Linked Data
ClinVar Variation Id:
953063
ClinVar RCV Id:
RCV001225301
dbSNP Id:
rs753932639
ExAC:
17:45360777 TG / T
gnomAD v2:
17-45360777-TG-T
ERepo:
CA8622899/MONDO:0010119/011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47283412del , CM000679.2:g.47283412del | GRCh38 |
| NC_000017.10:g.45360778del , CM000679.1:g.45360778del | GRCh37 |
| NC_000017.9:g.42715777del | NCBI36 |
| NG_008332.2:g.34571del , LRG_481:g.34571del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.224del | ENSP00000513002.1:p.Cys75LeufsTer10 | |
| ENST00000559488.7:c.224del MANE Select | ENSP00000452786.2:p.Cys75LeufsTer10 | |
| ENST00000559488.5:c.224del | ENSP00000452786.1:p.Cys75LeufsTer10 | |
| ENST00000560629.1:c.189del | ||
| ENST00000571680.1:c.224del | ENSP00000461626.1:p.Cys75LeufsTer10 | |
| NM_000212.2:c.224del , LRG_481t1:c.224del | NP_000203.2:p.Cys75LeufsTer10 | |
| NM_000212.3:c.224del MANE Select | NP_000203.2:p.Cys75LeufsTer10 |