Linked Data
dbSNP Id:
rs1558326908
gnomAD v2:
1-193220973-TG-T
gnomAD v3:
1-193251843-TG-T
gnomAD v4:
1-193251843-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193251844del , CM000663.2:g.193251844del | GRCh38 |
| NC_000001.10:g.193220974del , CM000663.1:g.193220974del | GRCh37 |
| NC_000001.9:g.191487597del | NCBI36 |
| NG_012691.1:g.134887del , LRG_507:g.134887del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.*1132del MANE Select | ENSP00000356405.4:n.*1132del | |
| ENST00000635846.1:c.*1132del | ENSP00000490035.1:n.*1132del | |
| ENST00000643006.1:c.*1638del | ENSP00000496633.1:n.*1638del | |
| ENST00000367435.3:c.*1132del | ENSP00000356405.3:n.*1132del | |
| NM_024529.4:c.*1132del , LRG_507t1:c.*1132del | NP_078805.3:n.*1132del | |
| NM_024529.5:c.*1132del MANE Select | NP_078805.3:n.*1132del |