Linked Data
ClinVar Variation Id:
235849
ClinVar RCV Id:
RCV000224084
dbSNP Id:
rs878853146
PubMed:
PMID:25167861
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.29917579_29917588del , CM000685.2:g.29917579_29917588del | GRCh38 |
| NC_000023.10:g.29935696_29935705del , CM000685.1:g.29935696_29935705del | GRCh37 |
| NC_000023.9:g.29845617_29845626del | NCBI36 |
| NG_008292.1:g.1335016_1335025del | |
| NG_008292.2:g.1335016_1335025del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378993.6:c.894_903del MANE Select | ENSP00000368278.1:p.Trp299ThrfsTer18 | |
| ENST00000302196.5:c.117_126del | ENSP00000305200.5:p.Trp40ThrfsTer18 | |
| ENST00000378993.5:c.894_903del | ENSP00000368278.1:p.Trp299ThrfsTer18 | |
| NM_014271.3:c.894_903del | NP_055086.1:p.Trp299ThrfsTer18 | |
| XM_005274441.1:c.894_903del | XP_005274498.1:p.Trp299ThrfsTer18 | |
| XM_011545445.1:c.894_903del | XP_011543747.1:p.Trp299ThrfsTer18 | |
| XM_017029240.1:c.894_903del | XP_016884729.1:p.Trp299ThrfsTer18 | |
| XM_017029241.1:c.516_525del | XP_016884730.1:p.Trp173ThrfsTer18 | |
| NM_014271.4:c.894_903del MANE Select | NP_055086.1:p.Trp299ThrfsTer18 |