Canonical Allele Identifier: CA602657118

Gene: ACAD8

Linked Data

• dbSNP Id: rs1474430071
• gnomAD v2: 11-134132473-TCAG-T
• gnomAD v4: 11-134262579-TCAG-T
• MyVariant Identifiers: chr11:g.134132474_134132476del (hg19) ; chr11:g.134262580_134262582del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262583_134262585del , CM000673.2:g.134262583_134262585del	GRCh38
NC_000011.9:g.134132477_134132479del , CM000673.1:g.134132477_134132479del	GRCh37
NC_000011.8:g.133637687_133637689del	NCBI36
NG_015842.1:g.14044_14046del , LRG_448:g.14044_14046del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1156_1158del MANE Select	ENSP00000281182.5:p.Gln386del
ENST00000281182.8:c.1156_1158del	ENSP00000281182.4:p.Gln386del
ENST00000374752.6:c.775_777del	ENSP00000363884.4:p.Gln259del
ENST00000524426.5:c.*886_*888del	ENSP00000431310.1:n.*886_*888del
ENST00000524502.2:n.156_158del
ENST00000526026.5:c.*845_*847del	ENSP00000431532.1:n.*845_*847del
ENST00000531338.5:n.1400_1402del
ENST00000533387.5:n.2215_2217del
NM_014384.2:c.1156_1158del , LRG_448t1:c.1156_1158del	NP_055199.1:p.Gln386del
XM_005271501.2:c.1156_1158del	XP_005271558.1:p.Gln386del
XM_011542750.1:c.1156_1158del	XP_011541052.1:p.Gln386del
XR_947819.1:n.1220_1222del
XR_947820.1:n.1608_1610del
XR_947821.1:n.1365_1367del
XR_947822.1:n.1050_1052del
XR_947823.1:n.1206_1208del
XM_005271505.4:c.*1421_*1423del	XP_005271562.1:n.*1421_*1423del
XM_011542750.3:c.1156_1158del	XP_011541052.1:p.Gln386del
XM_017017542.2:c.1156_1158del	XP_016873031.1:p.Gln386del
XM_017017543.2:c.1156_1158del	XP_016873032.1:p.Gln386del
XM_017017544.2:c.*125_*127del	XP_016873033.1:n.*125_*127del
XM_017017545.2:c.*368_*370del	XP_016873034.1:n.*368_*370del
XM_017017546.2:c.862_864del	XP_016873035.1:p.Gln288del
XM_017017547.2:c.862_864del	XP_016873036.1:p.Gln288del
XM_017017548.2:c.*1792_*1794del	XP_016873037.1:n.*1792_*1794del
XM_017017549.2:c.*1566_*1568del	XP_016873038.1:n.*1566_*1568del
XM_024448437.1:c.*303_*305del	XP_024304205.1:n.*303_*305del
XM_024448438.1:c.775_777del	XP_024304206.1:p.Gln259del
NM_014384.3:c.1156_1158del MANE Select	NP_055199.1:p.Gln386del