Linked Data
dbSNP Id:
rs1823240802
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86643861del , CM000670.2:g.86643861del | GRCh38 |
| NC_000008.10:g.87656089del , CM000670.1:g.87656089del | GRCh37 |
| NC_000008.9:g.87725205del | NCBI36 |
| NG_016980.1:g.104816del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.1069del MANE Select | ENSP00000316605.5:p.Thr357LeufsTer? | |
| ENST00000681546.1:n.889del | ||
| ENST00000681746.1:c.1069del | ENSP00000505959.1:p.Thr357LeufsTer? | |
| ENST00000320005.5:c.1069del | ENSP00000316605.5:p.Thr357LeufsTer? | |
| NM_019098.4:c.1069del | NP_061971.3:p.Thr357LeufsTer? | |
| XM_011517138.1:c.655del | XP_011515440.1:p.Thr219LeufsTer? | |
| XM_011517138.2:c.655del | XP_011515440.1:p.Thr219LeufsTer? | |
| NM_019098.5:c.1069del MANE Select | NP_061971.3:p.Thr357LeufsTer? |