Linked Data
ClinVar Variation Id:
2079910
ClinVar RCV Id:
RCV002998882
dbSNP Id:
rs1946492719
gnomAD v3:
12-12718099-TCTA-T
gnomAD v4:
12-12718099-TCTA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12718104_12718106del , CM000674.2:g.12718104_12718106del | GRCh38 |
| NC_000012.11:g.12871038_12871040del , CM000674.1:g.12871038_12871040del | GRCh37 |
| NC_000012.10:g.12762305_12762307del | NCBI36 |
| NG_016341.1:g.5737_5739del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.265_267del | ENSP00000507272.1:p.Tyr89del | |
| ENST00000682620.1:n.1631-721_1631-719del | ||
| ENST00000684771.1:n.585-721_585-719del | ||
| ENST00000228872.9:c.265_267del MANE Select | ENSP00000228872.4:p.Tyr89del | |
| ENST00000228872.8:c.265_267del | ENSP00000228872.4:p.Tyr89del | |
| ENST00000396340.1:c.265_267del | ENSP00000379629.1:p.Tyr89del | |
| ENST00000442489.1:c.193+51_193+53del | ENSP00000407597.1:n.193+51_193+53del | |
| ENST00000477087.1:n.155-721_155-719del | ||
| NM_004064.4:c.265_267del | NP_004055.1:p.Tyr89del | |
| NM_004064.5:c.265_267del MANE Select | NP_004055.1:p.Tyr89del |