Linked Data
ClinVar Variation Id:
495613
ClinVar RCV Id:
RCV000589598
dbSNP Id:
rs1555397163
PubMed:
PMID:25652356
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48468045_48468046del , CM000677.2:g.48468045_48468046del | GRCh38 |
| NC_000015.9:g.48760242_48760243del , CM000677.1:g.48760242_48760243del | GRCh37 |
| NC_000015.8:g.46547534_46547535del | NCBI36 |
| NG_008805.2:g.182744_182745del , LRG_778:g.182744_182745del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.4640_4641del | ENSP00000453958.2:p.Thr1547SerfsTer5 | |
| ENST00000674301.2:c.4640_4641del | ENSP00000501333.2:p.Thr1547SerfsTer5 | |
| ENST00000684448.1:n.3314_3315del | ||
| ENST00000316623.10:c.4640_4641del MANE Select | ENSP00000325527.5:p.Thr1547SerfsTer5 | |
| ENST00000316623.9:c.4640_4641del | ENSP00000325527.5:p.Thr1547SerfsTer5 | |
| ENST00000537463.6:c.*403_*404del | ENSP00000440294.2:n.*403_*404del | |
| NM_000138.4:c.4640_4641del , LRG_778t1:c.4640_4641del | NP_000129.3:p.Thr1547SerfsTer5 | |
| NM_000138.5:c.4640_4641del MANE Select | NP_000129.3:p.Thr1547SerfsTer5 |