Linked Data
dbSNP Id:
rs2124486120
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2787322del , CM000686.2:g.2787322del | GRCh38 |
| NC_000024.9:g.2655363del , CM000686.1:g.2655363del | GRCh37 |
| NC_000024.8:g.2715363del | NCBI36 |
| NG_011751.1:g.5432del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000679518.1:n.106+12583del | ||
| ENST00000679825.1:n.434del | ||
| ENST00000680285.1:n.320-2427del | ||
| ENST00000680845.1:n.166-158del | ||
| ENST00000681787.1:n.106+12583del | ||
| ENST00000681940.1:n.106+12583del | ||
| ENST00000383070.2:c.284del MANE Select | ENSP00000372547.1:p.Gly95AspfsTer? | |
| ENST00000383070.1:c.284del | ENSP00000372547.1:p.Gly95AspfsTer? | |
| NM_003140.2:c.284del | NP_003131.1:p.Gly95AspfsTer? | |
| NM_003140.3:c.284del MANE Select | NP_003131.1:p.Gly95AspfsTer? |