Linked Data
ClinVar Variation Id:
1663
ClinVar RCV Id:
RCV000001730
dbSNP Id:
rs387906259
PubMed:
PMID:9415400
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57765109del , CM000674.2:g.57765109del | GRCh38 |
| NC_000012.11:g.58158892del , CM000674.1:g.58158892del | GRCh37 |
| NC_000012.10:g.56445159del | NCBI36 |
| NG_007076.1:g.7086del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000546609.2:n.605del | ||
| ENST00000713544.1:c.774del | ENSP00000518840.1:p.Thr259ArgfsTer3 | |
| ENST00000713545.1:c.751del | ENSP00000518841.1:p.His251ThrfsTer? | |
| ENST00000228606.9:c.693del MANE Select | ENSP00000228606.4:p.Thr232ArgfsTer3 | |
| ENST00000228606.8:c.693del | ENSP00000228606.4:p.Thr232ArgfsTer3 | |
| ENST00000546567.5:c.-13del | ENSP00000449472.1:n.-13del | |
| ENST00000546609.1:c.605del | ||
| ENST00000547344.5:n.832del | ||
| ENST00000547451.1:n.493del | ||
| NM_000785.3:c.693del | NP_000776.1:p.Thr232ArgfsTer3 | |
| NM_000785.4:c.693del MANE Select | NP_000776.1:p.Thr232ArgfsTer3 |