Canonical Allele Identifier: CA2010874538
Gene: ACAD8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.134262563_134262566delinsTGAA , CM000673.2:g.134262563_134262566delinsTGAA GRCh38
NC_000011.9:g.134132457_134132460delinsTGAA , CM000673.1:g.134132457_134132460delinsTGAA GRCh37
NC_000011.8:g.133637667_133637670delinsTGAA NCBI36
NG_015842.1:g.14024_14027delinsTGAA , LRG_448:g.14024_14027delinsTGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000281182.9:c.1136_1139delinsTGAA MANE Select ENSP00000281182.5:p.Leu379=
ENST00000281182.8:c.1136_1139delinsTGAA ENSP00000281182.4:p.Leu379=
ENST00000374752.6:c.755_758delinsTGAA ENSP00000363884.4:p.Leu252=
ENST00000524426.5:c.*866_*869delinsTGAA ENSP00000431310.1:n.*866_*869delinsTGAA
ENST00000524502.2:n.136_139delinsTGAA
ENST00000526026.5:c.*825_*828delinsTGAA ENSP00000431532.1:n.*825_*828delinsTGAA
ENST00000531338.5:n.1380_1383delinsTGAA
ENST00000533387.5:n.2195_2198delinsTGAA
NM_014384.2:c.1136_1139delinsTGAA , LRG_448t1:c.1136_1139delinsTGAA NP_055199.1:p.Leu379=
XM_005271501.2:c.1136_1139delinsTGAA XP_005271558.1:p.Leu379=
XM_011542750.1:c.1136_1139delinsTGAA XP_011541052.1:p.Leu379=
XR_947819.1:n.1200_1203delinsTGAA
XR_947820.1:n.1588_1591delinsTGAA
XR_947821.1:n.1345_1348delinsTGAA
XR_947822.1:n.1030_1033delinsTGAA
XR_947823.1:n.1186_1189delinsTGAA
XM_005271505.4:c.*1401_*1404delinsTGAA XP_005271562.1:n.*1401_*1404delinsTGAA
XM_011542750.3:c.1136_1139delinsTGAA XP_011541052.1:p.Leu379=
XM_017017542.2:c.1136_1139delinsTGAA XP_016873031.1:p.Leu379=
XM_017017543.2:c.1136_1139delinsTGAA XP_016873032.1:p.Leu379=
XM_017017544.2:c.*105_*108delinsTGAA XP_016873033.1:n.*105_*108delinsTGAA
XM_017017545.2:c.*348_*351delinsTGAA XP_016873034.1:n.*348_*351delinsTGAA
XM_017017546.2:c.842_845delinsTGAA XP_016873035.1:p.Leu281=
XM_017017547.2:c.842_845delinsTGAA XP_016873036.1:p.Leu281=
XM_017017548.2:c.*1772_*1775delinsTGAA XP_016873037.1:n.*1772_*1775delinsTGAA
XM_017017549.2:c.*1546_*1549delinsTGAA XP_016873038.1:n.*1546_*1549delinsTGAA
XM_024448437.1:c.*283_*286delinsTGAA XP_024304205.1:n.*283_*286delinsTGAA
XM_024448438.1:c.755_758delinsTGAA XP_024304206.1:p.Leu252=
NM_014384.3:c.1136_1139delinsTGAA MANE Select NP_055199.1:p.Leu379=