Linked Data
dbSNP Id:
rs748925552
ExAC:
12:8814648 GTGA / G
gnomAD v2:
12-8814648-GTGA-G
gnomAD v4:
12-8662052-GTGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8662059_8662061del , CM000674.2:g.8662059_8662061del | GRCh38 |
| NC_000012.11:g.8814655_8814657del , CM000674.1:g.8814655_8814657del | GRCh37 |
| NC_000012.10:g.8705922_8705924del | NCBI36 |
| NG_041814.1:g.5834_5836del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359478.7:c.50_52del MANE Select | ENSP00000352455.2:p.Ile17del | |
| ENST00000359478.6:c.50_52del | ENSP00000352455.2:p.Ile17del | |
| ENST00000396549.6:c.50_52del | ENSP00000379798.2:p.Ile17del | |
| ENST00000433590.6:c.50_52del | ENSP00000411997.2:p.Ile17del | |
| ENST00000534833.5:n.101_103del | ||
| ENST00000535336.5:c.50_52del | ENSP00000438525.1:p.Ile17del | |
| ENST00000535411.5:c.19_21del | ||
| ENST00000537009.5:c.50_52del | ENSP00000439289.1:p.Ile17del | |
| ENST00000537128.1:n.314_316del | ||
| ENST00000538107.5:n.314_316del | ||
| ENST00000540087.5:c.50_52del | ENSP00000440496.1:p.Ile17del | |
| ENST00000543369.5:c.50_52del | ENSP00000441492.1:p.Ile17del | |
| ENST00000544211.5:c.50_52del | ENSP00000443839.1:p.Ile17del | |
| ENST00000544889.1:c.50_52del | ENSP00000445799.1:p.Ile17del | |
| NM_001297709.1:c.50_52del | NP_001284638.1:p.Ile17del | |
| NM_001297710.1:c.50_52del | NP_001284639.1:p.Ile17del | |
| NM_001297711.1:c.50_52del | NP_001284640.1:p.Ile17del | |
| NM_001297712.1:c.50_52del | NP_001284641.1:p.Ile17del | |
| NM_003480.3:c.50_52del | NP_003471.1:p.Ile17del | |
| NR_123733.1:n.314_316del | ||
| NR_123734.1:n.314_316del | ||
| NM_003480.4:c.50_52del MANE Select | NP_003471.1:p.Ile17del | |
| NM_001297709.2:c.50_52del | NP_001284638.1:p.Ile17del | |
| NM_001297710.2:c.50_52del | NP_001284639.1:p.Ile17del | |
| NM_001297711.2:c.50_52del | NP_001284640.1:p.Ile17del | |
| NM_001297712.2:c.50_52del | NP_001284641.1:p.Ile17del | |
| NR_123733.2:n.252_254del | ||
| NR_123734.2:n.252_254del |