Canonical Allele Identifier: CA673792237
Gene: ACAD8 HGNC NCBI

Linked Data

dbSNP Id: rs1274874977

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.134262565_134262567del , CM000673.2:g.134262565_134262567del GRCh38
NC_000011.9:g.134132459_134132461del , CM000673.1:g.134132459_134132461del GRCh37
NC_000011.8:g.133637669_133637671del NCBI36
NG_015842.1:g.14026_14028del , LRG_448:g.14026_14028del

Transcript Alleles

HGVS Amino-acid Change
ENST00000281182.9:c.1138_1140del MANE Select ENSP00000281182.5:p.Lys380del
ENST00000281182.8:c.1138_1140del ENSP00000281182.4:p.Lys380del
ENST00000374752.6:c.757_759del ENSP00000363884.4:p.Lys253del
ENST00000524426.5:c.*868_*870del ENSP00000431310.1:n.*868_*870del
ENST00000524502.2:n.138_140del
ENST00000526026.5:c.*827_*829del ENSP00000431532.1:n.*827_*829del
ENST00000531338.5:n.1382_1384del
ENST00000533387.5:n.2197_2199del
NM_014384.2:c.1138_1140del , LRG_448t1:c.1138_1140del NP_055199.1:p.Lys380del
XM_005271501.2:c.1138_1140del XP_005271558.1:p.Lys380del
XM_011542750.1:c.1138_1140del XP_011541052.1:p.Lys380del
XR_947819.1:n.1202_1204del
XR_947820.1:n.1590_1592del
XR_947821.1:n.1347_1349del
XR_947822.1:n.1032_1034del
XR_947823.1:n.1188_1190del
XM_005271505.4:c.*1403_*1405del XP_005271562.1:n.*1403_*1405del
XM_011542750.3:c.1138_1140del XP_011541052.1:p.Lys380del
XM_017017542.2:c.1138_1140del XP_016873031.1:p.Lys380del
XM_017017543.2:c.1138_1140del XP_016873032.1:p.Lys380del
XM_017017544.2:c.*107_*109del XP_016873033.1:n.*107_*109del
XM_017017545.2:c.*350_*352del XP_016873034.1:n.*350_*352del
XM_017017546.2:c.844_846del XP_016873035.1:p.Lys282del
XM_017017547.2:c.844_846del XP_016873036.1:p.Lys282del
XM_017017548.2:c.*1774_*1776del XP_016873037.1:n.*1774_*1776del
XM_017017549.2:c.*1548_*1550del XP_016873038.1:n.*1548_*1550del
XM_024448437.1:c.*285_*287del XP_024304205.1:n.*285_*287del
XM_024448438.1:c.757_759del XP_024304206.1:p.Lys253del
NM_014384.3:c.1138_1140del MANE Select NP_055199.1:p.Lys380del