Canonical Allele Identifier: CA2656950810

Gene: ACO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41507889_41507894dup , CM000684.2:g.41507889_41507894dup	GRCh38
NC_000022.10:g.41903893_41903898dup , CM000684.1:g.41903893_41903898dup	GRCh37
NC_000022.9:g.40233839_40233844dup	NCBI36
NG_032143.1:g.43765_43770dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001098.3:c.272_277dup MANE Select	NP_001089.1:p.Arg92_Pro93insLeuArg
ENST00000216254.9:c.272_277dup MANE Select	ENSP00000216254.4:p.Arg92_Pro93insLeuArg
NM_001098.2:c.272_277dup	NP_001089.1:p.Arg92_Pro93insLeuArg
ENST00000216254.8:c.272_277dup	ENSP00000216254.4:p.Arg92_Pro93insLeuArg
ENST00000396512.3:c.272_277dup	ENSP00000379769.3:p.Arg92_Pro93insLeuArg
ENST00000466237.2:c.272_277dup	ENSP00000504719.1:p.Arg92_Pro93insLeuArg
ENST00000471094.1:n.448_453dup
ENST00000482208.1:n.52_57dup
ENST00000676664.1:c.218_223dup	ENSP00000503709.1:p.Arg74_Pro75insLeuArg
ENST00000676714.1:c.*190_*195dup	ENSP00000504699.1:n.*190_*195dup
ENST00000676748.1:c.173_178dup	ENSP00000503371.1:p.Arg59_Pro60insLeuArg
ENST00000676792.1:c.107_112dup	ENSP00000503590.1:p.Arg37_Pro38insLeuArg
ENST00000676822.1:n.520_525dup
ENST00000676959.1:c.272_277dup	ENSP00000504377.1:p.Arg92_Pro93insLeuArg
ENST00000677007.1:c.272_277dup	ENSP00000504634.1:p.Arg92_Pro93insLeuArg
ENST00000677153.1:c.173_178dup	ENSP00000504453.1:p.Arg59_Pro60insLeuArg
ENST00000677427.1:n.302_307dup
ENST00000677516.1:c.272_277dup	ENSP00000503370.1:p.Arg92_Pro93insLeuArg
ENST00000677532.1:c.296_301dup	ENSP00000503471.1:p.Arg100_Pro101insLeuArg
ENST00000677554.1:c.272_277dup	ENSP00000504513.1:p.Arg92_Pro93insLeuArg
ENST00000677698.1:c.645_650dup
ENST00000678269.1:c.272_277dup	ENSP00000504150.1:p.Arg92_Pro93insLeuArg
ENST00000678394.1:n.449_454dup
ENST00000678454.1:n.302_307dup
ENST00000678600.1:n.313_318dup
ENST00000678688.1:c.272_277dup	ENSP00000503990.1:p.Arg92_Pro93insLeuArg
ENST00000678788.1:c.272_277dup	ENSP00000504684.1:p.Arg92_Pro93insLeuArg
ENST00000678819.1:c.*135_*140dup	ENSP00000503199.1:n.*135_*140dup
ENST00000679264.1:n.301_306dup
ENST00000679311.1:n.302_307dup
ENST00000679320.1:c.272_277dup	ENSP00000504780.1:p.Arg92_Pro93insLeuArg
XM_017028812.1:c.173_178dup	XP_016884301.1:p.Arg59_Pro60insLeuArg
XM_024452250.1:c.272_277dup	XP_024308018.1:p.Arg92_Pro93insLeuArg