Linked Data
dbSNP Id:
rs1660479544
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94041305del , CM000663.2:g.94041305del | GRCh38 |
| NC_000001.10:g.94506861del , CM000663.1:g.94506861del | GRCh37 |
| NC_000001.9:g.94279449del | NCBI36 |
| NG_009073.1:g.84845del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3426del MANE Select | ENSP00000359245.3:p.Thr1143ProfsTer5 | |
| ENST00000370225.3:c.3426del | ENSP00000359245.3:p.Thr1143ProfsTer5 | |
| ENST00000536513.5:c.-64-1216del | ENSP00000439707.2:n.-64-1216del | |
| NM_000350.2:c.3426del | NP_000341.2:p.Thr1143ProfsTer5 | |
| NM_000350.3:c.3426del MANE Select | NP_000341.2:p.Thr1143ProfsTer5 |