Linked Data
ClinVar Variation Id:
21615
ClinVar RCV Id:
RCV000020805
dbSNP Id:
rs199422179
PubMed:
PMID:20301772
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197100873del , CM000663.2:g.197100873del | GRCh38 |
| NC_000001.10:g.197070003del , CM000663.1:g.197070003del | GRCh37 |
| NC_000001.9:g.195336626del | NCBI36 |
| NG_015867.1:g.50822del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367408.6:n.2108-4709del | ||
| ENST00000367409.9:c.8378del MANE Select | ENSP00000356379.4:p.Met2793ArgfsTer27 | |
| ENST00000680265.1:c.8378del | ENSP00000505384.1:p.Met2793ArgfsTer27 | |
| ENST00000680710.1:c.8378del | ENSP00000506676.1:p.Met2793ArgfsTer27 | |
| ENST00000294732.11:c.4066-4709del | ENSP00000294732.7:n.4066-4709del | |
| ENST00000367408.5:c.1816-4709del | ENSP00000356378.1:n.1816-4709del | |
| ENST00000367409.8:c.8378del | ENSP00000356379.4:p.Met2793ArgfsTer27 | |
| ENST00000612785.1:c.2336del | ENSP00000479244.1:p.Met779ArgfsTer27 | |
| NM_001206846.1:c.4066-4709del | NP_001193775.1:n.4066-4709del | |
| NM_018136.4:c.8378del | NP_060606.3:p.Met2793ArgfsTer27 | |
| NM_018136.5:c.8378del MANE Select | NP_060606.3:p.Met2793ArgfsTer27 | |
| NM_001206846.2:c.4066-4709del | NP_001193775.1:n.4066-4709del |