Linked Data
dbSNP Id:
rs769758249
ExAC:
17:62018344 AG / A
gnomAD v2:
17-62018344-AG-A
gnomAD v4:
17-63940984-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63940988del , CM000679.2:g.63940988del | GRCh38 |
| NC_000017.10:g.62018348del , CM000679.1:g.62018348del | GRCh37 |
| NC_000017.9:g.59372080del | NCBI36 |
| NG_011699.1:g.36934del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.5297del MANE Select | ENSP00000396320.1:p.Pro1766LeufsTer11 | |
| ENST00000578147.5:c.5297del | ENSP00000463963.1:p.Pro1766LeufsTer11 | |
| NM_000334.4:c.5297del MANE Select | NP_000325.4:p.Pro1766LeufsTer11 | |
| XM_005257566.3:c.5297del | XP_005257623.1:p.Pro1766LeufsTer11 |