Canonical Allele Identifier: CA943830081
Gene: ACAD8 HGNC NCBI

Linked Data

dbSNP Id: rs1939948200

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.134262568_134262569del , CM000673.2:g.134262568_134262569del GRCh38
NC_000011.9:g.134132462_134132463del , CM000673.1:g.134132462_134132463del GRCh37
NC_000011.8:g.133637672_133637673del NCBI36
NG_015842.1:g.14029_14030del , LRG_448:g.14029_14030del

Transcript Alleles

HGVS Amino-acid Change
ENST00000281182.9:c.1141_1142del MANE Select ENSP00000281182.5:p.Asp381LeufsTer19
ENST00000281182.8:c.1141_1142del ENSP00000281182.4:p.Asp381LeufsTer19
ENST00000374752.6:c.760_761del ENSP00000363884.4:p.Asp254LeufsTer19
ENST00000524426.5:c.*871_*872del ENSP00000431310.1:n.*871_*872del
ENST00000524502.2:n.141_142del
ENST00000526026.5:c.*830_*831del ENSP00000431532.1:n.*830_*831del
ENST00000531338.5:n.1385_1386del
ENST00000533387.5:n.2200_2201del
NM_014384.2:c.1141_1142del , LRG_448t1:c.1141_1142del NP_055199.1:p.Asp381LeufsTer19
XM_005271501.2:c.1141_1142del XP_005271558.1:p.Asp381LeufsTer?
XM_011542750.1:c.1141_1142del XP_011541052.1:p.Asp381LeufsTer?
XR_947819.1:n.1205_1206del
XR_947820.1:n.1593_1594del
XR_947821.1:n.1350_1351del
XR_947822.1:n.1035_1036del
XR_947823.1:n.1191_1192del
XM_005271505.4:c.*1406_*1407del XP_005271562.1:n.*1406_*1407del
XM_011542750.3:c.1141_1142del XP_011541052.1:p.Asp381LeufsTer?
XM_017017542.2:c.1141_1142del XP_016873031.1:p.Asp381LeufsTer?
XM_017017543.2:c.1141_1142del XP_016873032.1:p.Asp381LeufsTer?
XM_017017544.2:c.*110_*111del XP_016873033.1:n.*110_*111del
XM_017017545.2:c.*353_*354del XP_016873034.1:n.*353_*354del
XM_017017546.2:c.847_848del XP_016873035.1:p.Asp283LeufsTer?
XM_017017547.2:c.847_848del XP_016873036.1:p.Asp283LeufsTer19
XM_017017548.2:c.*1777_*1778del XP_016873037.1:n.*1777_*1778del
XM_017017549.2:c.*1551_*1552del XP_016873038.1:n.*1551_*1552del
XM_024448437.1:c.*288_*289del XP_024304205.1:n.*288_*289del
XM_024448438.1:c.760_761del XP_024304206.1:p.Asp254LeufsTer?
NM_014384.3:c.1141_1142del MANE Select NP_055199.1:p.Asp381LeufsTer19