Canonical Allele Identifier: CA2577891636

Gene: CFAP92 ACAD9

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128912547_128912557dup , CM000665.2:g.128912547_128912557dup	GRCh38
NC_000003.11:g.128631390_128631400dup , CM000665.1:g.128631390_128631400dup	GRCh37
NC_000003.10:g.130114080_130114090dup	NCBI36
NG_017064.1:g.38058_38068dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001394090.1:c.3281-2223_3281-2213dup (CFAP92) MANE Select	NP_001381019.1:n.3281-2223_3281-2213dup
NM_014049.5:c.1806_1816dup (ACAD9) MANE Select	NP_054768.2:p.Leu606ProfsTer?
ENST00000308982.12:c.1806_1816dup (ACAD9) MANE Select	ENSP00000312618.7:p.Leu606ProfsTer?
ENST00000645291.3:c.3281-2223_3281-2213dup (CFAP92) MANE Select	ENSP00000496592.2:n.3281-2223_3281-2213dup
NM_001348520.1:c.2408-2223_2408-2213dup (CFAP92)	NP_001335449.1:n.2408-2223_2408-2213dup
NM_001348520.2:c.2408-2223_2408-2213dup (CFAP92)	NP_001335449.1:n.2408-2223_2408-2213dup
NM_001348521.1:c.2312-2223_2312-2213dup (CFAP92)	NP_001335450.1:n.2312-2223_2312-2213dup
NM_001348521.2:c.2312-2223_2312-2213dup (CFAP92)	NP_001335450.1:n.2312-2223_2312-2213dup
NM_014049.4:c.1806_1816dup (ACAD9)	NP_054768.2:p.Leu606ProfsTer?
NR_033426.1:n.2184_2194dup (ACAD9)
NR_033426.2:n.2054_2064dup (ACAD9)
ENST00000308982.11:c.1806_1816dup (ACAD9)	ENSP00000312618.7:p.Leu606ProfsTer?
ENST00000505867.5:c.*1606_*1616dup (ACAD9)	ENSP00000425346.1:n.*1606_*1616dup
ENST00000508239.1:c.1685-2223_1685-2213dup	ENSP00000424951.1:n.1685-2223_1685-2213dup
ENST00000508971.1:c.1095_1105dup (ACAD9)	ENSP00000422683.1:p.Leu369ProfsTer?
ENST00000511227.5:c.*1700_*1710dup (ACAD9)	ENSP00000425226.1:n.*1700_*1710dup
ENST00000511325.1:n.1386_1396dup (ACAD9)
ENST00000511325.2:n.2483_2493dup (ACAD9)
ENST00000511438.5:c.1169-2223_1169-2213dup (CFAP92)	ENSP00000426217.1:n.1169-2223_1169-2213dup
ENST00000511526.5:n.1339_1349dup (ACAD9)
ENST00000620948.3:c.233_243dup (ACAD9)	ENSP00000478191.1:p.Leu82ProfsTer5
ENST00000637488.2:c.861-2223_861-2213dup (CFAP92)
ENST00000645291.2:c.3281-2223_3281-2213dup (CFAP92)	ENSP00000496592.2:n.3281-2223_3281-2213dup
ENST00000679399.1:c.*1977_*1987dup (ACAD9)	ENSP00000505434.1:n.*1977_*1987dup
ENST00000679431.1:c.*1682_*1692dup (ACAD9)	ENSP00000506440.1:n.*1682_*1692dup
ENST00000679613.1:c.*173_*183dup (ACAD9)	ENSP00000504971.1:n.*173_*183dup
ENST00000679715.1:c.1437_1447dup (ACAD9)	ENSP00000506228.1:p.Leu483ProfsTer?
ENST00000679824.1:c.*3112_*3122dup (ACAD9)	ENSP00000505516.1:n.*3112_*3122dup
ENST00000679990.1:n.2640_2650dup (ACAD9)
ENST00000680636.1:c.*19_*29dup (ACAD9)	ENSP00000504886.1:n.*19_*29dup
ENST00000680638.1:n.3851_3861dup (ACAD9)
ENST00000680744.1:c.*1159_*1169dup (ACAD9)	ENSP00000505243.1:n.*1159_*1169dup
ENST00000680764.1:c.*3210_*3220dup (ACAD9)	ENSP00000505126.1:n.*3210_*3220dup
ENST00000681319.1:n.2592_2602dup (ACAD9)
ENST00000681367.1:c.*23_*33dup (ACAD9)	ENSP00000505309.1:n.*23_*33dup
ENST00000681552.1:c.*23_*33dup (ACAD9)	ENSP00000505699.1:n.*23_*33dup
ENST00000681583.1:c.1806_1816dup (ACAD9)	ENSP00000506340.1:p.Leu606ProfsTer?
ENST00000681585.1:c.*425_*435dup (ACAD9)	ENSP00000506316.1:n.*425_*435dup
ENST00000681784.1:n.3074_3084dup (ACAD9)
ENST00000681886.1:c.*1598_*1608dup (ACAD9)	ENSP00000506500.1:n.*1598_*1608dup
XM_011512742.1:c.1437_1447dup (ACAD9)	XP_011511044.1:p.Leu483ProfsTer?
XM_011513047.1:c.3398-2223_3398-2213dup (CFAP92)	XP_011511349.1:n.3398-2223_3398-2213dup
XM_011513048.1:c.3267-2223_3267-2213dup (CFAP92)	XP_011511350.1:n.3267-2223_3267-2213dup
XM_011513049.1:c.3267-2227_3267-2217dup (CFAP92)	XP_011511351.1:n.3267-2227_3267-2217dup
XM_011513050.1:c.3323-2223_3323-2213dup (CFAP92)	XP_011511352.1:n.3323-2223_3323-2213dup
XM_011513050.2:c.3377-2223_3377-2213dup (CFAP92)	XP_011511352.2:n.3377-2223_3377-2213dup
XM_017006939.2:c.*2399_*2409dup (CFAP92)	XP_016862428.1:n.*2399_*2409dup
XM_017006940.2:c.*2399_*2409dup (CFAP92)	XP_016862429.1:n.*2399_*2409dup
XM_017006941.2:c.*2399_*2409dup (CFAP92)	XP_016862430.1:n.*2399_*2409dup
XM_017006942.2:c.*2399_*2409dup (CFAP92)	XP_016862431.1:n.*2399_*2409dup
XM_017006944.2:c.*2399_*2409dup (CFAP92)	XP_016862433.1:n.*2399_*2409dup
XM_017006945.1:c.3281-2223_3281-2213dup (CFAP92)	XP_016862434.1:n.3281-2223_3281-2213dup
XM_017006946.2:c.*2399_*2409dup (CFAP92)	XP_016862435.1:n.*2399_*2409dup
XM_017006947.2:c.5534_5544dup (CFAP92)	XP_016862436.1:n.5534_5544dup
XM_017006948.2:c.*2399_*2409dup (CFAP92)	XP_016862437.1:n.*2399_*2409dup
XM_017006950.2:c.*2399_*2409dup (CFAP92)	XP_016862439.1:n.*2399_*2409dup
XM_017006951.2:c.*2399_*2409dup (CFAP92)	XP_016862440.1:n.*2399_*2409dup
XM_017006952.2:c.*2399_*2409dup (CFAP92)	XP_016862441.1:n.*2399_*2409dup
XM_017006953.2:c.*2399_*2409dup (CFAP92)	XP_016862442.1:n.*2399_*2409dup
XM_017006954.1:c.1919-2223_1919-2213dup (CFAP92)	XP_016862443.1:n.1919-2223_1919-2213dup
XM_024453484.1:c.1437_1447dup (ACAD9)	XP_024309252.1:p.Leu483ProfsTer?
XM_024453485.1:c.1437_1447dup (ACAD9)	XP_024309253.1:p.Leu483ProfsTer?
XM_024453688.1:c.*2399_*2409dup (CFAP92)	XP_024309456.1:n.*2399_*2409dup
XM_024453689.1:c.*2399_*2409dup (CFAP92)	XP_024309457.1:n.*2399_*2409dup
XR_427367.3:n.1882_1892dup (ACAD9)