Canonical Allele Identifier: CA2499216479

Gene: ACAD9

Linked Data

• ClinVar Variation Id: 1123178
• ClinVar RCV Id: RCV001454089
• dbSNP Id: rs2107663277
• gnomAD v4: 3-128909425-ACCAGGCCCTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128909433_128909442del , CM000665.2:g.128909433_128909442del	GRCh38
NC_000003.11:g.128628276_128628285del , CM000665.1:g.128628276_128628285del	GRCh37
NC_000003.10:g.130110966_130110975del	NCBI36
NG_017064.1:g.34944_34953del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.1563+12_1563+21del MANE Select	ENSP00000312618.7:n.1563+12_1563+21del
ENST00000511325.2:n.1653_1662del
ENST00000679399.1:c.*1734+12_*1734+21del	ENSP00000505434.1:n.*1734+12_*1734+21del
ENST00000679431.1:c.*1439+12_*1439+21del	ENSP00000506440.1:n.*1439+12_*1439+21del
ENST00000679613.1:c.1563+12_1563+21del	ENSP00000504971.1:n.1563+12_1563+21del
ENST00000679715.1:c.1194+12_1194+21del	ENSP00000506228.1:n.1194+12_1194+21del
ENST00000679824.1:c.*2869+12_*2869+21del	ENSP00000505516.1:n.*2869+12_*2869+21del
ENST00000679990.1:n.1810_1819del
ENST00000680636.1:c.1563+12_1563+21del	ENSP00000504886.1:n.1563+12_1563+21del
ENST00000680638.1:n.1328_1337del
ENST00000680744.1:c.*916+12_*916+21del	ENSP00000505243.1:n.*916+12_*916+21del
ENST00000680764.1:c.*2967+12_*2967+21del	ENSP00000505126.1:n.*2967+12_*2967+21del
ENST00000681319.1:n.2349+12_2349+21del
ENST00000681367.1:c.1563+12_1563+21del	ENSP00000505309.1:n.1563+12_1563+21del
ENST00000681552.1:c.1150-3074_1150-3065del	ENSP00000505699.1:n.1150-3074_1150-3065del
ENST00000681583.1:c.1563+12_1563+21del	ENSP00000506340.1:n.1563+12_1563+21del
ENST00000681585.1:c.*182+12_*182+21del	ENSP00000506316.1:n.*182+12_*182+21del
ENST00000681784.1:n.1653_1662del
ENST00000681886.1:c.*768_*777del	ENSP00000506500.1:n.*768_*777del
ENST00000308982.11:c.1563+12_1563+21del	ENSP00000312618.7:n.1563+12_1563+21del
ENST00000505867.5:c.*1363+12_*1363+21del	ENSP00000425346.1:n.*1363+12_*1363+21del
ENST00000508971.1:c.852+12_852+21del	ENSP00000422683.1:n.852+12_852+21del
ENST00000511227.5:c.*1457+12_*1457+21del	ENSP00000425226.1:n.*1457+12_*1457+21del
ENST00000511325.1:n.556_565del
ENST00000511526.5:n.1096+12_1096+21del
NM_014049.4:c.1563+12_1563+21del	NP_054768.2:n.1563+12_1563+21del
NR_033426.1:n.1941+12_1941+21del
XM_011512742.1:c.1194+12_1194+21del	XP_011511044.1:n.1194+12_1194+21del
XM_024453484.1:c.1194+12_1194+21del	XP_024309252.1:n.1194+12_1194+21del
XM_024453485.1:c.1194+12_1194+21del	XP_024309253.1:n.1194+12_1194+21del
XR_427367.3:n.1639+12_1639+21del
NM_014049.5:c.1563+12_1563+21del MANE Select	NP_054768.2:n.1563+12_1563+21del
NR_033426.2:n.1811+12_1811+21del