Linked Data
ClinVar Variation Id:
1270876
ClinVar RCV Id:
RCV001680397
dbSNP Id:
rs56243517
gnomAD v2:
21-36253146-ATAACT-A
gnomAD v3:
21-34880849-ATAACT-A
gnomAD v4:
21-34880849-ATAACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34880853_34880857del , CM000683.2:g.34880853_34880857del | GRCh38 |
| NC_000021.8:g.36253150_36253154del , CM000683.1:g.36253150_36253154del | GRCh37 |
| NC_000021.7:g.35175020_35175024del | NCBI36 |
| NG_011402.2:g.1108858_1108862del , LRG_482:g.1108858_1108862del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.352-141_352-137del (RUNX1) MANE Select | ENSP00000501943.1:n.352-141_352-137del | |
| ENST00000300305.7:c.352-141_352-137del (RUNX1) | ENSP00000300305.3:n.352-141_352-137del | |
| ENST00000344691.8:c.271-141_271-137del (RUNX1) | ENSP00000340690.4:n.271-141_271-137del | |
| ENST00000358356.9:c.271-141_271-137del (RUNX1) | ENSP00000351123.5:n.271-141_271-137del | |
| ENST00000399237.6:c.316-141_316-137del (RUNX1) | ENSP00000382182.2:n.316-141_316-137del | |
| ENST00000399240.5:c.271-141_271-137del (RUNX1) | ENSP00000382184.1:n.271-141_271-137del | |
| ENST00000437180.5:c.352-141_352-137del (RUNX1) | ENSP00000409227.1:n.352-141_352-137del | |
| ENST00000455571.5:c.313-141_313-137del (RUNX1) | ENSP00000388189.1:n.313-141_313-137del | |
| ENST00000482318.5:c.59-141_59-137del (RUNX1) | ENSP00000477067.1:n.59-141_59-137del | |
| NM_001001890.2:c.271-141_271-137del (RUNX1) | NP_001001890.1:n.271-141_271-137del | |
| NM_001122607.1:c.271-141_271-137del (RUNX1) | NP_001116079.1:n.271-141_271-137del | |
| NM_001754.4:c.352-141_352-137del , LRG_482t1:c.352-141_352-137del (RUNX1) | NP_001745.2:n.352-141_352-137del | |
| XM_005261068.3:c.316-141_316-137del (RUNX1) | XP_005261125.1:n.316-141_316-137del | |
| XM_005261069.3:c.352-141_352-137del (RUNX1) | XP_005261126.1:n.352-141_352-137del | |
| XM_011529766.1:c.352-141_352-137del (RUNX1) | XP_011528068.1:n.352-141_352-137del | |
| XM_011529767.1:c.313-141_313-137del (RUNX1) | XP_011528069.1:n.313-141_313-137del | |
| XM_011529768.1:c.313-141_313-137del (RUNX1) | XP_011528070.1:n.313-141_313-137del | |
| XM_011529770.1:c.352-141_352-137del (RUNX1) | XP_011528072.1:n.352-141_352-137del | |
| XR_937576.1:n.531-141_531-137del (RUNX1) | ||
| XM_005261069.4:c.352-141_352-137del (RUNX1) | XP_005261126.1:n.352-141_352-137del | |
| XM_011529766.2:c.352-141_352-137del (RUNX1) | XP_011528068.1:n.352-141_352-137del | |
| XM_011529767.2:c.313-141_313-137del (RUNX1) | XP_011528069.1:n.313-141_313-137del | |
| XM_011529768.2:c.313-141_313-137del (RUNX1) | XP_011528070.1:n.313-141_313-137del | |
| XM_011529770.2:c.352-141_352-137del (RUNX1) | XP_011528072.1:n.352-141_352-137del | |
| XM_017028487.1:c.199-141_199-137del (RUNX1) | XP_016883976.1:n.199-141_199-137del | |
| XR_002958649.1:n.134_138del (RUNX1-AS1) | ||
| XR_937576.2:n.578-141_578-137del (RUNX1) | ||
| NM_001001890.3:c.271-141_271-137del (RUNX1) | NP_001001890.1:n.271-141_271-137del | |
| NM_001122607.2:c.271-141_271-137del (RUNX1) | NP_001116079.1:n.271-141_271-137del | |
| NM_001754.5:c.352-141_352-137del (RUNX1) MANE Select | NP_001745.2:n.352-141_352-137del |