Linked Data
ClinVar Variation Id:
805814
ClinVar RCV Id:
RCV000993631
dbSNP Id:
rs1592978950
ERepo:
CA16020742/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894893_102894897del , CM000674.2:g.102894893_102894897del | GRCh38 |
| NC_000012.11:g.103288671_103288675del , CM000674.1:g.103288671_103288675del | GRCh37 |
| NC_000012.10:g.101812801_101812805del | NCBI36 |
| NG_008690.1:g.27706_27710del | |
| NG_008690.2:g.68514_68518del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.190_194del MANE Select | ENSP00000448059.1:p.His64Ter | |
| ENST00000307000.7:c.175_179del | ENSP00000303500.2:p.His59Ter | |
| ENST00000546844.1:c.190_194del | ENSP00000446658.1:p.His64Ter | |
| ENST00000548677.2:n.277_281del | ||
| ENST00000548928.1:n.112_116del | ||
| ENST00000549111.5:n.286_290del | ||
| ENST00000550978.6:c.174_178del | ||
| ENST00000551337.5:c.190_194del | ENSP00000447620.1:p.His64Ter | |
| ENST00000551988.5:n.279_283del | ||
| ENST00000553106.5:c.190_194del | ENSP00000448059.1:p.His64Ter | |
| ENST00000635500.1:n.158_162del | ||
| NM_000277.1:c.190_194del | NP_000268.1:p.His64Ter | |
| XM_011538422.1:c.190_194del | XP_011536724.1:p.His64Ter | |
| NM_000277.2:c.190_194del | NP_000268.1:p.His64Ter | |
| NM_001354304.1:c.190_194del | NP_001341233.1:p.His64Ter | |
| XM_017019370.2:c.190_194del | XP_016874859.1:p.His64Ter | |
| NM_000277.3:c.190_194del MANE Select | NP_000268.1:p.His64Ter | |
| NM_001354304.2:c.190_194del | NP_001341233.1:p.His64Ter |