Linked Data
gnomAD v4:
1-229432311-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432312del , CM000663.2:g.229432312del | GRCh38 |
| NC_000001.10:g.229568059del , CM000663.1:g.229568059del | GRCh37 |
| NC_000001.9:g.227634682del | NCBI36 |
| NG_006672.1:g.6785del , LRG_429:g.6785del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.574del | ENSP00000355644.4:p.Met192Ter | |
| ENST00000684723.1:c.439del | ENSP00000508084.1:p.Met147Ter | |
| ENST00000366683.3:c.479+95del | ENSP00000355644.3:n.479+95del | |
| ENST00000366684.7:c.574del MANE Select | ENSP00000355645.3:p.Met192Ter | |
| NM_001100.3:c.574del , LRG_429t1:c.574del | NP_001091.1:p.Met192Ter | |
| NM_001100.4:c.574del MANE Select | NP_001091.1:p.Met192Ter |