Linked Data
dbSNP Id:
rs1417371545
gnomAD v2:
17-4637776-TAAAAAAC-T
gnomAD v3:
17-4734481-TAAAAAAC-T
gnomAD v4:
17-4734481-TAAAAAAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4734494_4734500del , CM000679.2:g.4734494_4734500del | GRCh38 |
| NC_000017.10:g.4637789_4637795del , CM000679.1:g.4637789_4637795del | GRCh37 |
| NC_000017.9:g.4584538_4584544del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293778.12:c.*24-9_*24-3del MANE Select | ENSP00000293778.7:n.*24-9_*24-3del | |
| ENST00000574412.6:c.*118_*124del | ENSP00000459592.2:n.*118_*124del | |
| ENST00000293778.10:c.*24-9_*24-3del | ENSP00000293778.6:n.*24-9_*24-3del | |
| ENST00000574412.5:c.*118_*124del | ENSP00000459592.1:n.*118_*124del | |
| ENST00000576153.5:n.580-9_580-3del | ||
| NM_022059.3:c.*24-9_*24-3del | NP_071342.2:n.*24-9_*24-3del | |
| NM_022059.4:c.*24-9_*24-3del | NP_071342.2:n.*24-9_*24-3del | |
| NM_001386809.1:c.*24-9_*24-3del MANE Select | NP_001373738.1:n.*24-9_*24-3del |