CM000679.1:g.7126120_7126123del GRCh37
NC_000017.9:g.7066844_7066847del NCBI36
NG_007975.1:g.7968_7971del
NG_008391.2:g.2248_2251del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1013_1016del MANE Select ENSP00000349297.5:p.Asn338MetfsTer14
ENST00000322910.9:c.*968_*971del ENSP00000325395.5:n.*968_*971del
ENST00000350303.9:c.947_950del ENSP00000344152.5:p.Asn316MetfsTer14
ENST00000356839.9:c.1013_1016del ENSP00000349297.5:p.Asn338MetfsTer14
ENST00000543245.6:c.1082_1085del ENSP00000438689.2:p.Asn361MetfsTer14
ENST00000578824.5:n.162_165del
ENST00000581378.5:c.731_734del
ENST00000582379.1:n.397_400del
ENST00000583858.5:c.42_45del
NM_000018.3:c.1013_1016del NP_000009.1:p.Asn338MetfsTer14
NM_001033859.2:c.947_950del NP_001029031.1:p.Asn316MetfsTer14
NM_001270447.1:c.1082_1085del NP_001257376.1:p.Asn361MetfsTer14
NM_001270448.1:c.785_788del NP_001257377.1:p.Asn262MetfsTer14
XM_006721516.2:c.1013_1016del XP_006721579.2:p.Asn338MetfsTer14
XM_011523829.1:c.1013_1016del XP_011522131.1:p.Asn338MetfsTer14
XM_011523830.1:c.1013_1016del XP_011522132.1:p.Asn338MetfsTer14
XR_934021.1:n.1120_1123del
XR_934022.1:n.1120_1123del
XR_934023.1:n.1120_1123del
XM_006721516.3:c.1013_1016del XP_006721579.2:p.Asn338MetfsTer14
XM_011523829.2:c.1013_1016del XP_011522131.1:p.Asn338MetfsTer14
XM_011523830.2:c.1013_1016del XP_011522132.1:p.Asn338MetfsTer14
XM_024450741.1:c.1013_1016del XP_024306509.1:p.Asn338MetfsTer14
XR_934021.2:n.1072_1075del
XR_934022.2:n.1072_1075del
XR_934023.2:n.1072_1075del
NM_000018.4:c.1013_1016del MANE Select NP_000009.1:p.Asn338MetfsTer14
NM_001033859.3:c.947_950del NP_001029031.1:p.Asn316MetfsTer14
NM_001270447.2:c.1082_1085del NP_001257376.1:p.Asn361MetfsTer14
NM_001270448.2:c.785_788del NP_001257377.1:p.Asn262MetfsTer14