Canonical Allele Identifier: CA2573147045

Gene: ACAD8

Linked Data

• ClinVar Variation Id: 1670803
• ClinVar RCV Id: RCV002196174
• dbSNP Id: rs2136084544

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262629_134262630delinsTA , CM000673.2:g.134262629_134262630delinsTA	GRCh38
NC_000011.9:g.134132523_134132524delinsTA , CM000673.1:g.134132523_134132524delinsTA	GRCh37
NC_000011.8:g.133637733_133637734delinsTA	NCBI36
NG_015842.1:g.14090_14091delinsTA , LRG_448:g.14090_14091delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1195+7_1195+8delinsTA MANE Select	ENSP00000281182.5:n.1195+7_1195+8delinsTA
ENST00000281182.8:c.1195+7_1195+8delinsTA	ENSP00000281182.4:n.1195+7_1195+8delinsTA
ENST00000374752.6:c.814+7_814+8delinsTA	ENSP00000363884.4:n.814+7_814+8delinsTA
ENST00000524502.2:n.195+7_195+8delinsTA
ENST00000526026.5:c.*884+7_*884+8delinsTA	ENSP00000431532.1:n.*884+7_*884+8delinsTA
ENST00000531338.5:n.1446_1447delinsTA
ENST00000533387.5:n.2254+7_2254+8delinsTA
NM_014384.2:c.1195+7_1195+8delinsTA , LRG_448t1:c.1195+7_1195+8delinsTA	NP_055199.1:n.1195+7_1195+8delinsTA
XM_005271501.2:c.1195+7_1195+8delinsTA	XP_005271558.1:n.1195+7_1195+8delinsTA
XM_011542750.1:c.1195+7_1195+8delinsTA	XP_011541052.1:n.1195+7_1195+8delinsTA
XR_947819.1:n.1259+7_1259+8delinsTA
XR_947820.1:n.1654_1655delinsTA
XR_947822.1:n.1089+7_1089+8delinsTA
XR_947823.1:n.1245+7_1245+8delinsTA
XM_005271505.4:c.*1460+7_*1460+8delinsTA	XP_005271562.1:n.*1460+7_*1460+8delinsTA
XM_011542750.3:c.1195+7_1195+8delinsTA	XP_011541052.1:n.1195+7_1195+8delinsTA
XM_017017542.2:c.1195+7_1195+8delinsTA	XP_016873031.1:n.1195+7_1195+8delinsTA
XM_017017543.2:c.1195+7_1195+8delinsTA	XP_016873032.1:n.1195+7_1195+8delinsTA
XM_017017544.2:c.*164+7_*164+8delinsTA	XP_016873033.1:n.*164+7_*164+8delinsTA
XM_017017545.2:c.*414_*415delinsTA	XP_016873034.1:n.*414_*415delinsTA
XM_017017546.2:c.901+7_901+8delinsTA	XP_016873035.1:n.901+7_901+8delinsTA
XM_017017547.2:c.901+7_901+8delinsTA	XP_016873036.1:n.901+7_901+8delinsTA
XM_017017548.2:c.*1831+7_*1831+8delinsTA	XP_016873037.1:n.*1831+7_*1831+8delinsTA
XM_017017549.2:c.*1605+7_*1605+8delinsTA	XP_016873038.1:n.*1605+7_*1605+8delinsTA
XM_024448437.1:c.*349_*350delinsTA	XP_024304205.1:n.*349_*350delinsTA
XM_024448438.1:c.814+7_814+8delinsTA	XP_024304206.1:n.814+7_814+8delinsTA
NM_014384.3:c.1195+7_1195+8delinsTA MANE Select	NP_055199.1:n.1195+7_1195+8delinsTA