Canonical Allele Identifier: CA2575035324
Gene: ACAD8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.134262858_134262859del , CM000673.2:g.134262858_134262859del GRCh38
NC_000011.9:g.134132752_134132753del , CM000673.1:g.134132752_134132753del GRCh37
NC_000011.8:g.133637962_133637963del NCBI36
NG_015842.1:g.14319_14320del , LRG_448:g.14319_14320del

Transcript Alleles

HGVS Amino-acid Change
ENST00000281182.9:c.1195+236_1195+237del MANE Select ENSP00000281182.5:n.1195+236_1195+237del
ENST00000281182.8:c.1195+236_1195+237del ENSP00000281182.4:n.1195+236_1195+237del
ENST00000374752.6:c.814+236_814+237del ENSP00000363884.4:n.814+236_814+237del
ENST00000524502.2:n.284_285del
ENST00000526026.5:c.*973_*974del ENSP00000431532.1:n.*973_*974del
ENST00000531338.5:n.1675_1676del
ENST00000533387.5:n.2254+236_2254+237del
NM_014384.2:c.1195+236_1195+237del , LRG_448t1:c.1195+236_1195+237del NP_055199.1:n.1195+236_1195+237del
XM_005271501.2:c.1284_1285del XP_005271558.1:p.Gly429ArgfsTer8
XM_011542750.1:c.1195+236_1195+237del XP_011541052.1:n.1195+236_1195+237del
XR_947819.1:n.1259+236_1259+237del
XR_947820.1:n.1883_1884del
XR_947822.1:n.1089+236_1089+237del
XR_947823.1:n.1245+236_1245+237del
XM_005271505.4:c.*1460+236_*1460+237del XP_005271562.1:n.*1460+236_*1460+237del
XM_011542750.3:c.1195+236_1195+237del XP_011541052.1:n.1195+236_1195+237del
XM_017017542.2:c.1195+236_1195+237del XP_016873031.1:n.1195+236_1195+237del
XM_017017543.2:c.1284_1285del XP_016873032.1:p.Gly429ArgfsTer8
XM_017017544.2:c.*164+236_*164+237del XP_016873033.1:n.*164+236_*164+237del
XM_017017545.2:c.*643_*644del XP_016873034.1:n.*643_*644del
XM_017017546.2:c.901+236_901+237del XP_016873035.1:n.901+236_901+237del
XM_017017547.2:c.901+236_901+237del XP_016873036.1:n.901+236_901+237del
XM_017017548.2:c.*1920_*1921del XP_016873037.1:n.*1920_*1921del
XM_017017549.2:c.*1605+236_*1605+237del XP_016873038.1:n.*1605+236_*1605+237del
XM_024448437.1:c.*578_*579del XP_024304205.1:n.*578_*579del
XM_024448438.1:c.814+236_814+237del XP_024304206.1:n.814+236_814+237del
NM_014384.3:c.1195+236_1195+237del MANE Select NP_055199.1:n.1195+236_1195+237del