Linked Data
ClinVar Variation Id:
805816
ClinVar RCV Id:
RCV000993633
dbSNP Id:
rs1592978760
ERepo:
CA16020759/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894820_102894821insC , CM000674.2:g.102894820_102894821insC | GRCh38 |
| NC_000012.11:g.103288598_103288599insC , CM000674.1:g.103288598_103288599insC | GRCh37 |
| NC_000012.10:g.101812728_101812729insC | NCBI36 |
| NG_008690.1:g.27782_27783insG | |
| NG_008690.2:g.68590_68591insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.266_267insG MANE Select | ENSP00000448059.1:p.Ala90CysfsTer12 | |
| ENST00000307000.7:c.251_252insG | ENSP00000303500.2:p.Ala85CysfsTer12 | |
| ENST00000546844.1:c.266_267insG | ENSP00000446658.1:p.Ala90CysfsTer12 | |
| ENST00000548677.2:n.353_354insG | ||
| ENST00000548928.1:n.188_189insG | ||
| ENST00000549111.5:n.362_363insG | ||
| ENST00000550978.6:c.250_251insG | ||
| ENST00000551337.5:c.266_267insG | ENSP00000447620.1:p.Ala90CysfsTer12 | |
| ENST00000551988.5:n.355_356insG | ||
| ENST00000553106.5:c.266_267insG | ENSP00000448059.1:p.Ala90CysfsTer12 | |
| NM_000277.1:c.266_267insG | NP_000268.1:p.Ala90CysfsTer12 | |
| XM_011538422.1:c.266_267insG | XP_011536724.1:p.Ala90CysfsTer12 | |
| NM_000277.2:c.266_267insG | NP_000268.1:p.Ala90CysfsTer12 | |
| NM_001354304.1:c.266_267insG | NP_001341233.1:p.Ala90CysfsTer12 | |
| XM_017019370.2:c.266_267insG | XP_016874859.1:p.Ala90CysfsTer12 | |
| NM_000277.3:c.266_267insG MANE Select | NP_000268.1:p.Ala90CysfsTer12 | |
| NM_001354304.2:c.266_267insG | NP_001341233.1:p.Ala90CysfsTer12 |