Canonical Allele Identifier: CA2635783753
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7224214-GC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224215del , CM000679.2:g.7224215del GRCh38
NC_000017.10:g.7127534del , CM000679.1:g.7127534del GRCh37
NC_000017.9:g.7068258del NCBI36
NG_007975.1:g.9382del
NG_008391.2:g.836del
NG_033038.1:g.15330del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1504del MANE Select ENSP00000349297.5:p.Leu502Ter
ENST00000322910.9:c.*1459del ENSP00000325395.5:n.*1459del
ENST00000350303.9:c.1438del ENSP00000344152.5:p.Leu480Ter
ENST00000356839.9:c.1504del ENSP00000349297.5:p.Leu502Ter
ENST00000542255.6:c.362del
ENST00000543245.6:c.1573del ENSP00000438689.2:p.Leu525Ter
ENST00000578711.1:n.711del
ENST00000579391.1:n.112del
ENST00000579425.5:n.620del
ENST00000579546.1:c.272-106del
ENST00000579894.5:n.291del
ENST00000583074.5:n.154-106del
ENST00000583850.5:n.279del
ENST00000583858.5:c.464-106del
ENST00000585203.6:n.695del
NM_000018.3:c.1504del NP_000009.1:p.Leu502Ter
NM_001033859.2:c.1438del NP_001029031.1:p.Leu480Ter
NM_001270447.1:c.1573del NP_001257376.1:p.Leu525Ter
NM_001270448.1:c.1276del NP_001257377.1:p.Leu426Ter
XM_006721516.2:c.1504del XP_006721579.2:p.Leu502Ter
XM_011523829.1:c.1435-106del XP_011522131.1:n.1435-106del
XM_011523830.1:c.1435-106del XP_011522132.1:n.1435-106del
XR_934021.1:n.1611del
XR_934022.1:n.1542-106del
XR_934023.1:n.1542-106del
XM_006721516.3:c.1504del XP_006721579.2:p.Leu502Ter
XM_011523829.2:c.1435-106del XP_011522131.1:n.1435-106del
XM_011523830.2:c.1435-106del XP_011522132.1:n.1435-106del
XM_024450741.1:c.1435-106del XP_024306509.1:n.1435-106del
XR_934021.2:n.1563del
XR_934022.2:n.1494-106del
XR_934023.2:n.1494-106del
NM_000018.4:c.1504del MANE Select NP_000009.1:p.Leu502Ter
NM_001033859.3:c.1438del NP_001029031.1:p.Leu480Ter
NM_001270447.2:c.1573del NP_001257376.1:p.Leu525Ter
NM_001270448.2:c.1276del NP_001257377.1:p.Leu426Ter
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