Linked Data
ClinVar Variation Id:
41178
ClinVar RCV Id:
RCV000034077
dbSNP Id:
rs267606551
PubMed:
PMID:22720333
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67489391del , CM000673.2:g.67489391del | GRCh38 |
| NC_000011.9:g.67256862del , CM000673.1:g.67256862del | GRCh37 |
| NC_000011.8:g.67013438del | NCBI36 |
| NG_008969.1:g.11358del , LRG_460:g.11358del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525341.2:c.381del | ||
| ENST00000528641.7:c.280-647del | ENSP00000434982.3:n.280-647del | |
| ENST00000529797.2:n.334del | ||
| ENST00000682324.1:c.404del | ENSP00000508017.1:p.His135LeufsTer21 | |
| ENST00000682659.1:c.100-647del | ENSP00000507351.1:n.100-647del | |
| ENST00000682699.1:c.404del | ENSP00000507935.1:p.His135LeufsTer21 | |
| ENST00000683237.1:c.404del | ENSP00000507343.1:p.His135LeufsTer21 | |
| ENST00000683856.1:c.227del | ENSP00000507979.1:p.His76LeufsTer21 | |
| ENST00000684006.1:c.404del | ENSP00000507269.1:p.His135LeufsTer21 | |
| ENST00000684657.1:c.224del | ENSP00000507961.1:p.His75LeufsTer21 | |
| ENST00000279146.8:c.404del MANE Select | ENSP00000279146.3:p.His135LeufsTer21 | |
| ENST00000279146.7:c.404del | ENSP00000279146.3:p.His135LeufsTer21 | |
| ENST00000525341.1:c.56del | ENSP00000476993.1:p.His19LeufsTer21 | |
| ENST00000528641.6:c.280-647del | ENSP00000434982.2:n.280-647del | |
| ENST00000529797.1:n.514del | ||
| NM_001302959.1:c.227del | NP_001289888.1:p.His76LeufsTer21 | |
| NM_001302960.1:c.404del | NP_001289889.1:p.His135LeufsTer21 | |
| NM_003977.3:c.404del | NP_003968.3:p.His135LeufsTer21 | |
| XM_024448761.1:c.404del | XP_024304529.1:p.His135LeufsTer21 | |
| NM_003977.4:c.404del MANE Select | NP_003968.3:p.His135LeufsTer21 | |
| NM_001302960.2:c.404del | NP_001289889.1:p.His135LeufsTer21 | |
| NM_001302959.2:c.227del | NP_001289888.1:p.His76LeufsTer21 |