Canonical Allele Identifier: CA2573136489

Gene: ACAD9

Linked Data

• ClinVar Variation Id: 1456169
• ClinVar RCV Id: RCV001951010 ; RCV003471169
• dbSNP Id: rs2107656502

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128902627del , CM000665.2:g.128902627del	GRCh38
NC_000003.11:g.128621470del , CM000665.1:g.128621470del	GRCh37
NC_000003.10:g.130104160del	NCBI36
NG_017064.1:g.28138del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.957del MANE Select	ENSP00000312618.7:p.Ile319MetfsTer3
ENST00000511325.2:n.1035del
ENST00000679399.1:c.*851del	ENSP00000505434.1:n.*851del
ENST00000679431.1:c.*829del	ENSP00000506440.1:n.*829del
ENST00000679613.1:c.957del	ENSP00000504971.1:p.Ile319MetfsTer3
ENST00000679715.1:c.588del	ENSP00000506228.1:p.Ile196MetfsTer3
ENST00000679824.1:c.*2263del	ENSP00000505516.1:n.*2263del
ENST00000679990.1:n.1192del
ENST00000680636.1:c.957del	ENSP00000504886.1:p.Ile319MetfsTer3
ENST00000680744.1:c.*310del	ENSP00000505243.1:n.*310del
ENST00000680764.1:c.*2357del	ENSP00000505126.1:n.*2357del
ENST00000681319.1:n.1035del
ENST00000681367.1:c.957del	ENSP00000505309.1:p.Ile319MetfsTer3
ENST00000681552.1:c.957del	ENSP00000505699.1:p.Ile319MetfsTer3
ENST00000681583.1:c.957del	ENSP00000506340.1:p.Ile319MetfsTer3
ENST00000681585.1:c.957del	ENSP00000506316.1:p.Ile319MetfsTer3
ENST00000681589.1:n.1171del
ENST00000681784.1:n.1035del
ENST00000681886.1:c.*150del	ENSP00000506500.1:n.*150del
ENST00000308982.11:c.957del	ENSP00000312618.7:p.Ile319MetfsTer3
ENST00000505192.5:c.*653del	ENSP00000426277.1:n.*653del
ENST00000505867.5:c.*757del	ENSP00000425346.1:n.*757del
ENST00000508971.1:c.246del	ENSP00000422683.1:p.Ile82MetfsTer3
ENST00000511227.5:c.*851del	ENSP00000425226.1:n.*851del
ENST00000511526.5:n.458del
NM_014049.4:c.957del	NP_054768.2:p.Ile319MetfsTer3
NR_033426.1:n.1335del
XM_011512742.1:c.588del	XP_011511044.1:p.Ile196MetfsTer3
XR_427367.1:n.1029del
XM_024453484.1:c.588del	XP_024309252.1:p.Ile196MetfsTer3
XM_024453485.1:c.588del	XP_024309253.1:p.Ile196MetfsTer3
XR_427367.3:n.1029del
NM_014049.5:c.957del MANE Select	NP_054768.2:p.Ile319MetfsTer3
NR_033426.2:n.1205del