Linked Data
ClinVar Variation Id:
42522
ClinVar RCV Id:
RCV000628889
dbSNP Id:
rs397515896
PubMed:
PMID:12707239
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47343062del , CM000673.2:g.47343062del | GRCh38 |
| NC_000011.9:g.47364613del , CM000673.1:g.47364613del | GRCh37 |
| NC_000011.8:g.47321189del | NCBI36 |
| NG_007667.1:g.14641del , LRG_386:g.14641del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.1310del MANE Select | ENSP00000442795.1:p.Val437GlyfsTer13 | |
| ENST00000256993.8:c.1310del | ENSP00000256993.5:p.Val437GlyfsTer13 | |
| ENST00000399249.6:c.1310del | ENSP00000382193.2:p.Val437GlyfsTer13 | |
| ENST00000544791.1:c.1310del | ENSP00000444259.1:p.Val437GlyfsTer13 | |
| ENST00000545968.5:c.1310del | ENSP00000442795.1:p.Val437GlyfsTer13 | |
| NM_000256.3:c.1310del , LRG_386t1:c.1310del MANE Select | NP_000247.2:p.Val437GlyfsTer13 | |
| XM_011520117.1:c.1292del | XP_011518419.1:p.Val431GlyfsTer13 | |
| XM_011520118.1:c.1310del | XP_011518420.1:p.Val437GlyfsTer13 |