Canonical Allele Identifier: CA2010874994
Gene: ACAD8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.134262819_134262820delinsCG , CM000673.2:g.134262819_134262820delinsCG GRCh38
NC_000011.9:g.134132713_134132714delinsCG , CM000673.1:g.134132713_134132714delinsCG GRCh37
NC_000011.8:g.133637923_133637924delinsCG NCBI36
NG_015842.1:g.14280_14281delinsCG , LRG_448:g.14280_14281delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000281182.9:c.1195+197_1195+198delinsCG MANE Select ENSP00000281182.5:n.1195+197_1195+198delinsCG
ENST00000281182.8:c.1195+197_1195+198delinsCG ENSP00000281182.4:n.1195+197_1195+198delinsCG
ENST00000374752.6:c.814+197_814+198delinsCG ENSP00000363884.4:n.814+197_814+198delinsCG
ENST00000524502.2:n.245_246delinsCG
ENST00000526026.5:c.*934_*935delinsCG ENSP00000431532.1:n.*934_*935delinsCG
ENST00000531338.5:n.1636_1637delinsCG
ENST00000533387.5:n.2254+197_2254+198delinsCG
NM_014384.2:c.1195+197_1195+198delinsCG , LRG_448t1:c.1195+197_1195+198delinsCG NP_055199.1:n.1195+197_1195+198delinsCG
XM_005271501.2:c.1245_1246delinsCG XP_005271558.1:p.Phe415=
XM_011542750.1:c.1195+197_1195+198delinsCG XP_011541052.1:n.1195+197_1195+198delinsCG
XR_947819.1:n.1259+197_1259+198delinsCG
XR_947820.1:n.1844_1845delinsCG
XR_947822.1:n.1089+197_1089+198delinsCG
XR_947823.1:n.1245+197_1245+198delinsCG
XM_005271505.4:c.*1460+197_*1460+198delinsCG XP_005271562.1:n.*1460+197_*1460+198delinsCG
XM_011542750.3:c.1195+197_1195+198delinsCG XP_011541052.1:n.1195+197_1195+198delinsCG
XM_017017542.2:c.1195+197_1195+198delinsCG XP_016873031.1:n.1195+197_1195+198delinsCG
XM_017017543.2:c.1245_1246delinsCG XP_016873032.1:p.Phe415=
XM_017017544.2:c.*164+197_*164+198delinsCG XP_016873033.1:n.*164+197_*164+198delinsCG
XM_017017545.2:c.*604_*605delinsCG XP_016873034.1:n.*604_*605delinsCG
XM_017017546.2:c.901+197_901+198delinsCG XP_016873035.1:n.901+197_901+198delinsCG
XM_017017547.2:c.901+197_901+198delinsCG XP_016873036.1:n.901+197_901+198delinsCG
XM_017017548.2:c.*1881_*1882delinsCG XP_016873037.1:n.*1881_*1882delinsCG
XM_017017549.2:c.*1605+197_*1605+198delinsCG XP_016873038.1:n.*1605+197_*1605+198delinsCG
XM_024448437.1:c.*539_*540delinsCG XP_024304205.1:n.*539_*540delinsCG
XM_024448438.1:c.814+197_814+198delinsCG XP_024304206.1:n.814+197_814+198delinsCG
NM_014384.3:c.1195+197_1195+198delinsCG MANE Select NP_055199.1:n.1195+197_1195+198delinsCG