Linked Data
dbSNP Id:
rs2145092605
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.73196672del , CM000679.2:g.73196672del | GRCh38 |
| NC_000017.10:g.71192811del , CM000679.1:g.71192811del | GRCh37 |
| NC_000017.9:g.68704406del | NCBI36 |
| NG_008971.1:g.8639del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299886.9:c.481del MANE Select | ENSP00000299886.4:p.Ser161LeufsTer? | |
| ENST00000299886.8:c.481del | ENSP00000299886.4:p.Ser161LeufsTer? | |
| ENST00000438720.7:c.479del | ||
| ENST00000582587.2:c.478del | ||
| ENST00000618996.4:c.481del | ENSP00000479450.1:p.Ser161LeufsTer? | |
| NM_018714.2:c.481del | NP_061184.1:p.Ser161LeufsTer? | |
| NM_018714.3:c.481del MANE Select | NP_061184.1:p.Ser161LeufsTer? |