Canonical Allele Identifier: CA2616918333

Gene: ACAD8

Linked Data

• gnomAD v4: 11-134262551-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262552del , CM000673.2:g.134262552del	GRCh38
NC_000011.9:g.134132446del , CM000673.1:g.134132446del	GRCh37
NC_000011.8:g.133637656del	NCBI36
NG_015842.1:g.14013del , LRG_448:g.14013del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1125del MANE Select	ENSP00000281182.5:p.Tyr376ThrfsTer4
ENST00000281182.8:c.1125del	ENSP00000281182.4:p.Tyr376ThrfsTer4
ENST00000374752.6:c.744del	ENSP00000363884.4:p.Tyr249ThrfsTer4
ENST00000524426.5:c.*855del	ENSP00000431310.1:n.*855del
ENST00000524502.2:n.125del
ENST00000526026.5:c.*814del	ENSP00000431532.1:n.*814del
ENST00000531338.5:n.1369del
ENST00000533387.5:n.2184del
NM_014384.2:c.1125del , LRG_448t1:c.1125del	NP_055199.1:p.Tyr376ThrfsTer4
XM_005271501.2:c.1125del	XP_005271558.1:p.Tyr376ThrfsTer4
XM_011542750.1:c.1125del	XP_011541052.1:p.Tyr376ThrfsTer4
XR_947819.1:n.1189del
XR_947820.1:n.1577del
XR_947821.1:n.1334del
XR_947822.1:n.1019del
XR_947823.1:n.1175del
XM_005271505.4:c.*1390del	XP_005271562.1:n.*1390del
XM_011542750.3:c.1125del	XP_011541052.1:p.Tyr376ThrfsTer4
XM_017017542.2:c.1125del	XP_016873031.1:p.Tyr376ThrfsTer4
XM_017017543.2:c.1125del	XP_016873032.1:p.Tyr376ThrfsTer4
XM_017017544.2:c.*94del	XP_016873033.1:n.*94del
XM_017017545.2:c.*337del	XP_016873034.1:n.*337del
XM_017017546.2:c.831del	XP_016873035.1:p.Tyr278ThrfsTer4
XM_017017547.2:c.831del	XP_016873036.1:p.Tyr278ThrfsTer4
XM_017017548.2:c.*1761del	XP_016873037.1:n.*1761del
XM_017017549.2:c.*1535del	XP_016873038.1:n.*1535del
XM_024448437.1:c.*272del	XP_024304205.1:n.*272del
XM_024448438.1:c.744del	XP_024304206.1:p.Tyr249ThrfsTer4
NM_014384.3:c.1125del MANE Select	NP_055199.1:p.Tyr376ThrfsTer4