Canonical Allele Identifier: CA943830246

Gene: ACAD8

Linked Data

• dbSNP Id: rs1939980196
• gnomAD v3: 11-134262892-GA-G
• gnomAD v4: 11-134262892-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262893del , CM000673.2:g.134262893del	GRCh38
NC_000011.9:g.134132787del , CM000673.1:g.134132787del	GRCh37
NC_000011.8:g.133637997del	NCBI36
NG_015842.1:g.14354del , LRG_448:g.14354del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1195+271del MANE Select	ENSP00000281182.5:n.1195+271del
ENST00000281182.8:c.1195+271del	ENSP00000281182.4:n.1195+271del
ENST00000374752.6:c.814+271del	ENSP00000363884.4:n.814+271del
ENST00000524502.2:n.319del
ENST00000526026.5:c.*1008del	ENSP00000431532.1:n.*1008del
ENST00000531338.5:n.1710del
ENST00000533387.5:n.2254+271del
NM_014384.2:c.1195+271del , LRG_448t1:c.1195+271del	NP_055199.1:n.1195+271del
XM_005271501.2:c.*14del	XP_005271558.1:n.*14del
XM_011542750.1:c.1195+271del	XP_011541052.1:n.1195+271del
XR_947819.1:n.1259+271del
XR_947820.1:n.1918del
XR_947822.1:n.1089+271del
XR_947823.1:n.1245+271del
XM_005271505.4:c.*1460+271del	XP_005271562.1:n.*1460+271del
XM_011542750.3:c.1195+271del	XP_011541052.1:n.1195+271del
XM_017017542.2:c.1195+271del	XP_016873031.1:n.1195+271del
XM_017017543.2:c.*14del	XP_016873032.1:n.*14del
XM_017017544.2:c.*164+271del	XP_016873033.1:n.*164+271del
XM_017017545.2:c.*678del	XP_016873034.1:n.*678del
XM_017017546.2:c.901+271del	XP_016873035.1:n.901+271del
XM_017017547.2:c.901+271del	XP_016873036.1:n.901+271del
XM_017017548.2:c.*1955del	XP_016873037.1:n.*1955del
XM_017017549.2:c.*1605+271del	XP_016873038.1:n.*1605+271del
XM_024448437.1:c.*613del	XP_024304205.1:n.*613del
XM_024448438.1:c.814+271del	XP_024304206.1:n.814+271del
NM_014384.3:c.1195+271del MANE Select	NP_055199.1:n.1195+271del