Canonical Allele Identifier: CA546183143

Gene: CFAP92 ACAD9

Linked Data

• dbSNP Id: rs1297221872
• gnomAD v2: 3-128628798-AGGGAGGGACCATGT-A
• gnomAD v3: 3-128909955-AGGGAGGGACCATGT-A
• gnomAD v4: 3-128909955-AGGGAGGGACCATGT-A
• MyVariant Identifiers: chr3:g.128628799_128628812del (hg19) ; chr3:g.128909956_128909969del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128909959_128909972del , CM000665.2:g.128909959_128909972del	GRCh38
NC_000003.11:g.128628802_128628815del , CM000665.1:g.128628802_128628815del	GRCh37
NC_000003.10:g.130111492_130111505del	NCBI36
NG_017064.1:g.35470_35483del

Transcript Alleles

HGVS	Amino-acid change
ENST00000645291.3:c.*330_*343del (CFAP92) MANE Select	ENSP00000496592.2:n.*330_*343del
ENST00000308982.12:c.1564-62_1564-49del (ACAD9) MANE Select	ENSP00000312618.7:n.1564-62_1564-49del
ENST00000511325.2:n.2179_2192del (ACAD9)
ENST00000645291.2:c.*330_*343del (CFAP92)	ENSP00000496592.2:n.*330_*343del
ENST00000679399.1:c.*1735-62_*1735-49del (ACAD9)	ENSP00000505434.1:n.*1735-62_*1735-49del
ENST00000679431.1:c.*1440-62_*1440-49del (ACAD9)	ENSP00000506440.1:n.*1440-62_*1440-49del
ENST00000679613.1:c.1564-62_1564-49del (ACAD9)	ENSP00000504971.1:n.1564-62_1564-49del
ENST00000679715.1:c.1195-62_1195-49del (ACAD9)	ENSP00000506228.1:n.1195-62_1195-49del
ENST00000679824.1:c.*2870-62_*2870-49del (ACAD9)	ENSP00000505516.1:n.*2870-62_*2870-49del
ENST00000679990.1:n.2336_2349del (ACAD9)
ENST00000680636.1:c.1596_1609del (ACAD9)	ENSP00000504886.1:p.Gly533AspfsTer5
ENST00000680638.1:n.1854_1867del (ACAD9)
ENST00000680744.1:c.*917-62_*917-49del (ACAD9)	ENSP00000505243.1:n.*917-62_*917-49del
ENST00000680764.1:c.*2968-62_*2968-49del (ACAD9)	ENSP00000505126.1:n.*2968-62_*2968-49del
ENST00000681319.1:n.2350-62_2350-49del (ACAD9)
ENST00000681367.1:c.1564-62_1564-49del (ACAD9)	ENSP00000505309.1:n.1564-62_1564-49del
ENST00000681552.1:c.1150-2548_1150-2535del (ACAD9)	ENSP00000505699.1:n.1150-2548_1150-2535del
ENST00000681583.1:c.1564-62_1564-49del (ACAD9)	ENSP00000506340.1:n.1564-62_1564-49del
ENST00000681585.1:c.*183-62_*183-49del (ACAD9)	ENSP00000506316.1:n.*183-62_*183-49del
ENST00000681784.1:n.2179_2192del (ACAD9)
ENST00000681886.1:c.*1294_*1307del (ACAD9)	ENSP00000506500.1:n.*1294_*1307del
ENST00000308982.11:c.1564-62_1564-49del (ACAD9)	ENSP00000312618.7:n.1564-62_1564-49del
ENST00000505867.5:c.*1364-62_*1364-49del (ACAD9)	ENSP00000425346.1:n.*1364-62_*1364-49del
ENST00000508239.1:c.*330_*343del	ENSP00000424951.1:n.*330_*343del
ENST00000508971.1:c.853-62_853-49del (ACAD9)	ENSP00000422683.1:n.853-62_853-49del
ENST00000511227.5:c.*1458-62_*1458-49del (ACAD9)	ENSP00000425226.1:n.*1458-62_*1458-49del
ENST00000511325.1:n.1082_1095del (ACAD9)
ENST00000511438.5:c.*330_*343del (CFAP92)	ENSP00000426217.1:n.*330_*343del
ENST00000511526.5:n.1097-62_1097-49del (ACAD9)
NM_014049.4:c.1564-62_1564-49del (ACAD9)	NP_054768.2:n.1564-62_1564-49del
NR_033426.1:n.1942-62_1942-49del (ACAD9)
XM_011512742.1:c.1195-62_1195-49del (ACAD9)	XP_011511044.1:n.1195-62_1195-49del
NM_001348520.1:c.*330_*343del (CFAP92)	NP_001335449.1:n.*330_*343del
NM_001348521.1:c.*330_*343del (CFAP92)	NP_001335450.1:n.*330_*343del
XM_024453484.1:c.1195-62_1195-49del (ACAD9)	XP_024309252.1:n.1195-62_1195-49del
XM_024453485.1:c.1195-62_1195-49del (ACAD9)	XP_024309253.1:n.1195-62_1195-49del
XR_427367.3:n.1640-62_1640-49del (ACAD9)
NM_014049.5:c.1564-62_1564-49del (ACAD9) MANE Select	NP_054768.2:n.1564-62_1564-49del
NM_001348520.2:c.*330_*343del (CFAP92)	NP_001335449.1:n.*330_*343del
NM_001348521.2:c.*330_*343del (CFAP92)	NP_001335450.1:n.*330_*343del
NM_001394090.1:c.*330_*343del (CFAP92) MANE Select	NP_001381019.1:n.*330_*343del
NR_033426.2:n.1812-62_1812-49del (ACAD9)