Canonical Allele Identifier: CA2406287917
Community Standard Title: NM_001098.3(ACO2):c.1139-464_1139-462delinsCAG
Gene: ACO2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41522366_41522368delinsCAG , CM000684.2:g.41522366_41522368delinsCAG GRCh38
NC_000022.10:g.41918370_41918372delinsCAG , CM000684.1:g.41918370_41918372delinsCAG GRCh37
NC_000022.9:g.40248316_40248318delinsCAG NCBI36
NG_032143.1:g.58242_58244delinsCAG

Transcript Alleles

HGVS Amino-acid Change
NM_001098.3:c.1139-464_1139-462delinsCAG MANE Select NP_001089.1:n.1139-464_1139-462delinsCAG
ENST00000216254.9:c.1139-464_1139-462delinsCAG MANE Select ENSP00000216254.4:n.1139-464_1139-462delinsCAG
NM_001098.2:c.1139-464_1139-462delinsCAG NP_001089.1:n.1139-464_1139-462delinsCAG
ENST00000216254.8:c.1139-464_1139-462delinsCAG ENSP00000216254.4:n.1139-464_1139-462delinsCAG
ENST00000396512.3:c.1214-464_1214-462delinsCAG ENSP00000379769.3:n.1214-464_1214-462delinsCAG
ENST00000676664.1:c.1202-464_1202-462delinsCAG ENSP00000503709.1:n.1202-464_1202-462delinsCAG
ENST00000676714.1:c.*1057-464_*1057-462delinsCAG ENSP00000504699.1:n.*1057-464_*1057-462delinsCAG
ENST00000676748.1:c.1040-464_1040-462delinsCAG ENSP00000503371.1:n.1040-464_1040-462delinsCAG
ENST00000676792.1:c.974-464_974-462delinsCAG ENSP00000503590.1:n.974-464_974-462delinsCAG
ENST00000676822.1:n.1387-464_1387-462delinsCAG
ENST00000676959.1:c.1139-464_1139-462delinsCAG ENSP00000504377.1:n.1139-464_1139-462delinsCAG
ENST00000677007.1:c.*72-839_*72-837delinsCAG ENSP00000504634.1:n.*72-839_*72-837delinsCAG
ENST00000677153.1:c.1040-464_1040-462delinsCAG ENSP00000504453.1:n.1040-464_1040-462delinsCAG
ENST00000677492.1:n.2098-464_2098-462delinsCAG
ENST00000677516.1:c.*538-464_*538-462delinsCAG ENSP00000503370.1:n.*538-464_*538-462delinsCAG
ENST00000677532.1:c.1163-464_1163-462delinsCAG ENSP00000503471.1:n.1163-464_1163-462delinsCAG
ENST00000677554.1:c.1139-464_1139-462delinsCAG ENSP00000504513.1:n.1139-464_1139-462delinsCAG
ENST00000677698.1:c.1512-464_1512-462delinsCAG
ENST00000678269.1:c.1214-464_1214-462delinsCAG ENSP00000504150.1:n.1214-464_1214-462delinsCAG
ENST00000678394.1:n.1854-464_1854-462delinsCAG
ENST00000678600.1:n.1180-464_1180-462delinsCAG
ENST00000678688.1:c.*375-464_*375-462delinsCAG ENSP00000503990.1:n.*375-464_*375-462delinsCAG
ENST00000678788.1:c.1124-464_1124-462delinsCAG ENSP00000504684.1:n.1124-464_1124-462delinsCAG
ENST00000678819.1:c.*1002-464_*1002-462delinsCAG ENSP00000503199.1:n.*1002-464_*1002-462delinsCAG
ENST00000679264.1:n.2120-464_2120-462delinsCAG
ENST00000679284.1:n.351_353delinsCAG
ENST00000679311.1:n.1169-464_1169-462delinsCAG
ENST00000679320.1:c.1139-464_1139-462delinsCAG ENSP00000504780.1:n.1139-464_1139-462delinsCAG
XM_017028812.1:c.1040-464_1040-462delinsCAG XP_016884301.1:n.1040-464_1040-462delinsCAG
XM_024452250.1:c.1139-464_1139-462delinsCAG XP_024308018.1:n.1139-464_1139-462delinsCAG