Linked Data
ClinVar Variation Id:
231528
ClinVar RCV Id:
RCV003328286
dbSNP Id:
rs876659208
gnomAD v4:
16-68815665-AAG-A
COSMIC:
COSM4613899
ERepo:
CA10580116/MONDO:0007648/007
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68815670_68815671del , CM000678.2:g.68815670_68815671del | GRCh38 |
| NC_000016.9:g.68849573_68849574del , CM000678.1:g.68849573_68849574del | GRCh37 |
| NC_000016.8:g.67407074_67407075del | NCBI36 |
| NG_008021.1:g.83379_83380del , LRG_301:g.83379_83380del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261769.10:c.1476_1477del MANE Select | ENSP00000261769.4:p.Arg492SerfsTer? | |
| ENST00000261769.9:c.1476_1477del | ENSP00000261769.4:p.Arg492SerfsTer? | |
| ENST00000422392.6:c.1293_1294del | ENSP00000414946.2:p.Arg431SerfsTer? | |
| ENST00000562836.5:n.1547_1548del | ||
| ENST00000566510.5:c.*142_*143del | ENSP00000458139.1:n.*142_*143del | |
| ENST00000566612.5:c.1476_1477del | ENSP00000454782.1:p.Arg492SerfsTer? | |
| ENST00000611625.4:c.1539_1540del | ENSP00000481063.1:p.Arg513SerfsTer? | |
| ENST00000612417.4:c.1476_1477del | ENSP00000478360.1:p.Arg492SerfsTer? | |
| ENST00000621016.4:c.1476_1477del | ENSP00000480664.1:p.Arg492SerfsTer? | |
| NM_004360.3:c.1476_1477del , LRG_301t1:c.1476_1477del | NP_004351.1:p.Arg492SerfsTer? | |
| XM_011523488.1:c.741_742del | XP_011521790.1:p.Arg247SerfsTer? | |
| XM_011523489.1:c.741_742del | XP_011521791.1:p.Arg247SerfsTer? | |
| NM_001317184.1:c.1293_1294del | NP_001304113.1:p.Arg431SerfsTer? | |
| NM_001317185.1:c.-73_-72del | NP_001304114.1:n.-73_-72del | |
| NM_001317186.1:c.-344_-343del | NP_001304115.1:n.-344_-343del | |
| NM_004360.4:c.1476_1477del | NP_004351.1:p.Arg492SerfsTer? | |
| NM_004360.5:c.1476_1477del MANE Select | NP_004351.1:p.Arg492SerfsTer? | |
| NM_001317184.2:c.1293_1294del | NP_001304113.1:p.Arg431SerfsTer? | |
| NM_001317185.2:c.-73_-72del | NP_001304114.1:n.-73_-72del | |
| NM_001317186.2:c.-344_-343del | NP_001304115.1:n.-344_-343del |