Linked Data
dbSNP Id:
rs748013933
ExAC:
17:17924586 CAG / C
gnomAD v3:
17-18021272-CAG-C
gnomAD v4:
17-18021272-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18021273_18021274del , CM000679.2:g.18021273_18021274del | GRCh38 |
| NC_000017.10:g.17924587_17924588del , CM000679.1:g.17924587_17924588del | GRCh37 |
| NC_000017.9:g.17865312_17865313del | NCBI36 |
| NG_012824.1:g.22893_22894del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474627.8:c.617-36_617-35del MANE Select | ENSP00000417190.2:n.617-36_617-35del | |
| ENST00000462733.5:c.*34-36_*34-35del | ENSP00000463920.1:n.*34-36_*34-35del | |
| ENST00000465337.2:n.440_441del | ||
| ENST00000469327.5:n.527-36_527-35del | ||
| ENST00000474627.7:c.617-36_617-35del | ENSP00000417190.2:n.617-36_617-35del | |
| ENST00000488753.1:n.412-36_412-35del | ||
| ENST00000496852.5:n.1122-36_1122-35del | ||
| ENST00000581698.1:c.49-2588_49-2587del | ||
| ENST00000584205.5:c.*33+3350_*33+3351del | ENSP00000462899.1:n.*33+3350_*33+3351del | |
| ENST00000585101.5:c.*33+3350_*33+3351del | ENSP00000463861.1:n.*33+3350_*33+3351del | |
| NM_145691.3:c.617-36_617-35del | NP_663729.1:n.617-36_617-35del | |
| XM_005256848.2:c.617-36_617-35del | XP_005256905.1:n.617-36_617-35del | |
| XM_011524062.1:c.617-36_617-35del | XP_011522364.1:n.617-36_617-35del | |
| XM_011524063.1:c.617-36_617-35del | XP_011522365.1:n.617-36_617-35del | |
| XM_011524064.1:c.317-36_317-35del | XP_011522366.1:n.317-36_317-35del | |
| XM_011524065.1:c.617-36_617-35del | XP_011522367.1:n.617-36_617-35del | |
| XM_011524066.1:c.80-36_80-35del | XP_011522368.1:n.80-36_80-35del | |
| XR_934116.1:n.1015-36_1015-35del | ||
| XM_005256848.4:c.617-36_617-35del | XP_005256905.1:n.617-36_617-35del | |
| XM_011524065.2:c.617-36_617-35del | XP_011522367.1:n.617-36_617-35del | |
| XM_017025302.1:c.317-36_317-35del | XP_016880791.1:n.317-36_317-35del | |
| XM_017025303.1:c.317-36_317-35del | XP_016880792.1:n.317-36_317-35del | |
| XR_001752677.2:n.1014-36_1014-35del | ||
| NM_145691.4:c.617-36_617-35del MANE Select | NP_663729.1:n.617-36_617-35del |