Linked Data
gnomAD v4:
1-17392210-GGGCAGGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17392214_17392220del , CM000663.2:g.17392214_17392220del | GRCh38 |
| NG_032943.1:g.24969_24975del | |
| NG_032943.2:g.24969_24975del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.1063_1069del MANE Select | ENSP00000483125.1:p.Arg355SerfsTer19 | |
| NM_207421.4:c.1063_1069del MANE Select | NP_997304.3:p.Arg355SerfsTer19 |