Linked Data
ClinVar Variation Id:
370703
ClinVar RCV Id:
RCV000412329
dbSNP Id:
rs1057516701
gnomAD v4:
12-76347679-GTCTGTGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76347681_76347687del , CM000674.2:g.76347681_76347687del | GRCh38 |
| NC_000012.11:g.76741461_76741467del , CM000674.1:g.76741461_76741467del | GRCh37 |
| NC_000012.10:g.75265592_75265598del | NCBI36 |
| NG_016357.1:g.5757_5763del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650064.2:c.299_305del MANE Select | ENSP00000497413.1:p.Ile100ThrfsTer7 | |
| ENST00000393262.3:c.299_305del | ENSP00000376946.3:p.Ile100ThrfsTer7 | |
| NM_024685.3:c.299_305del | NP_078961.3:p.Ile100ThrfsTer7 | |
| NM_024685.4:c.299_305del MANE Select | NP_078961.3:p.Ile100ThrfsTer7 |