Canonical Allele Identifier: CA8338130
Community Standard Title: NM_000018.4(ACADVL):c.1500_1502del (p.Leu502del)
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224211_7224213del , CM000679.2:g.7224211_7224213del GRCh38
NC_000017.10:g.7127530_7127532del , CM000679.1:g.7127530_7127532del GRCh37
NC_000017.9:g.7068254_7068256del NCBI36
NG_007975.1:g.9378_9380del
NG_008391.2:g.841_843del
NG_033038.1:g.15335_15337del

Transcript Alleles

HGVS Amino-acid Change
NM_000018.4:c.1500_1502del MANE Select NP_000009.1:p.Leu501del
ENST00000356839.10:c.1500_1502del MANE Select ENSP00000349297.5:p.Leu501del
NM_000018.3:c.1500_1502del NP_000009.1:p.Leu501del
NM_001033859.2:c.1434_1436del NP_001029031.1:p.Leu479del
NM_001033859.3:c.1434_1436del NP_001029031.1:p.Leu479del
NM_001270447.1:c.1569_1571del NP_001257376.1:p.Leu524del
NM_001270447.2:c.1569_1571del NP_001257376.1:p.Leu524del
NM_001270448.1:c.1272_1274del NP_001257377.1:p.Leu425del
NM_001270448.2:c.1272_1274del NP_001257377.1:p.Leu425del
ENST00000322910.9:c.*1455_*1457del ENSP00000325395.5:n.*1455_*1457del
ENST00000350303.9:c.1434_1436del ENSP00000344152.5:p.Leu479del
ENST00000356839.9:c.1500_1502del ENSP00000349297.5:p.Leu501del
ENST00000542255.6:c.358_360del
ENST00000543245.6:c.1569_1571del ENSP00000438689.2:p.Leu524del
ENST00000578711.1:n.707_709del
ENST00000579391.1:n.108_110del
ENST00000579425.5:n.616_618del
ENST00000579546.1:c.272-110_272-108del
ENST00000579894.5:n.287_289del
ENST00000583074.5:n.154-110_154-108del
ENST00000583850.5:n.275_277del
ENST00000583858.5:c.464-110_464-108del
ENST00000585203.6:n.691_693del
XM_006721516.2:c.1500_1502del XP_006721579.2:p.Leu501del
XM_006721516.3:c.1500_1502del XP_006721579.2:p.Leu501del
XM_011523829.1:c.1435-110_1435-108del XP_011522131.1:n.1435-110_1435-108del
XM_011523829.2:c.1435-110_1435-108del XP_011522131.1:n.1435-110_1435-108del
XM_011523830.1:c.1435-110_1435-108del XP_011522132.1:n.1435-110_1435-108del
XM_011523830.2:c.1435-110_1435-108del XP_011522132.1:n.1435-110_1435-108del
XM_024450741.1:c.1435-110_1435-108del XP_024306509.1:n.1435-110_1435-108del
XR_934021.1:n.1607_1609del
XR_934021.2:n.1559_1561del
XR_934022.1:n.1542-110_1542-108del
XR_934022.2:n.1494-110_1494-108del
XR_934023.1:n.1542-110_1542-108del
XR_934023.2:n.1494-110_1494-108del