Linked Data
dbSNP Id:
rs2124485806
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2787179del , CM000686.2:g.2787179del | GRCh38 |
| NC_000024.9:g.2655220del , CM000686.1:g.2655220del | GRCh37 |
| NC_000024.8:g.2715220del | NCBI36 |
| NG_011751.1:g.5573del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679518.1:n.106+12440del | ||
| ENST00000679825.1:n.291del | ||
| ENST00000680285.1:n.320-2570del | ||
| ENST00000680845.1:n.165+126del | ||
| ENST00000681787.1:n.106+12440del | ||
| ENST00000681940.1:n.106+12440del | ||
| ENST00000383070.2:c.425del MANE Select | ENSP00000372547.1:p.Cys142SerfsTer? | |
| ENST00000383070.1:c.425del | ENSP00000372547.1:p.Cys142SerfsTer? | |
| NM_003140.2:c.425del | NP_003131.1:p.Cys142SerfsTer? | |
| NM_003140.3:c.425del MANE Select | NP_003131.1:p.Cys142SerfsTer? |