Linked Data
ClinVar Variation Id:
459627
dbSNP Id:
rs367543270
MyVariant Identifiers:
chr9:g.34648861_34648863delinsTAG (hg19)
chr9:g.34648864_34648866delinsTAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648864_34648866delinsTAG , CM000671.2:g.34648864_34648866delinsTAG | GRCh38 |
| NC_000009.11:g.34648861_34648863delinsTAG , CM000671.1:g.34648861_34648863delinsTAG | GRCh37 |
| NC_000009.10:g.34638861_34638863delinsTAG | NCBI36 |
| NG_009029.1:g.7227_7229delinsTAG | |
| NG_028966.1:g.1680_1682delinsTAG | |
| NG_009029.2:g.7276_7278delinsTAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*378_*380delinsTAG | ENSP00000509954.1:n.*378_*380delinsTAG | |
| ENST00000378842.8:c.790_792delinsTAG MANE Select | ENSP00000368119.4:p.Leu264Ter | |
| ENST00000378842.7:c.790_792delinsTAG | ENSP00000368119.3:p.Leu264Ter | |
| ENST00000450095.6:c.463_465delinsTAG | ENSP00000401956.2:p.Leu155Ter | |
| ENST00000473506.6:c.*378_*380delinsTAG | ENSP00000432839.2:n.*378_*380delinsTAG | |
| ENST00000489643.6:n.870_872delinsTAG | ||
| ENST00000554085.5:c.*534_*536delinsTAG | ENSP00000450419.1:n.*534_*536delinsTAG | |
| ENST00000554550.5:c.*410_*412delinsTAG | ENSP00000451435.1:n.*410_*412delinsTAG | |
| ENST00000554638.5:n.1262_1264delinsTAG | ||
| ENST00000555020.5:n.1251_1253delinsTAG | ||
| ENST00000555086.5:n.794_796delinsTAG | ||
| ENST00000555754.1:n.135_137delinsTAG | ||
| ENST00000556244.1:c.777_779delinsTAG | ||
| ENST00000556278.1:c.432+408_432+410delinsTAG | ENSP00000451792.1:n.432+408_432+410delins... | |
| ENST00000557706.5:n.1352_1354delinsTAG | ||
| NM_000155.3:c.790_792delinsTAG | NP_000146.2:p.Leu264Ter | |
| NM_001258332.1:c.463_465delinsTAG | NP_001245261.1:p.Leu155Ter | |
| NM_000155.4:c.790_792delinsTAG MANE Select | NP_000146.2:p.Leu264Ter | |
| NM_001258332.2:c.463_465delinsTAG | NP_001245261.1:p.Leu155Ter |