Canonical Allele Identifier: CA2616918633

Gene: ACAD8

Linked Data

• gnomAD v4: 11-134262666-C-CAGCGATCCCGTCCCCGTTCTGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262666_134262667insAGCGATCCCGTCCCCGTTCTGAA , CM000673.2:g.134262666_134262667insAGCGATCCCGTCCCCGTTCTGAA	GRCh38
NC_000011.9:g.134132560_134132561insAGCGATCCCGTCCCCGTTCTGAA , CM000673.1:g.134132560_134132561insAGCGATCCCGTCCCCGTTCTGAA	GRCh37
NC_000011.8:g.133637770_133637771insAGCGATCCCGTCCCCGTTCTGAA	NCBI36
NG_015842.1:g.14127_14128insAGCGATCCCGTCCCCGTTCTGAA , LRG_448:g.14127_14128insAGCGATCCCGTCCCCGTTCTGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1195+44_1195+45insAGCGATCCCGTCCCCGTTCTGAA MANE Select	ENSP00000281182.5:n.1195+44_1195+45insAGCGATCCCGTCCCCGTTCTGAA...
ENST00000281182.8:c.1195+44_1195+45insAGCGATCCCGTCCCCGTTCTGAA	ENSP00000281182.4:n.1195+44_1195+45insAGCGATCCCGTCCCCGTTCTGAA...
ENST00000374752.6:c.814+44_814+45insAGCGATCCCGTCCCCGTTCTGAA	ENSP00000363884.4:n.814+44_814+45insAGCGATCCCGTCCCCGTTCTGAA
ENST00000524502.2:n.195+44_195+45insAGCGATCCCGTCCCCGTTCTGAA
ENST00000526026.5:c.*884+44_*884+45insAGCGATCCCGTCCCCGTTCTGAA	ENSP00000431532.1:n.*884+44_*884+45insAGCGATCCCGTCCCCGTTCTGAA...
ENST00000531338.5:n.1483_1484insAGCGATCCCGTCCCCGTTCTGAA
ENST00000533387.5:n.2254+44_2254+45insAGCGATCCCGTCCCCGTTCTGAA
NM_014384.2:c.1195+44_1195+45insAGCGATCCCGTCCCCGTTCTGAA , LRG_448t1:c.1195+44_1195+45insAGCGATCCCGTCCCCGTTCTGAA	NP_055199.1:n.1195+44_1195+45insAGCGATCCCGTCCCCGTTCTGAA
XM_005271501.2:c.1195+44_1195+45insAGCGATCCCGTCCCCGTTCTGAA	XP_005271558.1:n.1195+44_1195+45insAGCGATCCCGTCCCCGTTCTGAA
XM_011542750.1:c.1195+44_1195+45insAGCGATCCCGTCCCCGTTCTGAA	XP_011541052.1:n.1195+44_1195+45insAGCGATCCCGTCCCCGTTCTGAA
XR_947819.1:n.1259+44_1259+45insAGCGATCCCGTCCCCGTTCTGAA
XR_947820.1:n.1691_1692insAGCGATCCCGTCCCCGTTCTGAA
XR_947822.1:n.1089+44_1089+45insAGCGATCCCGTCCCCGTTCTGAA
XR_947823.1:n.1245+44_1245+45insAGCGATCCCGTCCCCGTTCTGAA
XM_005271505.4:c.*1460+44_*1460+45insAGCGATCCCGTCCCCGTTCTGAA	XP_005271562.1:n.*1460+44_*1460+45insAGCGATCCCGTCCCCGTTCTGAA
XM_011542750.3:c.1195+44_1195+45insAGCGATCCCGTCCCCGTTCTGAA	XP_011541052.1:n.1195+44_1195+45insAGCGATCCCGTCCCCGTTCTGAA
XM_017017542.2:c.1195+44_1195+45insAGCGATCCCGTCCCCGTTCTGAA	XP_016873031.1:n.1195+44_1195+45insAGCGATCCCGTCCCCGTTCTGAA
XM_017017543.2:c.1195+44_1195+45insAGCGATCCCGTCCCCGTTCTGAA	XP_016873032.1:n.1195+44_1195+45insAGCGATCCCGTCCCCGTTCTGAA
XM_017017544.2:c.*164+44_*164+45insAGCGATCCCGTCCCCGTTCTGAA	XP_016873033.1:n.*164+44_*164+45insAGCGATCCCGTCCCCGTTCTGAA
XM_017017545.2:c.*451_*452insAGCGATCCCGTCCCCGTTCTGAA	XP_016873034.1:n.*451_*452insAGCGATCCCGTCCCCGTTCTGAA
XM_017017546.2:c.901+44_901+45insAGCGATCCCGTCCCCGTTCTGAA	XP_016873035.1:n.901+44_901+45insAGCGATCCCGTCCCCGTTCTGAA
XM_017017547.2:c.901+44_901+45insAGCGATCCCGTCCCCGTTCTGAA	XP_016873036.1:n.901+44_901+45insAGCGATCCCGTCCCCGTTCTGAA
XM_017017548.2:c.*1831+44_*1831+45insAGCGATCCCGTCCCCGTTCTGAA	XP_016873037.1:n.*1831+44_*1831+45insAGCGATCCCGTCCCCGTTCTGAA
XM_017017549.2:c.*1605+44_*1605+45insAGCGATCCCGTCCCCGTTCTGAA	XP_016873038.1:n.*1605+44_*1605+45insAGCGATCCCGTCCCCGTTCTGAA
XM_024448437.1:c.*386_*387insAGCGATCCCGTCCCCGTTCTGAA	XP_024304205.1:n.*386_*387insAGCGATCCCGTCCCCGTTCTGAA
XM_024448438.1:c.814+44_814+45insAGCGATCCCGTCCCCGTTCTGAA	XP_024304206.1:n.814+44_814+45insAGCGATCCCGTCCCCGTTCTGAA
NM_014384.3:c.1195+44_1195+45insAGCGATCCCGTCCCCGTTCTGAA MANE Select	NP_055199.1:n.1195+44_1195+45insAGCGATCCCGTCCCCGTTCTGAA