Linked Data
ClinVar Variation Id:
21591
ClinVar RCV Id:
RCV000020781
dbSNP Id:
rs199422167
COSMIC:
COSM252956
PubMed:
PMID:20301772
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197104108del , CM000663.2:g.197104108del | GRCh38 |
| NC_000001.10:g.197073238del , CM000663.1:g.197073238del | GRCh37 |
| NC_000001.9:g.195339861del | NCBI36 |
| NG_015867.1:g.47593del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367408.6:n.2108-7938del | ||
| ENST00000367409.9:c.5149del MANE Select | ENSP00000356379.4:p.Ile1717Ter | |
| ENST00000680265.1:c.5149del | ENSP00000505384.1:p.Ile1717Ter | |
| ENST00000680710.1:c.5149del | ENSP00000506676.1:p.Ile1717Ter | |
| ENST00000294732.11:c.4066-7938del | ENSP00000294732.7:n.4066-7938del | |
| ENST00000367408.5:c.1816-7938del | ENSP00000356378.1:n.1816-7938del | |
| ENST00000367409.8:c.5149del | ENSP00000356379.4:p.Ile1717Ter | |
| ENST00000612785.1:c.562-1455del | ENSP00000479244.1:n.562-1455del | |
| NM_001206846.1:c.4066-7938del | NP_001193775.1:n.4066-7938del | |
| NM_018136.4:c.5149del | NP_060606.3:p.Ile1717Ter | |
| NM_018136.5:c.5149del MANE Select | NP_060606.3:p.Ile1717Ter | |
| NM_001206846.2:c.4066-7938del | NP_001193775.1:n.4066-7938del |