Linked Data
ClinVar Variation Id:
157518
ClinVar RCV Id:
RCV000191951
dbSNP Id:
rs797044481
PubMed:
PMID:26603463
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12717966delinsTAA , CM000674.2:g.12717966delinsTAA | GRCh38 |
| NC_000012.11:g.12870900delinsTAA , CM000674.1:g.12870900delinsTAA | GRCh37 |
| NC_000012.10:g.12762167delinsTAA | NCBI36 |
| NG_016341.1:g.5599delinsTAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000614874.2:c.127delinsTAA | ENSP00000507272.1:p.Arg43Ter | |
| ENST00000682620.1:n.1631-859delinsTAA | ||
| ENST00000684771.1:n.585-859delinsTAA | ||
| ENST00000228872.9:c.127delinsTAA MANE Select | ENSP00000228872.4:p.Arg43Ter | |
| ENST00000228872.8:c.127delinsTAA | ENSP00000228872.4:p.Arg43Ter | |
| ENST00000396340.1:c.127delinsTAA | ENSP00000379629.1:p.Arg43Ter | |
| ENST00000442489.1:c.106delinsTAA | ENSP00000407597.1:p.Arg36Ter | |
| ENST00000477087.1:n.155-859delinsTAA | ||
| NM_004064.4:c.127delinsTAA | NP_004055.1:p.Arg43Ter | |
| NM_004064.5:c.127delinsTAA MANE Select | NP_004055.1:p.Arg43Ter |