Linked Data
dbSNP Id:
rs775748394
ExAC:
17:76219871 CT / C
gnomAD v2:
17-76219871-CT-C
gnomAD v4:
17-78223790-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78223796del , CM000679.2:g.78223796del | GRCh38 |
| NC_000017.10:g.76219877del , CM000679.1:g.76219877del | GRCh37 |
| NC_000017.9:g.73731472del | NCBI36 |
| NG_029069.1:g.14601del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350051.8:c.*242del MANE Select | ENSP00000324180.4:n.*242del | |
| ENST00000301633.8:c.*242del | ENSP00000301633.3:n.*242del | |
| ENST00000350051.7:c.*242del | ENSP00000324180.4:n.*242del | |
| ENST00000374948.6:c.*139del | ENSP00000364086.1:n.*139del | |
| ENST00000589892.1:n.687del | ||
| NM_001012270.1:c.*139del | NP_001012270.1:n.*139del | |
| NM_001012271.1:c.*242del | NP_001012271.1:n.*242del | |
| NM_001168.2:c.*242del | NP_001159.2:n.*242del | |
| XR_243654.3:n.873del | ||
| XR_934452.1:n.942del | ||
| XR_243654.5:n.873del | ||
| XR_934452.3:n.942del | ||
| NM_001168.3:c.*242del MANE Select | NP_001159.2:n.*242del | |
| NM_001012270.2:c.*139del | NP_001012270.1:n.*139del | |
| NM_001012271.2:c.*242del | NP_001012271.1:n.*242del |