Linked Data
dbSNP Id:
rs747392267
ExAC:
3:8787359 TG / T
gnomAD v2:
3-8787359-TG-T
gnomAD v4:
3-8745673-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745677del , CM000665.2:g.8745677del | GRCh38 |
| NC_000003.11:g.8787363del , CM000665.1:g.8787363del | GRCh37 |
| NC_000003.10:g.8762363del | NCBI36 |
| NG_008797.2:g.16868del , LRG_329:g.16868del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343849.3:c.266del MANE Select | ENSP00000341940.2:p.Gly89AlafsTer23 | |
| ENST00000343849.2:c.266del | ENSP00000341940.2:p.Gly89AlafsTer23 | |
| ENST00000397368.2:c.266del | ENSP00000380525.2:p.Gly89AlafsTer23 | |
| ENST00000472766.1:n.155+11687del | ||
| NM_001234.4:c.266del | NP_001225.1:p.Gly89AlafsTer23 | |
| NM_033337.2:c.266del , LRG_329t1:c.266del | NP_203123.1:p.Gly89AlafsTer23 | |
| NM_001234.5:c.266del | NP_001225.1:p.Gly89AlafsTer23 | |
| NM_033337.3:c.266del MANE Select | NP_203123.1:p.Gly89AlafsTer23 |