Linked Data
ClinVar Variation Id:
66966
ClinVar RCV Id:
RCV000057499
dbSNP Id:
rs267607475
PubMed:
PMID:19609311
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52469689_52469715del , CM000674.2:g.52469689_52469715del | GRCh38 |
| NC_000012.11:g.52863473_52863499del , CM000674.1:g.52863473_52863499del | GRCh37 |
| NC_000012.10:g.51149740_51149766del | NCBI36 |
| NG_012416.1:g.9076_9102del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252250.7:c.1384_1410del MANE Select | ENSP00000252250.6:p.Ile462_Glu470del | |
| ENST00000252250.6:c.1384_1410del | ENSP00000252250.6:p.Ile462_Glu470del | |
| NM_173086.4:c.1384_1410del | NP_775109.2:p.Ile462_Glu470del | |
| NM_173086.5:c.1384_1410del MANE Select | NP_775109.2:p.Ile462_Glu470del |