Linked Data
ClinVar Variation Id:
1693244
ClinVar RCV Id:
RCV002260503
dbSNP Id:
rs2136702049
ERepo:
CA16021007/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894883_102894890del , CM000674.2:g.102894883_102894890del | GRCh38 |
| NC_000012.11:g.103288661_103288668del , CM000674.1:g.103288661_103288668del | GRCh37 |
| NC_000012.10:g.101812791_101812798del | NCBI36 |
| NG_008690.1:g.27713_27720del | |
| NG_008690.2:g.68521_68528del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.197_204del MANE Select | ENSP00000448059.1:p.Glu66AlafsTer8 | |
| ENST00000307000.7:c.182_189del | ENSP00000303500.2:p.Glu61AlafsTer8 | |
| ENST00000546844.1:c.197_204del | ENSP00000446658.1:p.Glu66AlafsTer8 | |
| ENST00000548677.2:n.284_291del | ||
| ENST00000548928.1:n.119_126del | ||
| ENST00000549111.5:n.293_300del | ||
| ENST00000550978.6:c.181_188del | ||
| ENST00000551337.5:c.197_204del | ENSP00000447620.1:p.Glu66AlafsTer8 | |
| ENST00000551988.5:n.286_293del | ||
| ENST00000553106.5:c.197_204del | ENSP00000448059.1:p.Glu66AlafsTer8 | |
| ENST00000635500.1:n.165_172del | ||
| NM_000277.1:c.197_204del | NP_000268.1:p.Glu66AlafsTer8 | |
| XM_011538422.1:c.197_204del | XP_011536724.1:p.Glu66AlafsTer8 | |
| NM_000277.2:c.197_204del | NP_000268.1:p.Glu66AlafsTer8 | |
| NM_001354304.1:c.197_204del | NP_001341233.1:p.Glu66AlafsTer8 | |
| XM_017019370.2:c.197_204del | XP_016874859.1:p.Glu66AlafsTer8 | |
| NM_000277.3:c.197_204del MANE Select | NP_000268.1:p.Glu66AlafsTer8 | |
| NM_001354304.2:c.197_204del | NP_001341233.1:p.Glu66AlafsTer8 |