Linked Data
ClinVar Variation Id:
1662
ClinVar RCV Id:
RCV000001729
dbSNP Id:
rs387906258
PubMed:
PMID:9415400
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57765171del , CM000674.2:g.57765171del | GRCh38 |
| NC_000012.11:g.58158954del , CM000674.1:g.58158954del | GRCh37 |
| NC_000012.10:g.56445221del | NCBI36 |
| NG_007076.1:g.7024del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000546609.2:n.543del | ||
| ENST00000713544.1:c.712del | ENSP00000518840.1:p.Glu238ArgfsTer24 | |
| ENST00000713545.1:c.689del | ENSP00000518841.1:p.Gly230GlufsTer? | |
| ENST00000228606.9:c.631del MANE Select | ENSP00000228606.4:p.Glu211ArgfsTer24 | |
| ENST00000228606.8:c.631del | ENSP00000228606.4:p.Glu211ArgfsTer24 | |
| ENST00000546567.5:c.-75del | ENSP00000449472.1:n.-75del | |
| ENST00000546609.1:c.543del | ||
| ENST00000547344.5:n.770del | ||
| ENST00000547451.1:n.431del | ||
| NM_000785.3:c.631del | NP_000776.1:p.Glu211ArgfsTer24 | |
| NM_000785.4:c.631del MANE Select | NP_000776.1:p.Glu211ArgfsTer24 |