Linked Data
ClinVar Variation Id:
97149
ClinVar RCV Id:
RCV000083381
dbSNP Id:
rs72554343
PubMed:
PMID:11117428
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38369850del , CM000685.2:g.38369850del | GRCh38 |
| NC_000023.10:g.38229103del , CM000685.1:g.38229103del | GRCh37 |
| NC_000023.9:g.38114047del | NCBI36 |
| NG_008471.1:g.22368del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.271del MANE Select | ENSP00000039007.4:p.Thr91LeufsTer30 | |
| ENST00000643344.1:c.271del | ENSP00000496606.1:p.Thr91LeufsTer12 | |
| ENST00000039007.4:c.271del | ENSP00000039007.4:p.Thr91LeufsTer30 | |
| ENST00000465127.1:c.172-296271del | ENSP00000417050.1:n.172-296271del | |
| ENST00000488812.1:n.353+10del | ||
| NM_000531.5:c.271del | NP_000522.3:p.Thr91LeufsTer30 | |
| XM_017029556.1:c.271del | XP_016885045.1:p.Thr91LeufsTer30 | |
| NM_000531.6:c.271del MANE Select | NP_000522.3:p.Thr91LeufsTer30 |