Linked Data
ClinVar Variation Id:
634
dbSNP Id:
rs62642941
PubMed:
PMID:9450182
ERepo:
CA229356/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843717del , CM000674.2:g.102843717del | GRCh38 |
| NC_000012.11:g.103237495del , CM000674.1:g.103237495del | GRCh37 |
| NC_000012.10:g.101761625del | NCBI36 |
| NG_008690.1:g.78887del | |
| NG_008690.2:g.119695del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1129del MANE Select | ENSP00000448059.1:p.Tyr377ThrfsTer23 | |
| ENST00000307000.7:c.1114del | ENSP00000303500.2:p.Tyr372ThrfsTer23 | |
| ENST00000549247.6:n.888del | ||
| ENST00000551114.2:n.791del | ||
| ENST00000553106.5:c.1129del | ENSP00000448059.1:p.Tyr377ThrfsTer23 | |
| ENST00000635477.1:c.233del | ||
| ENST00000635528.1:n.644del | ||
| NM_000277.1:c.1129del | NP_000268.1:p.Tyr377ThrfsTer23 | |
| XM_011538422.1:c.1072del | XP_011536724.1:p.Tyr358ThrfsTer23 | |
| NM_000277.2:c.1129del | NP_000268.1:p.Tyr377ThrfsTer23 | |
| NM_001354304.1:c.1129del | NP_001341233.1:p.Tyr377ThrfsTer23 | |
| NM_000277.3:c.1129del MANE Select | NP_000268.1:p.Tyr377ThrfsTer23 | |
| NM_001354304.2:c.1129del | NP_001341233.1:p.Tyr377ThrfsTer23 |