Linked Data
dbSNP Id:
rs1331127756
gnomAD v2:
17-76220135-GTGTTTTTT-G
gnomAD v3:
17-78224054-GTGTTTTTT-G
gnomAD v4:
17-78224054-GTGTTTTTT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78224064_78224071del , CM000679.2:g.78224064_78224071del | GRCh38 |
| NC_000017.10:g.76220145_76220152del , CM000679.1:g.76220145_76220152del | GRCh37 |
| NC_000017.9:g.73731740_73731747del | NCBI36 |
| NG_029069.1:g.14869_14876del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350051.8:c.*510_*517del MANE Select | ENSP00000324180.4:n.*510_*517del | |
| ENST00000301633.8:c.*510_*517del | ENSP00000301633.3:n.*510_*517del | |
| ENST00000350051.7:c.*510_*517del | ENSP00000324180.4:n.*510_*517del | |
| ENST00000374948.6:c.*407_*414del | ENSP00000364086.1:n.*407_*414del | |
| NM_001012270.1:c.*407_*414del | NP_001012270.1:n.*407_*414del | |
| NM_001012271.1:c.*510_*517del | NP_001012271.1:n.*510_*517del | |
| NM_001168.2:c.*510_*517del | NP_001159.2:n.*510_*517del | |
| XR_243654.3:n.1141_1148del | ||
| XR_934452.1:n.1210_1217del | ||
| XR_243654.5:n.1141_1148del | ||
| XR_934452.3:n.1210_1217del | ||
| NM_001168.3:c.*510_*517del MANE Select | NP_001159.2:n.*510_*517del | |
| NM_001012270.2:c.*407_*414del | NP_001012270.1:n.*407_*414del | |
| NM_001012271.2:c.*510_*517del | NP_001012271.1:n.*510_*517del |