Canonical Allele Identifier: CA2616918473
Gene: ACAD8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.134262604del , CM000673.2:g.134262604del GRCh38
NC_000011.9:g.134132498del , CM000673.1:g.134132498del GRCh37
NC_000011.8:g.133637708del NCBI36
NG_015842.1:g.14065del , LRG_448:g.14065del

Transcript Alleles

HGVS Amino-acid Change
ENST00000281182.9:c.1177del MANE Select ENSP00000281182.5:p.Val393SerfsTer5
ENST00000281182.8:c.1177del ENSP00000281182.4:p.Val393SerfsTer5
ENST00000374752.6:c.796del ENSP00000363884.4:p.Val266SerfsTer5
ENST00000524426.5:c.*907del ENSP00000431310.1:n.*907del
ENST00000524502.2:n.177del
ENST00000526026.5:c.*866del ENSP00000431532.1:n.*866del
ENST00000531338.5:n.1421del
ENST00000533387.5:n.2236del
NM_014384.2:c.1177del , LRG_448t1:c.1177del NP_055199.1:p.Val393SerfsTer5
XM_005271501.2:c.1177del XP_005271558.1:p.Val393SerfsTer5
XM_011542750.1:c.1177del XP_011541052.1:p.Val393SerfsTer5
XR_947819.1:n.1241del
XR_947820.1:n.1629del
XR_947822.1:n.1071del
XR_947823.1:n.1227del
XM_005271505.4:c.*1442del XP_005271562.1:n.*1442del
XM_011542750.3:c.1177del XP_011541052.1:p.Val393SerfsTer5
XM_017017542.2:c.1177del XP_016873031.1:p.Val393SerfsTer5
XM_017017543.2:c.1177del XP_016873032.1:p.Val393SerfsTer5
XM_017017544.2:c.*146del XP_016873033.1:n.*146del
XM_017017545.2:c.*389del XP_016873034.1:n.*389del
XM_017017546.2:c.883del XP_016873035.1:p.Val295SerfsTer5
XM_017017547.2:c.883del XP_016873036.1:p.Val295SerfsTer5
XM_017017548.2:c.*1813del XP_016873037.1:n.*1813del
XM_017017549.2:c.*1587del XP_016873038.1:n.*1587del
XM_024448437.1:c.*324del XP_024304205.1:n.*324del
XM_024448438.1:c.796del XP_024304206.1:p.Val266SerfsTer5
NM_014384.3:c.1177del MANE Select NP_055199.1:p.Val393SerfsTer5