Linked Data
ClinVar Variation Id:
97347
ClinVar RCV Id:
RCV000083595
dbSNP Id:
rs72558459
PubMed:
PMID:11891099
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38411884_38411887del , CM000685.2:g.38411884_38411887del | GRCh38 |
| NC_000023.10:g.38271137_38271140del , CM000685.1:g.38271137_38271140del | GRCh37 |
| NC_000023.9:g.38156081_38156084del | NCBI36 |
| NG_008471.1:g.64402_64405del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.890_893del MANE Select | ENSP00000039007.4:p.Asp297GlyfsTer25 | |
| ENST00000643344.1:c.*640_*643del | ENSP00000496606.1:n.*640_*643del | |
| ENST00000039007.4:c.890_893del | ENSP00000039007.4:p.Asp297GlyfsTer25 | |
| ENST00000465127.1:c.172-254237_172-254234del | ENSP00000417050.1:n.172-254237_172-254234... | |
| NM_000531.5:c.890_893del | NP_000522.3:p.Asp297GlyfsTer25 | |
| NM_000531.6:c.890_893del MANE Select | NP_000522.3:p.Asp297GlyfsTer25 |