Canonical Allele Identifier: CA231280365

Gene: ACAD8

Linked Data

• dbSNP Id: rs963691595
• gnomAD v2: 11-134132851-CAG-C
• gnomAD v3: 11-134262957-CAG-C
• gnomAD v4: 11-134262957-CAG-C
• MyVariant Identifiers: chr11:g.134132852_134132853del (hg19) ; chr11:g.134262958_134262959del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262958_134262959del , CM000673.2:g.134262958_134262959del	GRCh38
NC_000011.9:g.134132852_134132853del , CM000673.1:g.134132852_134132853del	GRCh37
NC_000011.8:g.133638062_133638063del	NCBI36
NG_015842.1:g.14419_14420del , LRG_448:g.14419_14420del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1195+336_1195+337del MANE Select	ENSP00000281182.5:n.1195+336_1195+337del
ENST00000281182.8:c.1195+336_1195+337del	ENSP00000281182.4:n.1195+336_1195+337del
ENST00000374752.6:c.814+336_814+337del	ENSP00000363884.4:n.814+336_814+337del
ENST00000524502.2:n.384_385del
ENST00000531338.5:n.1775_1776del
ENST00000533387.5:n.2254+336_2254+337del
NM_014384.2:c.1195+336_1195+337del , LRG_448t1:c.1195+336_1195+337del	NP_055199.1:n.1195+336_1195+337del
XM_005271501.2:c.*79_*80del	XP_005271558.1:n.*79_*80del
XM_011542750.1:c.1195+336_1195+337del	XP_011541052.1:n.1195+336_1195+337del
XR_947819.1:n.1259+336_1259+337del
XR_947820.1:n.1983_1984del
XR_947822.1:n.1089+336_1089+337del
XR_947823.1:n.1245+336_1245+337del
XM_005271505.4:c.*1460+336_*1460+337del	XP_005271562.1:n.*1460+336_*1460+337del
XM_011542750.3:c.1195+336_1195+337del	XP_011541052.1:n.1195+336_1195+337del
XM_017017542.2:c.1195+336_1195+337del	XP_016873031.1:n.1195+336_1195+337del
XM_017017543.2:c.*79_*80del	XP_016873032.1:n.*79_*80del
XM_017017544.2:c.*164+336_*164+337del	XP_016873033.1:n.*164+336_*164+337del
XM_017017545.2:c.*743_*744del	XP_016873034.1:n.*743_*744del
XM_017017546.2:c.901+336_901+337del	XP_016873035.1:n.901+336_901+337del
XM_017017547.2:c.901+336_901+337del	XP_016873036.1:n.901+336_901+337del
XM_017017548.2:c.*2020_*2021del	XP_016873037.1:n.*2020_*2021del
XM_017017549.2:c.*1605+336_*1605+337del	XP_016873038.1:n.*1605+336_*1605+337del
XM_024448437.1:c.*678_*679del	XP_024304205.1:n.*678_*679del
XM_024448438.1:c.814+336_814+337del	XP_024304206.1:n.814+336_814+337del
NM_014384.3:c.1195+336_1195+337del MANE Select	NP_055199.1:n.1195+336_1195+337del