Linked Data
dbSNP Id:
rs760117822
ExAC:
20:61981717 AG / A
gnomAD v2:
20-61981717-AG-A
gnomAD v4:
20-63350365-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63350367del , CM000682.2:g.63350367del | GRCh38 |
| NC_000020.10:g.61981719del , CM000682.1:g.61981719del | GRCh37 |
| NC_000020.9:g.61452163del | NCBI36 |
| NG_011931.1:g.15978del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.1045del MANE Select | ENSP00000359285.4:p.Leu349TrpfsTer10 | |
| ENST00000370263.8:c.1045del | ENSP00000359285.4:p.Leu349TrpfsTer10 | |
| ENST00000463705.5:n.1693del | ||
| ENST00000467563.3:n.1115del | ||
| ENST00000498043.6:c.1069del | ||
| ENST00000615287.4:c.832del | ENSP00000483388.1:p.Leu278TrpfsTer10 | |
| ENST00000627000.1:c.*734del | ENSP00000486914.1:n.*734del | |
| ENST00000630240.1:n.766del | ||
| NM_000744.6:c.1045del | NP_000735.1:p.Leu349TrpfsTer10 | |
| NM_001256573.1:c.517del | NP_001243502.1:p.Leu173TrpfsTer10 | |
| NR_046317.1:n.1301del | ||
| XM_011528524.1:c.832del | XP_011526826.1:p.Leu278TrpfsTer10 | |
| XM_017027625.2:c.517del | XP_016883114.1:p.Leu173TrpfsTer10 | |
| XM_024451822.1:c.517del | XP_024307590.1:p.Leu173TrpfsTer10 | |
| NM_001256573.2:c.517del | NP_001243502.1:p.Leu173TrpfsTer10 | |
| NR_046317.2:n.1254del | ||
| NM_000744.7:c.1045del MANE Select | NP_000735.1:p.Leu349TrpfsTer10 |