Linked Data
ClinVar Variation Id:
370421
ClinVar RCV Id:
RCV000409003
dbSNP Id:
rs1057516473
PubMed:
PMID:16473856
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183243175del , CM000663.2:g.183243175del | GRCh38 |
| NC_000001.10:g.183212310del , CM000663.1:g.183212310del | GRCh37 |
| NC_000001.9:g.181478933del | NCBI36 |
| NG_007079.2:g.61912del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264144.5:c.3357del MANE Select | ENSP00000264144.4:p.Leu1120TrpfsTer22 | |
| ENST00000264144.4:c.3357del | ENSP00000264144.4:p.Leu1120TrpfsTer22 | |
| NM_005562.2:c.3357del | NP_005553.2:p.Leu1120TrpfsTer22 | |
| NM_005562.3:c.3357del MANE Select | NP_005553.2:p.Leu1120TrpfsTer22 |