Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431603del , CM000663.2:g.229431603del | GRCh38 |
| NC_000001.10:g.229567350del , CM000663.1:g.229567350del | GRCh37 |
| NC_000001.9:g.227633973del | NCBI36 |
| NG_006672.1:g.7495del , LRG_429:g.7495del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.991-38del | ENSP00000355644.4:n.991-38del | |
| ENST00000684723.1:c.896del | ENSP00000508084.1:p.Gly299AlafsTer? | |
| ENST00000366683.3:c.662del | ENSP00000355644.3:p.Gly221AlafsTer? | |
| ENST00000366684.7:c.1031del MANE Select | ENSP00000355645.3:p.Gly344AlafsTer? | |
| NM_001100.3:c.1031del , LRG_429t1:c.1031del | NP_001091.1:p.Gly344AlafsTer? | |
| NM_001100.4:c.1031del MANE Select | NP_001091.1:p.Gly344AlafsTer? |