Canonical Allele Identifier: CA1139532273
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7224219-GAGAGGC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224222_7224227del , CM000679.2:g.7224222_7224227del GRCh38
NC_000017.10:g.7127541_7127546del , CM000679.1:g.7127541_7127546del GRCh37
NC_000017.9:g.7068265_7068270del NCBI36
NG_007975.1:g.9389_9394del
NG_008391.2:g.826_831del
NG_033038.1:g.15320_15325del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1511_1516del MANE Select ENSP00000349297.5:p.Glu504_Ala505del
ENST00000322910.9:c.*1466_*1471del ENSP00000325395.5:n.*1466_*1471del
ENST00000350303.9:c.1445_1450del ENSP00000344152.5:p.Glu482_Ala483del
ENST00000356839.9:c.1511_1516del ENSP00000349297.5:p.Glu504_Ala505del
ENST00000542255.6:c.369_374del
ENST00000543245.6:c.1580_1585del ENSP00000438689.2:p.Glu527_Ala528del
ENST00000578319.5:n.6_11del
ENST00000578711.1:n.718_723del
ENST00000578809.5:n.6_11del
ENST00000579391.1:n.119_124del
ENST00000579425.5:n.627_632del
ENST00000579546.1:c.272-99_272-94del
ENST00000579894.5:n.298_303del
ENST00000583074.5:n.154-99_154-94del
ENST00000583850.5:n.286_291del
ENST00000583858.5:c.464-99_464-94del
ENST00000585203.6:n.702_707del
NM_000018.3:c.1511_1516del NP_000009.1:p.Glu504_Ala505del
NM_001033859.2:c.1445_1450del NP_001029031.1:p.Glu482_Ala483del
NM_001270447.1:c.1580_1585del NP_001257376.1:p.Glu527_Ala528del
NM_001270448.1:c.1283_1288del NP_001257377.1:p.Glu428_Ala429del
XM_006721516.2:c.1511_1516del XP_006721579.2:p.Glu504_Ala505del
XM_011523829.1:c.1435-99_1435-94del XP_011522131.1:n.1435-99_1435-94del
XM_011523830.1:c.1435-99_1435-94del XP_011522132.1:n.1435-99_1435-94del
XR_934021.1:n.1618_1623del
XR_934022.1:n.1542-99_1542-94del
XR_934023.1:n.1542-99_1542-94del
XM_006721516.3:c.1511_1516del XP_006721579.2:p.Glu504_Ala505del
XM_011523829.2:c.1435-99_1435-94del XP_011522131.1:n.1435-99_1435-94del
XM_011523830.2:c.1435-99_1435-94del XP_011522132.1:n.1435-99_1435-94del
XM_024450741.1:c.1435-99_1435-94del XP_024306509.1:n.1435-99_1435-94del
XR_934021.2:n.1570_1575del
XR_934022.2:n.1494-99_1494-94del
XR_934023.2:n.1494-99_1494-94del
NM_000018.4:c.1511_1516del MANE Select NP_000009.1:p.Glu504_Ala505del
NM_001033859.3:c.1445_1450del NP_001029031.1:p.Glu482_Ala483del
NM_001270447.2:c.1580_1585del NP_001257376.1:p.Glu527_Ala528del
NM_001270448.2:c.1283_1288del NP_001257377.1:p.Glu428_Ala429del
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