Canonical Allele Identifier: CA2616918607
Gene: ACAD8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.134262665del , CM000673.2:g.134262665del GRCh38
NC_000011.9:g.134132559del , CM000673.1:g.134132559del GRCh37
NC_000011.8:g.133637769del NCBI36
NG_015842.1:g.14126del , LRG_448:g.14126del

Transcript Alleles

HGVS Amino-acid Change
ENST00000281182.9:c.1195+43del MANE Select ENSP00000281182.5:n.1195+43del
ENST00000281182.8:c.1195+43del ENSP00000281182.4:n.1195+43del
ENST00000374752.6:c.814+43del ENSP00000363884.4:n.814+43del
ENST00000524502.2:n.195+43del
ENST00000526026.5:c.*884+43del ENSP00000431532.1:n.*884+43del
ENST00000531338.5:n.1482del
ENST00000533387.5:n.2254+43del
NM_014384.2:c.1195+43del , LRG_448t1:c.1195+43del NP_055199.1:n.1195+43del
XM_005271501.2:c.1195+43del XP_005271558.1:n.1195+43del
XM_011542750.1:c.1195+43del XP_011541052.1:n.1195+43del
XR_947819.1:n.1259+43del
XR_947820.1:n.1690del
XR_947822.1:n.1089+43del
XR_947823.1:n.1245+43del
XM_005271505.4:c.*1460+43del XP_005271562.1:n.*1460+43del
XM_011542750.3:c.1195+43del XP_011541052.1:n.1195+43del
XM_017017542.2:c.1195+43del XP_016873031.1:n.1195+43del
XM_017017543.2:c.1195+43del XP_016873032.1:n.1195+43del
XM_017017544.2:c.*164+43del XP_016873033.1:n.*164+43del
XM_017017545.2:c.*450del XP_016873034.1:n.*450del
XM_017017546.2:c.901+43del XP_016873035.1:n.901+43del
XM_017017547.2:c.901+43del XP_016873036.1:n.901+43del
XM_017017548.2:c.*1831+43del XP_016873037.1:n.*1831+43del
XM_017017549.2:c.*1605+43del XP_016873038.1:n.*1605+43del
XM_024448437.1:c.*385del XP_024304205.1:n.*385del
XM_024448438.1:c.814+43del XP_024304206.1:n.814+43del
NM_014384.3:c.1195+43del MANE Select NP_055199.1:n.1195+43del