Canonical Allele Identifier: CA913013646
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223824_7223825del , CM000679.2:g.7223824_7223825del GRCh38
NC_000017.10:g.7127143_7127144del , CM000679.1:g.7127143_7127144del GRCh37
NC_000017.9:g.7067867_7067868del NCBI36
NG_007975.1:g.8991_8992del
NG_008391.2:g.1226_1227del
NG_033038.1:g.15720_15721del

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1281_1282del MANE Select ENSP00000349297.5:p.Trp427Ter
ENST00000322910.9:c.*1236_*1237del ENSP00000325395.5:n.*1236_*1237del
ENST00000350303.9:c.1215_1216del ENSP00000344152.5:p.Trp405Ter
ENST00000356839.9:c.1281_1282del ENSP00000349297.5:p.Trp427Ter
ENST00000542255.6:c.139_140del
ENST00000543245.6:c.1350_1351del ENSP00000438689.2:p.Trp450Ter
ENST00000578579.2:n.452_453del
ENST00000578711.1:n.320_321del
ENST00000578824.5:n.697_698del
ENST00000579425.5:n.305_306del
ENST00000579546.1:c.118_119del
ENST00000583850.5:n.56_57del
ENST00000583858.5:c.310_311del
ENST00000585203.6:n.489_490del
NM_000018.3:c.1281_1282del NP_000009.1:p.Trp427Ter
NM_001033859.2:c.1215_1216del NP_001029031.1:p.Trp405Ter
NM_001270447.1:c.1350_1351del NP_001257376.1:p.Trp450Ter
NM_001270448.1:c.1053_1054del NP_001257377.1:p.Trp351Ter
XM_006721516.2:c.1281_1282del XP_006721579.2:p.Trp427Ter
XM_011523829.1:c.1281_1282del XP_011522131.1:p.Trp427Ter
XM_011523830.1:c.1281_1282del XP_011522132.1:p.Trp427Ter
XR_934021.1:n.1388_1389del
XR_934022.1:n.1388_1389del
XR_934023.1:n.1388_1389del
XM_006721516.3:c.1281_1282del XP_006721579.2:p.Trp427Ter
XM_011523829.2:c.1281_1282del XP_011522131.1:p.Trp427Ter
XM_011523830.2:c.1281_1282del XP_011522132.1:p.Trp427Ter
XM_024450741.1:c.1281_1282del XP_024306509.1:p.Trp427Ter
XR_934021.2:n.1340_1341del
XR_934022.2:n.1340_1341del
XR_934023.2:n.1340_1341del
NM_000018.4:c.1281_1282del MANE Select NP_000009.1:p.Trp427Ter
NM_001033859.3:c.1215_1216del NP_001029031.1:p.Trp405Ter
NM_001270447.2:c.1350_1351del NP_001257376.1:p.Trp450Ter
NM_001270448.2:c.1053_1054del NP_001257377.1:p.Trp351Ter