Linked Data
ClinVar Variation Id:
144066
dbSNP Id:
rs587777665
gnomAD v2:
10-69991381-CG-C
gnomAD v3:
10-68231624-CG-C
gnomAD v4:
10-68231624-CG-C
PubMed:
PMID:22068589
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68231629del , CM000672.2:g.68231629del | GRCh38 |
| NC_000010.10:g.69991386del , CM000672.1:g.69991386del | GRCh37 |
| NC_000010.9:g.69661392del | NCBI36 |
| NG_031934.1:g.5489del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373673.5:c.53del MANE Select | ENSP00000362777.3:p.Pro18ArgfsTer? | |
| ENST00000373673.4:c.53del | ENSP00000362777.3:p.Pro18ArgfsTer? | |
| NM_145178.3:c.53del | NP_660161.1:p.Pro18ArgfsTer? | |
| NM_145178.4:c.53del MANE Select | NP_660161.1:p.Pro18ArgfsTer? |