Linked Data
ClinVar Variation Id:
120272
dbSNP Id:
rs281865432
MyVariant Identifiers:
chr12:g.103288580_103288581delinsTG (hg19)
chr12:g.102894802_102894803delinsTG (hg38)
ERepo:
CA267649/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894802_102894803delinsTG , CM000674.2:g.102894802_102894803delinsTG | GRCh38 |
| NC_000012.11:g.103288580_103288581delinsTG , CM000674.1:g.103288580_103288581delinsTG | GRCh37 |
| NC_000012.10:g.101812710_101812711delinsTG | NCBI36 |
| NG_008690.1:g.27800_27801delinsCA | |
| NG_008690.2:g.68608_68609delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.284_285delinsCA MANE Select | ENSP00000448059.1:p.Ile95Thr | |
| ENST00000307000.7:c.269_270delinsCA | ENSP00000303500.2:p.Ile90Thr | |
| ENST00000546844.1:c.284_285delinsCA | ENSP00000446658.1:p.Ile95Thr | |
| ENST00000548677.2:n.371_372delinsCA | ||
| ENST00000548928.1:n.206_207delinsCA | ||
| ENST00000549111.5:n.380_381delinsCA | ||
| ENST00000550978.6:c.268_269delinsCA | ||
| ENST00000551337.5:c.284_285delinsCA | ENSP00000447620.1:p.Ile95Thr | |
| ENST00000551988.5:n.373_374delinsCA | ||
| ENST00000553106.5:c.284_285delinsCA | ENSP00000448059.1:p.Ile95Thr | |
| NM_000277.1:c.284_285delinsCA | NP_000268.1:p.Ile95Thr | |
| XM_011538422.1:c.284_285delinsCA | XP_011536724.1:p.Ile95Thr | |
| NM_000277.2:c.284_285delinsCA | NP_000268.1:p.Ile95Thr | |
| NM_001354304.1:c.284_285delinsCA | NP_001341233.1:p.Ile95Thr | |
| XM_017019370.2:c.284_285delinsCA | XP_016874859.1:p.Ile95Thr | |
| NM_000277.3:c.284_285delinsCA MANE Select | NP_000268.1:p.Ile95Thr | |
| NM_001354304.2:c.284_285delinsCA | NP_001341233.1:p.Ile95Thr |