Linked Data
dbSNP Id:
rs2124486036
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2787282del , CM000686.2:g.2787282del | GRCh38 |
| NC_000024.9:g.2655323del , CM000686.1:g.2655323del | GRCh37 |
| NC_000024.8:g.2715323del | NCBI36 |
| NG_011751.1:g.5471del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679518.1:n.106+12543del | ||
| ENST00000679825.1:n.394del | ||
| ENST00000680285.1:n.320-2467del | ||
| ENST00000680845.1:n.166-198del | ||
| ENST00000681787.1:n.106+12543del | ||
| ENST00000681940.1:n.106+12543del | ||
| ENST00000383070.2:c.323del MANE Select | ENSP00000372547.1:p.Pro108HisfsTer? | |
| ENST00000383070.1:c.323del | ENSP00000372547.1:p.Pro108HisfsTer? | |
| NM_003140.2:c.323del | NP_003131.1:p.Pro108HisfsTer? | |
| NM_003140.3:c.323del MANE Select | NP_003131.1:p.Pro108HisfsTer? |