Linked Data
ClinVar Variation Id:
21597
ClinVar RCV Id:
RCV000020787
dbSNP Id:
rs199422171
PubMed:
PMID:20301772
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197102519del , CM000663.2:g.197102519del | GRCh38 |
| NC_000001.10:g.197071649del , CM000663.1:g.197071649del | GRCh37 |
| NC_000001.9:g.195338272del | NCBI36 |
| NG_015867.1:g.49176del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367408.6:n.2108-6355del | ||
| ENST00000367409.9:c.6732del MANE Select | ENSP00000356379.4:p.Tyr2245ThrfsTer15 | |
| ENST00000680265.1:c.6732del | ENSP00000505384.1:p.Tyr2245ThrfsTer15 | |
| ENST00000680710.1:c.6732del | ENSP00000506676.1:p.Tyr2245ThrfsTer15 | |
| ENST00000294732.11:c.4066-6355del | ENSP00000294732.7:n.4066-6355del | |
| ENST00000367408.5:c.1816-6355del | ENSP00000356378.1:n.1816-6355del | |
| ENST00000367409.8:c.6732del | ENSP00000356379.4:p.Tyr2245ThrfsTer15 | |
| ENST00000612785.1:c.690del | ENSP00000479244.1:p.Tyr231ThrfsTer15 | |
| NM_001206846.1:c.4066-6355del | NP_001193775.1:n.4066-6355del | |
| NM_018136.4:c.6732del | NP_060606.3:p.Tyr2245ThrfsTer15 | |
| NM_018136.5:c.6732del MANE Select | NP_060606.3:p.Tyr2245ThrfsTer15 | |
| NM_001206846.2:c.4066-6355del | NP_001193775.1:n.4066-6355del |