Linked Data
ClinVar Variation Id:
932273
ClinVar RCV Id:
RCV001200009
dbSNP Id:
rs1874535712
ERepo:
CA16020991/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102840410del , CM000674.2:g.102840410del | GRCh38 |
| NC_000012.11:g.103234188del , CM000674.1:g.103234188del | GRCh37 |
| NC_000012.10:g.101758318del | NCBI36 |
| NG_008690.1:g.82194del | |
| NG_008690.2:g.123002del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.1306del MANE Select | ENSP00000448059.1:p.Ser436ProfsTer16 | |
| ENST00000307000.7:c.1291del | ENSP00000303500.2:p.Ser431ProfsTer16 | |
| ENST00000551114.2:n.968del | ||
| ENST00000553106.5:c.1306del | ENSP00000448059.1:p.Ser436ProfsTer16 | |
| ENST00000635477.1:c.410del | ||
| ENST00000635528.1:n.821del | ||
| NM_000277.1:c.1306del | NP_000268.1:p.Ser436ProfsTer16 | |
| XM_011538422.1:c.1249del | XP_011536724.1:p.Ser417ProfsTer16 | |
| NM_000277.2:c.1306del | NP_000268.1:p.Ser436ProfsTer16 | |
| NM_001354304.1:c.1306del | NP_001341233.1:p.Ser436ProfsTer16 | |
| NM_000277.3:c.1306del MANE Select | NP_000268.1:p.Ser436ProfsTer16 | |
| NM_001354304.2:c.1306del | NP_001341233.1:p.Ser436ProfsTer16 |