Linked Data
gnomAD v4:
22-20425872-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20425875del , CM000684.2:g.20425875del | GRCh38 |
| NC_000022.10:g.20780162del , CM000684.1:g.20780162del | GRCh37 |
| NC_000022.9:g.19110162del | NCBI36 |
| NG_031868.2:g.16987del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622235.5:c.2103del MANE Select | ENSP00000477564.2:p.Ser702AlafsTer? | |
| ENST00000615031.4:c.2118del | ENSP00000479389.1:p.Ser707AlafsTer? | |
| ENST00000622235.4:c.2103del | ENSP00000477564.1:p.Ser702AlafsTer? | |
| ENST00000623402.1:c.2118del | ENSP00000485276.1:p.Ser707AlafsTer? | |
| NM_153334.6:c.2118del | NP_699165.3:p.Ser707AlafsTer? | |
| NM_182895.4:c.2103del | NP_878315.2:p.Ser702AlafsTer? | |
| NM_153334.7:c.2118del | NP_699165.3:p.Ser707AlafsTer? | |
| NM_182895.5:c.2103del MANE Select | NP_878315.2:p.Ser702AlafsTer? |