Canonical Allele Identifier: CA673792538

Gene: ACAD8

Linked Data

• dbSNP Id: rs1163755743
• gnomAD v4: 11-134262819-CG-C
• MyVariant Identifiers: chr11:g.134132714del (hg19) ; chr11:g.134262820del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262825del , CM000673.2:g.134262825del	GRCh38
NC_000011.9:g.134132719del , CM000673.1:g.134132719del	GRCh37
NC_000011.8:g.133637929del	NCBI36
NG_015842.1:g.14286del , LRG_448:g.14286del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1195+203del MANE Select	ENSP00000281182.5:n.1195+203del
ENST00000281182.8:c.1195+203del	ENSP00000281182.4:n.1195+203del
ENST00000374752.6:c.814+203del	ENSP00000363884.4:n.814+203del
ENST00000524502.2:n.251del
ENST00000526026.5:c.*940del	ENSP00000431532.1:n.*940del
ENST00000531338.5:n.1642del
ENST00000533387.5:n.2254+203del
NM_014384.2:c.1195+203del , LRG_448t1:c.1195+203del	NP_055199.1:n.1195+203del
XM_005271501.2:c.1251del	XP_005271558.1:p.Pro418LeufsTer21
XM_011542750.1:c.1195+203del	XP_011541052.1:n.1195+203del
XR_947819.1:n.1259+203del
XR_947820.1:n.1850del
XR_947822.1:n.1089+203del
XR_947823.1:n.1245+203del
XM_005271505.4:c.*1460+203del	XP_005271562.1:n.*1460+203del
XM_011542750.3:c.1195+203del	XP_011541052.1:n.1195+203del
XM_017017542.2:c.1195+203del	XP_016873031.1:n.1195+203del
XM_017017543.2:c.1251del	XP_016873032.1:p.Pro418LeufsTer21
XM_017017544.2:c.*164+203del	XP_016873033.1:n.*164+203del
XM_017017545.2:c.*610del	XP_016873034.1:n.*610del
XM_017017546.2:c.901+203del	XP_016873035.1:n.901+203del
XM_017017547.2:c.901+203del	XP_016873036.1:n.901+203del
XM_017017548.2:c.*1887del	XP_016873037.1:n.*1887del
XM_017017549.2:c.*1605+203del	XP_016873038.1:n.*1605+203del
XM_024448437.1:c.*545del	XP_024304205.1:n.*545del
XM_024448438.1:c.814+203del	XP_024304206.1:n.814+203del
NM_014384.3:c.1195+203del MANE Select	NP_055199.1:n.1195+203del