Linked Data
ClinVar Variation Id:
11677
ClinVar RCV Id:
RCV000012443
dbSNP Id:
rs1555984570
PubMed:
PMID:7839145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.83508972del , CM000685.2:g.83508972del | GRCh38 |
| NC_000023.10:g.82763980del , CM000685.1:g.82763980del | GRCh37 |
| NC_000023.9:g.82650636del | NCBI36 |
| NG_009936.2:g.5712del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644024.2:c.648del MANE Select | ENSP00000495996.1:p.Leu217TrpfsTer24 | |
| ENST00000373200.4:c.648del | ENSP00000362296.2:p.Leu217TrpfsTer24 | |
| NM_000307.4:c.648del | NP_000298.3:p.Leu217TrpfsTer24 | |
| NM_000307.5:c.648del MANE Select | NP_000298.3:p.Leu217TrpfsTer24 |