Linked Data
ClinVar Variation Id:
41172
ClinVar RCV Id:
RCV000034071
dbSNP Id:
rs267606545
PubMed:
PMID:22720333
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67489273_67489274del , CM000673.2:g.67489273_67489274del | GRCh38 |
| NC_000011.9:g.67256744_67256745del , CM000673.1:g.67256744_67256745del | GRCh37 |
| NC_000011.8:g.67013320_67013321del | NCBI36 |
| NG_008969.1:g.11240_11241del , LRG_460:g.11240_11241del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525341.2:c.263_264del | ||
| ENST00000528641.7:c.280-765_280-764del | ENSP00000434982.3:n.280-765_280-764del | |
| ENST00000529797.2:n.216_217del | ||
| ENST00000682324.1:c.286_287del | ENSP00000508017.1:p.Val96ProfsTer? | |
| ENST00000682659.1:c.100-765_100-764del | ENSP00000507351.1:n.100-765_100-764del | |
| ENST00000682699.1:c.286_287del | ENSP00000507935.1:p.Val96ProfsTer? | |
| ENST00000683237.1:c.286_287del | ENSP00000507343.1:p.Val96ProfsTer? | |
| ENST00000683856.1:c.109_110del | ENSP00000507979.1:p.Val37ProfsTer? | |
| ENST00000684006.1:c.286_287del | ENSP00000507269.1:p.Val96ProfsTer? | |
| ENST00000684657.1:c.106_107del | ENSP00000507961.1:p.Val36ProfsTer? | |
| ENST00000279146.8:c.286_287del MANE Select | ENSP00000279146.3:p.Val96ProfsTer? | |
| ENST00000279146.7:c.286_287del | ENSP00000279146.3:p.Val96ProfsTer? | |
| ENST00000528641.6:c.280-765_280-764del | ENSP00000434982.2:n.280-765_280-764del | |
| ENST00000529797.1:n.396_397del | ||
| NM_001302959.1:c.109_110del | NP_001289888.1:p.Val37ProfsTer? | |
| NM_001302960.1:c.286_287del | NP_001289889.1:p.Val96ProfsTer? | |
| NM_003977.3:c.286_287del | NP_003968.3:p.Val96ProfsTer? | |
| XM_024448761.1:c.286_287del | XP_024304529.1:p.Val96ProfsTer? | |
| NM_003977.4:c.286_287del MANE Select | NP_003968.3:p.Val96ProfsTer? | |
| NM_001302960.2:c.286_287del | NP_001289889.1:p.Val96ProfsTer? | |
| NM_001302959.2:c.109_110del | NP_001289888.1:p.Val37ProfsTer? |