Linked Data
ClinVar Variation Id:
370671
ClinVar RCV Id:
RCV000409261
dbSNP Id:
rs1057516674
gnomAD v4:
17-42901025-GGT-G
PubMed:
PMID:11596659
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42901026_42901027del , CM000679.2:g.42901026_42901027del | GRCh38 |
| NC_000017.10:g.41053043_41053044del , CM000679.1:g.41053043_41053044del | GRCh37 |
| NC_000017.9:g.38306569_38306570del | NCBI36 |
| NG_011808.1:g.5229_5230del , LRG_147:g.5229_5230del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.150_151del MANE Select | ENSP00000253801.1:p.Trp50CysfsTer10 | |
| ENST00000253801.6:c.150_151del | ENSP00000253801.1:p.Trp50CysfsTer10 | |
| ENST00000585489.1:c.150_151del | ENSP00000466202.1:p.Trp50CysfsTer10 | |
| ENST00000588481.1:n.215_216del | ||
| ENST00000592383.5:c.150_151del | ENSP00000465958.1:p.Trp50CysfsTer10 | |
| NM_000151.3:c.150_151del | NP_000142.2:p.Trp50CysfsTer10 | |
| NM_001270397.1:c.150_151del | NP_001257326.1:p.Trp50CysfsTer10 | |
| NM_000151.4:c.150_151del MANE Select | NP_000142.2:p.Trp50CysfsTer10 | |
| NM_001270397.2:c.150_151del | NP_001257326.1:p.Trp50CysfsTer10 |