Linked Data
dbSNP Id:
rs1293842923
gnomAD v2:
10-75879132-TG-T
gnomAD v3:
10-74119374-TG-T
gnomAD v4:
10-74119374-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.74119375del , CM000672.2:g.74119375del | GRCh38 |
| NC_000010.10:g.75879133del , CM000672.1:g.75879133del | GRCh37 |
| NC_000010.9:g.75549139del | NCBI36 |
| NG_008868.1:g.126262del , LRG_383:g.126262del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000211998.10:c.*1206del MANE Select | ENSP00000211998.5:n.*1206del | |
| ENST00000211998.8:c.*1206del | ENSP00000211998.4:n.*1206del | |
| ENST00000372755.7:c.*1206del | ENSP00000361841.3:n.*1206del | |
| ENST00000436396.1:c.3627del | ENSP00000415489.1:n.3627del | |
| ENST00000623461.3:n.7210del | ||
| NM_003373.3:c.*1206del | NP_003364.1:n.*1206del | |
| NM_014000.2:c.*1206del , LRG_383t1:c.*1206del | NP_054706.1:n.*1206del | |
| XM_005270142.1:c.*1206del | XP_005270199.1:n.*1206del | |
| XM_005270143.1:c.*1206del | XP_005270200.1:n.*1206del | |
| NM_003373.4:c.*1206del | NP_003364.1:n.*1206del | |
| NM_014000.3:c.*1206del MANE Select | NP_054706.1:n.*1206del |