Linked Data
ClinVar Variation Id:
996178
dbSNP Id:
rs746626039
ExAC:
17:45363717 CAG / C
gnomAD v2:
17-45363717-CAG-C
gnomAD v3:
17-47286351-CAG-C
gnomAD v4:
17-47286351-CAG-C
ERepo:
CA8623029/MONDO:0010119/011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47286354_47286355del , CM000679.2:g.47286354_47286355del | GRCh38 |
| NC_000017.10:g.45363720_45363721del , CM000679.1:g.45363720_45363721del | GRCh37 |
| NC_000017.9:g.42718719_42718720del | NCBI36 |
| NG_008332.2:g.37513_37514del , LRG_481:g.37513_37514del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.709_710del | ENSP00000513002.1:p.Ser237CysfsTer13 | |
| ENST00000559488.7:c.709_710del MANE Select | ENSP00000452786.2:p.Ser237CysfsTer13 | |
| ENST00000559488.5:c.709_710del | ENSP00000452786.1:p.Ser237CysfsTer13 | |
| ENST00000560629.1:c.674_675del | ||
| ENST00000571680.1:c.709_710del | ENSP00000461626.1:p.Ser237CysfsTer13 | |
| NM_000212.2:c.709_710del , LRG_481t1:c.709_710del | NP_000203.2:p.Ser237CysfsTer13 | |
| NM_000212.3:c.709_710del MANE Select | NP_000203.2:p.Ser237CysfsTer13 |