Linked Data
gnomAD v4:
3-8745982-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745986del , CM000665.2:g.8745986del | GRCh38 |
| NC_000003.11:g.8787672del , CM000665.1:g.8787672del | GRCh37 |
| NC_000003.10:g.8762672del | NCBI36 |
| NG_008797.2:g.17177del , LRG_329:g.17177del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343849.3:c.*119del MANE Select | ENSP00000341940.2:n.*119del | |
| ENST00000343849.2:c.*119del | ENSP00000341940.2:n.*119del | |
| ENST00000397368.2:c.*23del | ENSP00000380525.2:n.*23del | |
| ENST00000472766.1:n.155+11996del | ||
| NM_001234.4:c.*23del | NP_001225.1:n.*23del | |
| NM_033337.2:c.*119del , LRG_329t1:c.*119del | NP_203123.1:n.*119del | |
| NM_001234.5:c.*23del | NP_001225.1:n.*23del | |
| NM_033337.3:c.*119del MANE Select | NP_203123.1:n.*119del |