Canonical Allele Identifier: CA2601369

Gene: ACAD9

Linked Data

• dbSNP Id: rs780877486
• ExAC: 3:128622929 CA / C
• gnomAD v2: 3-128622929-CA-C
• MyVariant Identifiers: chr3:g.128622930del (hg19) ; chr3:g.128904087del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128904088del , CM000665.2:g.128904088del	GRCh38
NC_000003.11:g.128622931del , CM000665.1:g.128622931del	GRCh37
NC_000003.10:g.130105621del	NCBI36
NG_017064.1:g.29599del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.985del MANE Select	ENSP00000312618.7:p.Arg329GlyfsTer13
ENST00000511325.2:n.1063del
ENST00000679399.1:c.*879del	ENSP00000505434.1:n.*879del
ENST00000679431.1:c.*861del	ENSP00000506440.1:n.*861del
ENST00000679613.1:c.985del	ENSP00000504971.1:p.Arg329GlyfsTer13
ENST00000679715.1:c.616del	ENSP00000506228.1:p.Arg206GlyfsTer13
ENST00000679824.1:c.*2291del	ENSP00000505516.1:n.*2291del
ENST00000679990.1:n.1220del
ENST00000680636.1:c.985del	ENSP00000504886.1:p.Arg329GlyfsTer13
ENST00000680744.1:c.*338del	ENSP00000505243.1:n.*338del
ENST00000680764.1:c.*2389del	ENSP00000505126.1:n.*2389del
ENST00000681319.1:n.1063del
ENST00000681367.1:c.985del	ENSP00000505309.1:p.Arg329GlyfsTer13
ENST00000681552.1:c.985del	ENSP00000505699.1:p.Arg329GlyfsTer13
ENST00000681583.1:c.985del	ENSP00000506340.1:p.Arg329GlyfsTer13
ENST00000681585.1:c.985del	ENSP00000506316.1:p.Arg329GlyfsTer13
ENST00000681589.1:n.1199del
ENST00000681784.1:n.1063del
ENST00000681886.1:c.*178del	ENSP00000506500.1:n.*178del
ENST00000308982.11:c.985del	ENSP00000312618.7:p.Arg329GlyfsTer13
ENST00000505192.5:c.*681del	ENSP00000426277.1:n.*681del
ENST00000505867.5:c.*785del	ENSP00000425346.1:n.*785del
ENST00000508971.1:c.274del	ENSP00000422683.1:p.Arg92GlyfsTer13
ENST00000511227.5:c.*879del	ENSP00000425226.1:n.*879del
ENST00000511526.5:n.490del
NM_014049.4:c.985del	NP_054768.2:p.Arg329GlyfsTer13
NR_033426.1:n.1363del
XM_011512742.1:c.616del	XP_011511044.1:p.Arg206GlyfsTer13
XR_427367.1:n.1061del
XM_024453484.1:c.616del	XP_024309252.1:p.Arg206GlyfsTer13
XM_024453485.1:c.616del	XP_024309253.1:p.Arg206GlyfsTer13
XR_427367.3:n.1061del
NM_014049.5:c.985del MANE Select	NP_054768.2:p.Arg329GlyfsTer13
NR_033426.2:n.1233del