Linked Data
ClinVar Variation Id:
869209
ClinVar RCV Id:
RCV001078216
dbSNP Id:
rs2057997486
MyVariant Identifiers:
chr21:g.36259157del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34886862del , CM000683.2:g.34886862del | GRCh38 |
| NC_000021.8:g.36259159del , CM000683.1:g.36259159del | GRCh37 |
| NC_000021.7:g.35181029del | NCBI36 |
| NG_011402.2:g.1102852del , LRG_482:g.1102852del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.334del MANE Select | ENSP00000501943.1:p.Leu112CysfsTer10 | |
| ENST00000300305.7:c.334del | ENSP00000300305.3:p.Leu112CysfsTer10 | |
| ENST00000344691.8:c.253del | ENSP00000340690.4:p.Leu85CysfsTer10 | |
| ENST00000358356.9:c.253del | ENSP00000351123.5:p.Leu85CysfsTer10 | |
| ENST00000399237.6:c.298del | ENSP00000382182.2:p.Leu100CysfsTer10 | |
| ENST00000399240.5:c.253del | ENSP00000382184.1:p.Leu85CysfsTer10 | |
| ENST00000437180.5:c.334del | ENSP00000409227.1:p.Leu112CysfsTer10 | |
| ENST00000455571.5:c.295del | ENSP00000388189.1:p.Leu99CysfsTer10 | |
| ENST00000482318.5:c.59-6147del | ENSP00000477067.1:n.59-6147del | |
| NM_001001890.2:c.253del | NP_001001890.1:p.Leu85CysfsTer10 | |
| NM_001122607.1:c.253del | NP_001116079.1:p.Leu85CysfsTer10 | |
| NM_001754.4:c.334del , LRG_482t1:c.334del | NP_001745.2:p.Leu112CysfsTer10 | |
| XM_005261068.3:c.298del | XP_005261125.1:p.Leu100CysfsTer10 | |
| XM_005261069.3:c.334del | XP_005261126.1:p.Leu112CysfsTer10 | |
| XM_011529766.1:c.334del | XP_011528068.1:p.Leu112CysfsTer10 | |
| XM_011529767.1:c.295del | XP_011528069.1:p.Leu99CysfsTer10 | |
| XM_011529768.1:c.295del | XP_011528070.1:p.Leu99CysfsTer10 | |
| XM_011529770.1:c.334del | XP_011528072.1:p.Leu112CysfsTer10 | |
| XR_937576.1:n.513del | ||
| XM_005261069.4:c.334del | XP_005261126.1:p.Leu112CysfsTer10 | |
| XM_011529766.2:c.334del | XP_011528068.1:p.Leu112CysfsTer10 | |
| XM_011529767.2:c.295del | XP_011528069.1:p.Leu99CysfsTer10 | |
| XM_011529768.2:c.295del | XP_011528070.1:p.Leu99CysfsTer10 | |
| XM_011529770.2:c.334del | XP_011528072.1:p.Leu112CysfsTer10 | |
| XM_017028487.1:c.181del | XP_016883976.1:p.Leu61CysfsTer10 | |
| XR_937576.2:n.560del | ||
| NM_001001890.3:c.253del | NP_001001890.1:p.Leu85CysfsTer10 | |
| NM_001122607.2:c.253del | NP_001116079.1:p.Leu85CysfsTer10 | |
| NM_001754.5:c.334del MANE Select | NP_001745.2:p.Leu112CysfsTer10 |