Linked Data
ClinVar Variation Id:
371382
ClinVar RCV Id:
RCV000411857
dbSNP Id:
rs1057517229
gnomAD v4:
15-90749926-TTGAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90749930_90749933del , CM000677.2:g.90749930_90749933del | GRCh38 |
| NC_000015.9:g.91293160_91293163del , CM000677.1:g.91293160_91293163del | GRCh37 |
| NC_000015.8:g.89094164_89094167del | NCBI36 |
| NG_007272.1:g.37559_37562del , LRG_20:g.37559_37562del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355112.8:c.662_665del MANE Select | ENSP00000347232.3:p.Thr221ArgfsTer10 | |
| ENST00000648453.1:c.662_665del | ENSP00000497646.1:p.Thr221ArgfsTer10 | |
| ENST00000680772.1:c.662_665del | ENSP00000506117.1:p.Thr221ArgfsTer10 | |
| ENST00000681142.1:c.662_665del | ENSP00000506682.1:p.Thr221ArgfsTer10 | |
| ENST00000355112.7:c.662_665del | ENSP00000347232.3:p.Thr221ArgfsTer10 | |
| ENST00000559282.1:n.836_839del | ||
| ENST00000559724.5:c.662_665del | ENSP00000453359.1:p.Thr221ArgfsTer10 | |
| ENST00000560509.5:c.662_665del | ENSP00000454158.1:p.Thr221ArgfsTer10 | |
| NM_000057.3:c.662_665del | NP_000048.1:p.Thr221ArgfsTer10 | |
| NM_001287246.1:c.662_665del | NP_001274175.1:p.Thr221ArgfsTer10 | |
| NM_001287247.1:c.662_665del | NP_001274176.1:p.Thr221ArgfsTer10 | |
| NM_001287248.1:c.-630_-627del | NP_001274177.1:n.-630_-627del | |
| XM_011521882.1:c.662_665del | XP_011520184.1:p.Thr221ArgfsTer10 | |
| XM_011521882.3:c.662_665del | XP_011520184.1:p.Thr221ArgfsTer10 | |
| NM_000057.4:c.662_665del MANE Select | NP_000048.1:p.Thr221ArgfsTer10 | |
| NM_001287246.2:c.662_665del | NP_001274175.1:p.Thr221ArgfsTer10 | |
| NM_001287247.2:c.662_665del | NP_001274176.1:p.Thr221ArgfsTer10 | |
| NM_001287248.2:c.-630_-627del | NP_001274177.1:n.-630_-627del |