Linked Data
dbSNP Id:
rs879470549
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20425656del , CM000684.2:g.20425656del | GRCh38 |
| NG_031868.2:g.17204del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622235.5:c.2320del MANE Select | ENSP00000477564.2:p.Leu774CysfsTer? | |
| ENST00000615031.4:c.2332del | ENSP00000479389.1:p.Leu778CysfsTer? | |
| ENST00000622235.4:c.2320del | ENSP00000477564.1:p.Leu774CysfsTer? | |
| ENST00000623402.1:c.2335del | ENSP00000485276.1:p.Leu779CysfsTer? | |
| NM_153334.6:c.2335del | NP_699165.3:p.Leu779CysfsTer? | |
| NM_182895.4:c.2320del | NP_878315.2:p.Leu774CysfsTer? | |
| NM_153334.7:c.2335del | NP_699165.3:p.Leu779CysfsTer? | |
| NM_182895.5:c.2320del MANE Select | NP_878315.2:p.Leu774CysfsTer? |