Linked Data
ClinVar Variation Id:
858381
ClinVar RCV Id:
RCV001064243
dbSNP Id:
rs756891007
ExAC:
8:77895864 CAT / C
gnomAD v2:
8-77895864-CAT-C
gnomAD v4:
8-76983628-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.76983631_76983632del , CM000670.2:g.76983631_76983632del | GRCh38 |
| NC_000008.10:g.77895867_77895868del , CM000670.1:g.77895867_77895868del | GRCh37 |
| NC_000008.9:g.78058422_78058423del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357039.9:c.549_550del MANE Select | ENSP00000349543.4:p.Ile183MetfsTer2 | |
| ENST00000357039.8:c.549_550del | ENSP00000349543.4:p.Ile183MetfsTer2 | |
| ENST00000520103.5:c.549_550del | ENSP00000428590.1:p.Ile183MetfsTer2 | |
| ENST00000522527.5:c.549_550del | ENSP00000428638.1:p.Ile183MetfsTer2 | |
| NM_000318.3:c.549_550del MANE Select | NP_000309.2:p.Ile183MetfsTer2 | |
| NM_001079867.2:c.549_550del | NP_001073336.2:p.Ile183MetfsTer2 | |
| NM_001172086.2:c.549_550del | NP_001165557.2:p.Ile183MetfsTer2 | |
| NM_001172087.2:c.549_550del | NP_001165558.2:p.Ile183MetfsTer2 |