Canonical Allele Identifier: CA2697557233
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2690505
ClinVar RCV Id: RCV003486300

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223695del , CM000679.2:g.7223695del GRCh38
NC_000017.10:g.7127014del , CM000679.1:g.7127014del GRCh37
NC_000017.9:g.7067738del NCBI36
NG_007975.1:g.8862del
NG_008391.2:g.1357del
NG_033038.1:g.15851del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1234del MANE Select ENSP00000349297.5:p.Gln412ArgfsTer2
ENST00000322910.9:c.*1189del ENSP00000325395.5:n.*1189del
ENST00000350303.9:c.1168del ENSP00000344152.5:p.Gln390ArgfsTer2
ENST00000356839.9:c.1234del ENSP00000349297.5:p.Gln412ArgfsTer2
ENST00000542255.6:c.92del
ENST00000543245.6:c.1303del ENSP00000438689.2:p.Gln435ArgfsTer2
ENST00000578579.2:n.405del
ENST00000578711.1:n.191del
ENST00000578824.5:n.650del
ENST00000579425.5:n.258del
ENST00000579546.1:c.71del
ENST00000583850.5:n.9del
ENST00000583858.5:c.263del
ENST00000585203.6:n.442del
NM_000018.3:c.1234del NP_000009.1:p.Gln412ArgfsTer2
NM_001033859.2:c.1168del NP_001029031.1:p.Gln390ArgfsTer2
NM_001270447.1:c.1303del NP_001257376.1:p.Gln435ArgfsTer2
NM_001270448.1:c.1006del NP_001257377.1:p.Gln336ArgfsTer2
XM_006721516.2:c.1234del XP_006721579.2:p.Gln412ArgfsTer2
XM_011523829.1:c.1234del XP_011522131.1:p.Gln412ArgfsTer2
XM_011523830.1:c.1234del XP_011522132.1:p.Gln412ArgfsTer2
XR_934021.1:n.1341del
XR_934022.1:n.1341del
XR_934023.1:n.1341del
XM_006721516.3:c.1234del XP_006721579.2:p.Gln412ArgfsTer2
XM_011523829.2:c.1234del XP_011522131.1:p.Gln412ArgfsTer2
XM_011523830.2:c.1234del XP_011522132.1:p.Gln412ArgfsTer2
XM_024450741.1:c.1234del XP_024306509.1:p.Gln412ArgfsTer2
XR_934021.2:n.1293del
XR_934022.2:n.1293del
XR_934023.2:n.1293del
NM_000018.4:c.1234del MANE Select NP_000009.1:p.Gln412ArgfsTer2
NM_001033859.3:c.1168del NP_001029031.1:p.Gln390ArgfsTer2
NM_001270447.2:c.1303del NP_001257376.1:p.Gln435ArgfsTer2
NM_001270448.2:c.1006del NP_001257377.1:p.Gln336ArgfsTer2