Linked Data
dbSNP Id:
rs369792774
ExAC:
17:76219855 TTCTC / T
gnomAD v2:
17-76219855-TTCTC-T
gnomAD v3:
17-78223774-TTCTC-T
gnomAD v4:
17-78223774-TTCTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78223788_78223791del , CM000679.2:g.78223788_78223791del | GRCh38 |
| NC_000017.10:g.76219869_76219872del , CM000679.1:g.76219869_76219872del | GRCh37 |
| NC_000017.9:g.73731464_73731467del | NCBI36 |
| NG_029069.1:g.14593_14596del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350051.8:c.*234_*237del MANE Select | ENSP00000324180.4:n.*234_*237del | |
| ENST00000301633.8:c.*234_*237del | ENSP00000301633.3:n.*234_*237del | |
| ENST00000350051.7:c.*234_*237del | ENSP00000324180.4:n.*234_*237del | |
| ENST00000374948.6:c.*131_*134del | ENSP00000364086.1:n.*131_*134del | |
| ENST00000589892.1:n.679_682del | ||
| NM_001012270.1:c.*131_*134del | NP_001012270.1:n.*131_*134del | |
| NM_001012271.1:c.*234_*237del | NP_001012271.1:n.*234_*237del | |
| NM_001168.2:c.*234_*237del | NP_001159.2:n.*234_*237del | |
| XR_243654.3:n.865_868del | ||
| XR_934452.1:n.934_937del | ||
| XR_243654.5:n.865_868del | ||
| XR_934452.3:n.934_937del | ||
| NM_001168.3:c.*234_*237del MANE Select | NP_001159.2:n.*234_*237del | |
| NM_001012270.2:c.*131_*134del | NP_001012270.1:n.*131_*134del | |
| NM_001012271.2:c.*234_*237del | NP_001012271.1:n.*234_*237del |