Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432328del , CM000663.2:g.229432328del | GRCh38 |
| NC_000001.10:g.229568075del , CM000663.1:g.229568075del | GRCh37 |
| NC_000001.9:g.227634698del | NCBI36 |
| NG_006672.1:g.6769del , LRG_429:g.6769del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.558del | ENSP00000355644.4:p.Leu187SerfsTer5 | |
| ENST00000684723.1:c.423del | ENSP00000508084.1:p.Leu142SerfsTer5 | |
| ENST00000366683.3:c.479+79del | ENSP00000355644.3:n.479+79del | |
| ENST00000366684.7:c.558del MANE Select | ENSP00000355645.3:p.Leu187SerfsTer5 | |
| NM_001100.3:c.558del , LRG_429t1:c.558del | NP_001091.1:p.Leu187SerfsTer5 | |
| NM_001100.4:c.558del MANE Select | NP_001091.1:p.Leu187SerfsTer5 |