Linked Data
ClinVar Variation Id:
16966
ClinVar RCV Id:
RCV000018479
dbSNP Id:
rs121912972
PubMed:
PMID:10767351
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.174725004del , CM000667.2:g.174725004del | GRCh38 |
| NC_000005.9:g.174152007del , CM000667.1:g.174152007del | GRCh37 |
| NC_000005.8:g.174084613del | NCBI36 |
| NG_008124.1:g.5433del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000239243.7:c.345del MANE Select | ENSP00000239243.5:p.Trp115Ter | |
| ENST00000239243.6:c.345del | ENSP00000239243.5:p.Trp115Ter | |
| ENST00000507785.2:c.345del | ENSP00000427425.1:p.Trp115Ter | |
| NM_002449.4:c.345del | NP_002440.2:p.Trp115Ter | |
| NM_001363626.1:c.345del | NP_001350555.1:p.Trp115Ter | |
| NM_002449.5:c.345del MANE Select | NP_002440.2:p.Trp115Ter | |
| NM_001363626.2:c.345del | NP_001350555.1:p.Trp115Ter |