Linked Data
dbSNP Id:
rs755837313
ExAC:
11:22646467 GT / G
gnomAD v2:
11-22646467-GT-G
gnomAD v4:
11-22624921-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22624923del , CM000673.2:g.22624923del | GRCh38 |
| NC_000011.9:g.22646469del , CM000673.1:g.22646469del | GRCh37 |
| NC_000011.8:g.22603045del | NCBI36 |
| NG_007425.1:g.5920del , LRG_527:g.5920del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.889del MANE Select | ENSP00000330875.3:p.Thr297LeufsTer25 | |
| ENST00000327470.4:c.889del | ENSP00000330875.3:p.Thr297LeufsTer25 | |
| NM_022725.3:c.889del , LRG_527t1:c.889del | NP_073562.1:p.Thr297LeufsTer25 | |
| NM_022725.4:c.889del MANE Select | NP_073562.1:p.Thr297LeufsTer25 |