Linked Data
ClinVar Variation Id:
224627
ClinVar RCV Id:
RCV000240779
dbSNP Id:
rs879255277
PubMed:
PMID:27181683
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.40688207del , CM000682.2:g.40688207del | GRCh38 |
| NC_000020.10:g.39316847del , CM000682.1:g.39316847del | GRCh37 |
| NC_000020.9:g.38750261del | NCBI36 |
| NG_023378.1:g.6030del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373313.3:c.644del MANE Select | ENSP00000362410.2:p.Gln215ArgfsTer10 | |
| ENST00000373313.2:c.644del | ENSP00000362410.2:p.Gln215ArgfsTer10 | |
| NM_005461.4:c.644del | NP_005452.2:p.Gln215ArgfsTer10 | |
| NM_005461.5:c.644del MANE Select | NP_005452.2:p.Gln215ArgfsTer10 |