Canonical Allele Identifier: CA16619293
Gene: ACAD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 418783
ClinVar RCV Id: RCV000484986
dbSNP Id: rs1064793430

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.134253646_134253652del , CM000673.2:g.134253646_134253652del GRCh38
NC_000011.9:g.134123540_134123546del , CM000673.1:g.134123540_134123546del GRCh37
NC_000011.8:g.133628750_133628756del NCBI36
NG_015842.1:g.5107_5113del , LRG_448:g.5107_5113del

Transcript Alleles

HGVS Amino-acid change
ENST00000281182.9:c.46_52del MANE Select ENSP00000281182.5:p.Leu16AlafsTer14
ENST00000281182.8:c.46_52del ENSP00000281182.4:p.Leu16AlafsTer14
ENST00000374752.6:c.46_52del ENSP00000363884.4:p.Leu16AlafsTer14
ENST00000524426.5:c.46_52del ENSP00000431310.1:p.Leu16AlafsTer14
ENST00000524547.5:n.30_36del
ENST00000525961.1:n.83_89del
ENST00000526026.5:c.46_52del ENSP00000431532.1:p.Leu16AlafsTer14
ENST00000527082.5:n.70_76del
ENST00000530533.5:n.79_85del
ENST00000533387.5:n.78_84del
ENST00000534240.5:n.78_84del
ENST00000534433.5:n.88_94del
NM_014384.2:c.46_52del , LRG_448t1:c.46_52del NP_055199.1:p.Leu16AlafsTer14
XM_005271501.2:c.46_52del XP_005271558.1:p.Leu16AlafsTer14
XM_005271505.2:c.46_52del XP_005271562.1:p.Leu16AlafsTer14
XM_011542750.1:c.46_52del XP_011541052.1:p.Leu16AlafsTer14
XR_947819.1:n.110_116del
XR_947820.1:n.110_116del
XR_947821.1:n.110_116del
XR_947822.1:n.110_116del
XR_947823.1:n.83_89del
XM_005271505.4:c.46_52del XP_005271562.1:p.Leu16AlafsTer14
XM_011542750.3:c.46_52del XP_011541052.1:p.Leu16AlafsTer14
XM_017017542.2:c.46_52del XP_016873031.1:p.Leu16AlafsTer14
XM_017017543.2:c.46_52del XP_016873032.1:p.Leu16AlafsTer14
XM_017017544.2:c.46_52del XP_016873033.1:p.Leu16AlafsTer14
XM_017017545.2:c.46_52del XP_016873034.1:p.Leu16AlafsTer14
XM_017017546.2:c.-79_-73del XP_016873035.1:n.-79_-73del
XM_017017547.2:c.-79_-73del XP_016873036.1:n.-79_-73del
XM_017017548.2:c.46_52del XP_016873037.1:p.Leu16AlafsTer14
XM_017017549.2:c.46_52del XP_016873038.1:p.Leu16AlafsTer14
XM_024448437.1:c.46_52del XP_024304205.1:p.Leu16AlafsTer14
NM_014384.3:c.46_52del MANE Select NP_055199.1:p.Leu16AlafsTer14