Linked Data
ClinVar Variation Id:
190239
ClinVar RCV Id:
RCV000170462
dbSNP Id:
rs786205883
PubMed:
PMID:24478002
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20431418_20431434del , CM000684.2:g.20431418_20431434del | GRCh38 |
| NC_000022.10:g.20785705_20785721del , CM000684.1:g.20785705_20785721del | GRCh37 |
| NC_000022.9:g.19115705_19115721del | NCBI36 |
| NG_031868.2:g.11429_11445del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622235.5:c.441_457del MANE Select | ENSP00000477564.2:p.Trp148AlafsTer20 | |
| ENST00000429594.1:c.179-874_179-858del | ||
| ENST00000615031.4:c.441_457del | ENSP00000479389.1:p.Trp148AlafsTer20 | |
| ENST00000622235.4:c.441_457del | ENSP00000477564.1:p.Trp148AlafsTer20 | |
| ENST00000623402.1:c.441_457del | ENSP00000485276.1:p.Trp148AlafsTer20 | |
| NM_153334.6:c.441_457del | NP_699165.3:p.Trp148AlafsTer20 | |
| NM_182895.4:c.441_457del | NP_878315.2:p.Trp148AlafsTer20 | |
| XM_017029065.2:c.441_457del | XP_016884554.1:p.Trp148AlafsTer20 | |
| NM_153334.7:c.441_457del | NP_699165.3:p.Trp148AlafsTer20 | |
| NM_182895.5:c.441_457del MANE Select | NP_878315.2:p.Trp148AlafsTer20 |