Linked Data
ClinVar Variation Id:
199822
dbSNP Id:
rs794728091
gnomAD v2:
18-29101147-A-AT
gnomAD v4:
18-31521184-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31521184_31521185insT , CM000680.2:g.31521184_31521185insT | GRCh38 |
| NC_000018.9:g.29101147_29101148insT , CM000680.1:g.29101147_29101148insT | GRCh37 |
| NC_000018.8:g.27355145_27355146insT | NCBI36 |
| NG_007072.3:g.27943_27944insT , LRG_397:g.27943_27944insT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682087.2:n.295_296insT | ||
| ENST00000682241.2:c.464_465insT | ENSP00000507600.2:p.Glu156ArgfsTer14 | |
| ENST00000683614.2:n.295_296insT | ||
| ENST00000682087.1:c.295_296insT | ||
| ENST00000682241.1:c.295_296insT | ||
| ENST00000683614.1:c.295_296insT | ||
| ENST00000683654.1:c.464_465insT | ENSP00000506971.1:p.Glu156ArgfsTer14 | |
| ENST00000684461.1:n.295_296insT | ||
| ENST00000261590.13:c.464_465insT MANE Select | ENSP00000261590.8:p.Glu156ArgfsTer14 | |
| ENST00000261590.12:c.464_465insT | ENSP00000261590.8:p.Glu156ArgfsTer14 | |
| ENST00000585206.1:c.464_465insT | ENSP00000462503.1:p.Glu156ArgfsTer14 | |
| NM_001943.3:c.464_465insT , LRG_397t1:c.464_465insT | NP_001934.2:p.Glu156ArgfsTer14 | |
| NM_001943.4:c.464_465insT | NP_001934.2:p.Glu156ArgfsTer14 | |
| XM_024451095.1:c.-71_-70insT | XP_024306863.1:n.-71_-70insT | |
| NM_001943.5:c.464_465insT MANE Select | NP_001934.2:p.Glu156ArgfsTer14 |