Linked Data
ClinVar Variation Id:
29729
ClinVar RCV Id:
RCV000022581
dbSNP Id:
rs1060499526
PubMed:
PMID:20890276
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13753526_13753527del , CM000674.2:g.13753526_13753527del | GRCh38 |
| NC_000012.11:g.13906460_13906461del , CM000674.1:g.13906460_13906461del | GRCh37 |
| NC_000012.10:g.13797727_13797728del | NCBI36 |
| NG_031854.1:g.231565_231566del | |
| NG_031854.2:g.233489_233490del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000609686.4:c.803_804del MANE Select | ENSP00000477455.1:p.Thr268SerfsTer15 | |
| ENST00000630791.2:c.803_804del | ENSP00000486677.2:p.Thr268SerfsTer15 | |
| ENST00000609686.3:c.803_804del | ENSP00000477455.1:p.Thr268SerfsTer15 | |
| NM_000834.3:c.803_804del | NP_000825.2:p.Thr268SerfsTer15 | |
| XM_011520628.1:c.803_804del | XP_011518930.1:p.Thr268SerfsTer15 | |
| XM_011520629.1:c.803_804del | XP_011518931.1:p.Thr268SerfsTer15 | |
| XM_011520630.1:c.803_804del | XP_011518932.1:p.Thr268SerfsTer15 | |
| NM_000834.4:c.803_804del | NP_000825.2:p.Thr268SerfsTer15 | |
| XM_011520628.2:c.803_804del | XP_011518930.1:p.Thr268SerfsTer15 | |
| XM_011520629.2:c.803_804del | XP_011518931.1:p.Thr268SerfsTer15 | |
| XM_017019219.2:c.803_804del | XP_016874708.1:p.Thr268SerfsTer15 | |
| NM_000834.5:c.803_804del MANE Select | NP_000825.2:p.Thr268SerfsTer15 |