Linked Data
ClinVar Variation Id:
242873
ClinVar RCV Id:
RCV000491582
dbSNP Id:
rs1114167284
gnomAD v4:
22-41528606-AAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41528608_41528609del , CM000684.2:g.41528608_41528609del | GRCh38 |
| NC_000022.10:g.41924612_41924613del , CM000684.1:g.41924612_41924613del | GRCh37 |
| NC_000022.9:g.40254558_40254559del | NCBI36 |
| NG_032143.1:g.64484_64485del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216254.9:c.2338_2339del (ACO2) MANE Select | ENSP00000216254.4:p.Gln780ValfsTer? | |
| ENST00000355209.9:c.*675_*676del (POLR3H) MANE Select | ENSP00000347345.4:n.*675_*676del | |
| ENST00000676664.1:c.2401_2402del (ACO2) | ENSP00000503709.1:n.2401_2402del | |
| ENST00000676714.1:c.*2256_*2257del (ACO2) | ENSP00000504699.1:n.*2256_*2257del | |
| ENST00000676748.1:c.2239_2240del (ACO2) | ENSP00000503371.1:p.Gln747ValfsTer? | |
| ENST00000676792.1:c.2173_2174del (ACO2) | ENSP00000503590.1:p.Gln725ValfsTer? | |
| ENST00000676822.1:n.2586_2587del (ACO2) | ||
| ENST00000676883.1:n.2357_2358del (ACO2) | ||
| ENST00000676959.1:c.*795_*796del (ACO2) | ENSP00000504377.1:n.*795_*796del | |
| ENST00000677007.1:c.*1113_*1114del (ACO2) | ENSP00000504634.1:n.*1113_*1114del | |
| ENST00000677153.1:c.2239_2240del (ACO2) | ENSP00000504453.1:p.Gln747ValfsTer? | |
| ENST00000677492.1:n.3297_3298del (ACO2) | ||
| ENST00000677516.1:c.*1737_*1738del (ACO2) | ENSP00000503370.1:n.*1737_*1738del | |
| ENST00000677532.1:c.2362_2363del (ACO2) | ENSP00000503471.1:p.Gln788ValfsTer? | |
| ENST00000677554.1:c.2146_2147del (ACO2) | ENSP00000504513.1:p.Gln716ValfsTer? | |
| ENST00000677698.1:c.2711_2712del (ACO2) | ||
| ENST00000678269.1:c.2413_2414del (ACO2) | ENSP00000504150.1:p.Gln805ValfsTer? | |
| ENST00000678394.1:n.3053_3054del (ACO2) | ||
| ENST00000678600.1:n.2859_2860del (ACO2) | ||
| ENST00000678688.1:c.*1574_*1575del (ACO2) | ENSP00000503990.1:n.*1574_*1575del | |
| ENST00000678788.1:c.2323_2324del (ACO2) | ENSP00000504684.1:p.Gln775ValfsTer? | |
| ENST00000678819.1:c.*2201_*2202del (ACO2) | ENSP00000503199.1:n.*2201_*2202del | |
| ENST00000679264.1:n.3319_3320del (ACO2) | ||
| ENST00000679284.1:n.2231_2232del (ACO2) | ||
| ENST00000679311.1:n.2585_2586del (ACO2) | ||
| ENST00000679320.1:c.*206_*207del (ACO2) | ENSP00000504780.1:n.*206_*207del | |
| ENST00000216254.8:c.2338_2339del (ACO2) | ENSP00000216254.4:p.Gln780ValfsTer? | |
| ENST00000355209.8:c.*675_*676del (POLR3H) | ENSP00000347345.4:n.*675_*676del | |
| ENST00000396504.6:c.*675_*676del (POLR3H) | ENSP00000379761.2:n.*675_*676del | |
| ENST00000396512.3:c.2413_2414del (ACO2) | ENSP00000379769.3:p.Gln805ValfsTer? | |
| NM_001018050.3:c.*675_*676del (POLR3H) | NP_001018060.1:n.*675_*676del | |
| NM_001018052.3:c.*675_*676del (POLR3H) | NP_001018062.1:n.*675_*676del | |
| NM_001098.2:c.2338_2339del (ACO2) | NP_001089.1:p.Gln780ValfsTer? | |
| NM_001282884.1:c.*675_*676del (POLR3H) | NP_001269813.1:n.*675_*676del | |
| NM_001282885.1:c.*675_*676del (POLR3H) | NP_001269814.1:n.*675_*676del | |
| NM_138338.4:c.*675_*676del (POLR3H) | NP_612211.1:n.*675_*676del | |
| XM_017028812.1:c.2239_2240del (ACO2) | XP_016884301.1:p.Gln747ValfsTer? | |
| XM_024452250.1:c.2338_2339del (ACO2) | XP_024308018.1:p.Gln780ValfsTer? | |
| NM_001018050.4:c.*675_*676del (POLR3H) MANE Select | NP_001018060.1:n.*675_*676del | |
| NM_001098.3:c.2338_2339del (ACO2) MANE Select | NP_001089.1:p.Gln780ValfsTer? | |
| NM_001018052.4:c.*675_*676del (POLR3H) | NP_001018062.1:n.*675_*676del | |
| NM_001282884.2:c.*675_*676del (POLR3H) | NP_001269813.1:n.*675_*676del | |
| NM_001282885.2:c.*675_*676del (POLR3H) | NP_001269814.1:n.*675_*676del | |
| NM_138338.5:c.*675_*676del (POLR3H) | NP_612211.1:n.*675_*676del |