Canonical Allele Identifier: CA2635782262
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7223654-AC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223655del , CM000679.2:g.7223655del GRCh38
NC_000017.10:g.7126974del , CM000679.1:g.7126974del GRCh37
NC_000017.9:g.7067698del NCBI36
NG_007975.1:g.8822del
NG_008391.2:g.1396del
NG_033038.1:g.15890del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1194del MANE Select ENSP00000349297.5:p.Tyr398Ter
ENST00000322910.9:c.*1149del ENSP00000325395.5:n.*1149del
ENST00000350303.9:c.1128del ENSP00000344152.5:p.Tyr376Ter
ENST00000356839.9:c.1194del ENSP00000349297.5:p.Tyr398Ter
ENST00000542255.6:c.52del
ENST00000543245.6:c.1263del ENSP00000438689.2:p.Tyr421Ter
ENST00000578579.2:n.365del
ENST00000578711.1:n.151del
ENST00000578824.5:n.610del
ENST00000579425.5:n.218del
ENST00000579546.1:c.31del
ENST00000583858.5:c.223del
ENST00000585203.6:n.402del
NM_000018.3:c.1194del NP_000009.1:p.Tyr398Ter
NM_001033859.2:c.1128del NP_001029031.1:p.Tyr376Ter
NM_001270447.1:c.1263del NP_001257376.1:p.Tyr421Ter
NM_001270448.1:c.966del NP_001257377.1:p.Tyr322Ter
XM_006721516.2:c.1194del XP_006721579.2:p.Tyr398Ter
XM_011523829.1:c.1194del XP_011522131.1:p.Tyr398Ter
XM_011523830.1:c.1194del XP_011522132.1:p.Tyr398Ter
XR_934021.1:n.1301del
XR_934022.1:n.1301del
XR_934023.1:n.1301del
XM_006721516.3:c.1194del XP_006721579.2:p.Tyr398Ter
XM_011523829.2:c.1194del XP_011522131.1:p.Tyr398Ter
XM_011523830.2:c.1194del XP_011522132.1:p.Tyr398Ter
XM_024450741.1:c.1194del XP_024306509.1:p.Tyr398Ter
XR_934021.2:n.1253del
XR_934022.2:n.1253del
XR_934023.2:n.1253del
NM_000018.4:c.1194del MANE Select NP_000009.1:p.Tyr398Ter
NM_001033859.3:c.1128del NP_001029031.1:p.Tyr376Ter
NM_001270447.2:c.1263del NP_001257376.1:p.Tyr421Ter
NM_001270448.2:c.966del NP_001257377.1:p.Tyr322Ter
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