Linked Data
ClinVar Variation Id:
11319
ClinVar RCV Id:
RCV000012071
dbSNP Id:
rs869320733
PubMed:
PMID:8841189
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101346637_101346646del , CM000685.2:g.101346637_101346646del | GRCh38 |
| NC_000023.10:g.100601625_100601634del , CM000685.1:g.100601625_100601634del | GRCh37 |
| NC_000023.9:g.100488281_100488290del | NCBI36 |
| NG_011734.1:g.7325_7334del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372902.4:c.148_157del MANE Select | ENSP00000361993.3:p.Lys50GlnfsTer12 | |
| ENST00000644112.2:c.*1742_*1751del | ENSP00000494385.1:n.*1742_*1751del | |
| ENST00000645279.1:c.*342_*351del | ENSP00000494239.1:n.*342_*351del | |
| ENST00000647480.1:n.665_674del | ||
| ENST00000372902.3:c.148_157del | ENSP00000361993.3:p.Lys50GlnfsTer12 | |
| NM_004085.3:c.148_157del | NP_004076.1:p.Lys50GlnfsTer12 | |
| NM_004085.4:c.148_157del MANE Select | NP_004076.1:p.Lys50GlnfsTer12 | |
| NM_001145951.2:c.*1742_*1751del | NP_001139423.1:n.*1742_*1751del |