Canonical Allele Identifier: CA2586972945

Gene: CFAP92 ACAD9

Linked Data

• ClinVar Variation Id: 2679725
• ClinVar RCV Id: RCV003466630

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128910054del , CM000665.2:g.128910054del	GRCh38
NC_000003.11:g.128628897del , CM000665.1:g.128628897del	GRCh37
NC_000003.10:g.130111587del	NCBI36
NG_017064.1:g.35565del

Transcript Alleles

HGVS	Amino-acid change
ENST00000645291.3:c.*247del (CFAP92) MANE Select	ENSP00000496592.2:n.*247del
ENST00000308982.12:c.1597del (ACAD9) MANE Select	ENSP00000312618.7:p.Val533TrpfsTer11
ENST00000511325.2:n.2274del (ACAD9)
ENST00000645291.2:c.*247del (CFAP92)	ENSP00000496592.2:n.*247del
ENST00000679399.1:c.*1768del (ACAD9)	ENSP00000505434.1:n.*1768del
ENST00000679431.1:c.*1473del (ACAD9)	ENSP00000506440.1:n.*1473del
ENST00000679613.1:c.1597del (ACAD9)	ENSP00000504971.1:p.Val533TrpfsTer11
ENST00000679715.1:c.1228del (ACAD9)	ENSP00000506228.1:p.Val410TrpfsTer11
ENST00000679824.1:c.*2903del (ACAD9)	ENSP00000505516.1:n.*2903del
ENST00000679990.1:n.2431del (ACAD9)
ENST00000680636.1:c.1691del (ACAD9)	ENSP00000504886.1:p.Gly564ValfsTer?
ENST00000680638.1:n.1949del (ACAD9)
ENST00000680744.1:c.*950del (ACAD9)	ENSP00000505243.1:n.*950del
ENST00000680764.1:c.*3001del (ACAD9)	ENSP00000505126.1:n.*3001del
ENST00000681319.1:n.2383del (ACAD9)
ENST00000681367.1:c.1597del (ACAD9)	ENSP00000505309.1:p.Val533TrpfsTer11
ENST00000681552.1:c.1150-2453del (ACAD9)	ENSP00000505699.1:n.1150-2453del
ENST00000681583.1:c.1597del (ACAD9)	ENSP00000506340.1:p.Val533TrpfsTer11
ENST00000681585.1:c.*216del (ACAD9)	ENSP00000506316.1:n.*216del
ENST00000681784.1:n.2274del (ACAD9)
ENST00000681886.1:c.*1389del (ACAD9)	ENSP00000506500.1:n.*1389del
ENST00000308982.11:c.1597del (ACAD9)	ENSP00000312618.7:p.Val533TrpfsTer11
ENST00000505867.5:c.*1397del (ACAD9)	ENSP00000425346.1:n.*1397del
ENST00000508239.1:c.*247del	ENSP00000424951.1:n.*247del
ENST00000508971.1:c.886del (ACAD9)	ENSP00000422683.1:p.Val296TrpfsTer11
ENST00000511227.5:c.*1491del (ACAD9)	ENSP00000425226.1:n.*1491del
ENST00000511325.1:n.1177del (ACAD9)
ENST00000511438.5:c.*247del (CFAP92)	ENSP00000426217.1:n.*247del
ENST00000511526.5:n.1130del (ACAD9)
ENST00000620948.3:c.26del (ACAD9)
NM_014049.4:c.1597del (ACAD9)	NP_054768.2:p.Val533TrpfsTer11
NR_033426.1:n.1975del (ACAD9)
XM_011512742.1:c.1228del (ACAD9)	XP_011511044.1:p.Val410TrpfsTer11
NM_001348520.1:c.*247del (CFAP92)	NP_001335449.1:n.*247del
NM_001348521.1:c.*247del (CFAP92)	NP_001335450.1:n.*247del
XM_024453484.1:c.1228del (ACAD9)	XP_024309252.1:p.Val410TrpfsTer11
XM_024453485.1:c.1228del (ACAD9)	XP_024309253.1:p.Val410TrpfsTer11
XR_427367.3:n.1673del (ACAD9)
NM_014049.5:c.1597del (ACAD9) MANE Select	NP_054768.2:p.Val533TrpfsTer11
NM_001348520.2:c.*247del (CFAP92)	NP_001335449.1:n.*247del
NM_001348521.2:c.*247del (CFAP92)	NP_001335450.1:n.*247del
NM_001394090.1:c.*247del (CFAP92) MANE Select	NP_001381019.1:n.*247del
NR_033426.2:n.1845del (ACAD9)