Linked Data
dbSNP Id:
rs779092895
ExAC:
11:36614968 CTG / C
gnomAD v2:
11-36614968-CTG-C
gnomAD v3:
11-36593418-CTG-C
gnomAD v4:
11-36593418-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36593421_36593422del , CM000673.2:g.36593421_36593422del | GRCh38 |
| NC_000011.9:g.36614971_36614972del , CM000673.1:g.36614971_36614972del | GRCh37 |
| NC_000011.8:g.36571547_36571548del | NCBI36 |
| NG_007573.1:g.9817_9818del , LRG_99:g.9817_9818del | |
| NG_033154.1:g.3929_3930del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527033.6:c.749_750del | ENSP00000436895.2:p.Thr250SerfsTer17 | |
| ENST00000529083.2:c.749_750del | ENSP00000436327.2:p.Thr250SerfsTer17 | |
| ENST00000532616.2:c.749_750del | ENSP00000432174.2:p.Thr250SerfsTer17 | |
| ENST00000311485.8:c.749_750del MANE Select | ENSP00000308620.4:p.Thr250SerfsTer17 | |
| ENST00000311485.7:c.749_750del | ENSP00000308620.3:p.Thr250SerfsTer17 | |
| ENST00000524423.1:n.131+4682_131+4683del | ||
| ENST00000618712.4:c.749_750del | ENSP00000478672.1:p.Thr250SerfsTer17 | |
| NM_000536.3:c.749_750del | NP_000527.2:p.Thr250SerfsTer17 | |
| NM_001243785.1:c.749_750del | NP_001230714.1:p.Thr250SerfsTer17 | |
| NM_001243786.1:c.749_750del | NP_001230715.1:p.Thr250SerfsTer17 | |
| NM_000536.4:c.749_750del MANE Select | NP_000527.2:p.Thr250SerfsTer17 | |
| NM_001243785.2:c.749_750del | NP_001230714.1:p.Thr250SerfsTer17 | |
| NM_001243786.2:c.749_750del | NP_001230715.1:p.Thr250SerfsTer17 |