Linked Data
ClinVar Variation Id:
372732
dbSNP Id:
rs1057517952
gnomAD v3:
1-63415875-TTTG-T
gnomAD v4:
1-63415875-TTTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63415878_63415880del , CM000663.2:g.63415878_63415880del | GRCh38 |
| NC_000001.10:g.63881549_63881551del , CM000663.1:g.63881549_63881551del | GRCh37 |
| NC_000001.9:g.63654137_63654139del | NCBI36 |
| NG_008925.2:g.53289_53291del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263440.6:c.908_910del MANE Select | ENSP00000263440.5:p.Cys303del | |
| ENST00000603108.6:c.*57_*59del | ENSP00000473934.2:n.*57_*59del | |
| ENST00000647818.1:c.*214_*216del | ENSP00000497667.1:n.*214_*216del | |
| ENST00000648964.1:c.*637_*639del | ENSP00000497828.1:n.*637_*639del | |
| ENST00000649570.1:c.*330_*332del | ENSP00000497742.1:n.*330_*332del | |
| ENST00000650494.1:c.*265_*267del | ENSP00000497170.1:n.*265_*267del | |
| ENST00000263440.4:c.914_916del | ENSP00000263440.4:p.Cys305del | |
| ENST00000371108.8:c.908_910del | ENSP00000360149.4:p.Cys303del | |
| ENST00000465969.5:n.497_499del | ||
| ENST00000603108.5:c.832_834del | ENSP00000473934.1:p.Val278del | |
| NM_013339.3:c.908_910del | NP_037471.2:p.Cys303del | |
| NM_013339.4:c.908_910del MANE Select | NP_037471.2:p.Cys303del |