Linked Data
ClinVar Variation Id:
31843
dbSNP Id:
rs137853865
gnomAD v4:
15-64162866-TG-T
PubMed:
PMID:21282188
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.64162869del , CM000677.2:g.64162869del | GRCh38 |
| NC_000015.9:g.64455068del , CM000677.1:g.64455068del | GRCh37 |
| NC_000015.8:g.62242121del | NCBI36 |
| NG_012979.1:g.5289del , LRG_10:g.5289del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000300026.4:c.120del MANE Select | ENSP00000300026.4:p.Val42SerfsTer16 | |
| ENST00000561048.2:n.153del | ||
| ENST00000680158.1:c.120del | ENSP00000504873.1:p.Val42SerfsTer16 | |
| ENST00000681397.1:c.120del | ENSP00000506584.1:p.Val42SerfsTer16 | |
| ENST00000681658.1:c.30+90del | ENSP00000505431.1:n.30+90del | |
| ENST00000300026.3:c.120del | ENSP00000300026.3:p.Val42SerfsTer16 | |
| ENST00000558492.1:n.140del | ||
| ENST00000561048.1:n.155del | ||
| NM_000942.4:c.120del , LRG_10t1:c.120del | NP_000933.1:p.Val42SerfsTer16 | |
| NM_000942.5:c.120del MANE Select | NP_000933.1:p.Val42SerfsTer16 |