Linked Data
ClinVar Variation Id:
11322
ClinVar RCV Id:
RCV003556003
dbSNP Id:
rs869320665
PubMed:
PMID:11601506
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101348593del , CM000685.2:g.101348593del | GRCh38 |
| NC_000023.10:g.100603581del , CM000685.1:g.100603581del | GRCh37 |
| NC_000023.9:g.100490237del | NCBI36 |
| NG_009616.1:g.42633del , LRG_128:g.42633del | |
| NG_011734.1:g.5378del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372902.4:c.73del MANE Select | ENSP00000361993.3:p.Val25Ter | |
| ENST00000644112.2:c.73del | ENSP00000494385.1:p.Val25Ter | |
| ENST00000645279.1:c.73del | ENSP00000494239.1:p.Val25Ter | |
| ENST00000372902.3:c.73del | ENSP00000361993.3:p.Val25Ter | |
| ENST00000480575.1:n.158del | ||
| NM_001145951.1:c.73del | NP_001139423.1:p.Val25Ter | |
| NM_004085.3:c.73del | NP_004076.1:p.Val25Ter | |
| NM_004085.4:c.73del MANE Select | NP_004076.1:p.Val25Ter | |
| NM_001145951.2:c.73del | NP_001139423.1:p.Val25Ter |