Linked Data
ClinVar Variation Id:
97141
ClinVar RCV Id:
RCV000083372
dbSNP Id:
rs72554334
PubMed:
PMID:7627182
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38369822_38369824del , CM000685.2:g.38369822_38369824del | GRCh38 |
| NC_000023.10:g.38229075_38229077del , CM000685.1:g.38229075_38229077del | GRCh37 |
| NC_000023.9:g.38114019_38114021del | NCBI36 |
| NG_008471.1:g.22340_22342del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.243_245del MANE Select | ENSP00000039007.4:p.Leu82del | |
| ENST00000643344.1:c.243_245del | ENSP00000496606.1:p.Leu82del | |
| ENST00000039007.4:c.243_245del | ENSP00000039007.4:p.Leu82del | |
| ENST00000465127.1:c.172-296299_172-296297del | ENSP00000417050.1:n.172-296299_172-296297... | |
| ENST00000488812.1:n.335_337del | ||
| NM_000531.5:c.243_245del | NP_000522.3:p.Leu82del | |
| XM_017029556.1:c.243_245del | XP_016885045.1:p.Leu82del | |
| NM_000531.6:c.243_245del MANE Select | NP_000522.3:p.Leu82del |