Linked Data
ClinVar Variation Id:
157519
ClinVar RCV Id:
RCV000191952
dbSNP Id:
rs797044482
PubMed:
PMID:26603463
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12718118_12718119insT , CM000674.2:g.12718118_12718119insT | GRCh38 |
| NC_000012.11:g.12871052_12871053insT , CM000674.1:g.12871052_12871053insT | GRCh37 |
| NC_000012.10:g.12762319_12762320insT | NCBI36 |
| NG_016341.1:g.5751_5752insT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000614874.2:c.279_280insT | ENSP00000507272.1:p.Pro94SerfsTer? | |
| ENST00000682620.1:n.1631-707_1631-706insT | ||
| ENST00000684771.1:n.585-707_585-706insT | ||
| ENST00000228872.9:c.279_280insT MANE Select | ENSP00000228872.4:p.Pro94SerfsTer? | |
| ENST00000228872.8:c.279_280insT | ENSP00000228872.4:p.Pro94SerfsTer? | |
| ENST00000396340.1:c.279_280insT | ENSP00000379629.1:p.Pro94SerfsTer? | |
| ENST00000442489.1:c.193+65_193+66insT | ENSP00000407597.1:n.193+65_193+66insT | |
| ENST00000477087.1:n.155-707_155-706insT | ||
| NM_004064.4:c.279_280insT | NP_004055.1:p.Pro94SerfsTer? | |
| NM_004064.5:c.279_280insT MANE Select | NP_004055.1:p.Pro94SerfsTer? |