Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432379del , CM000663.2:g.229432379del | GRCh38 |
| NC_000001.10:g.229568126del , CM000663.1:g.229568126del | GRCh37 |
| NC_000001.9:g.227634749del | NCBI36 |
| NG_006672.1:g.6720del , LRG_429:g.6720del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.509del | ENSP00000355644.4:p.Gly170AlafsTer22 | |
| ENST00000684723.1:c.374del | ENSP00000508084.1:p.Gly125AlafsTer22 | |
| ENST00000366683.3:c.479+30del | ENSP00000355644.3:n.479+30del | |
| ENST00000366684.7:c.509del MANE Select | ENSP00000355645.3:p.Gly170AlafsTer22 | |
| NM_001100.3:c.509del , LRG_429t1:c.509del | NP_001091.1:p.Gly170AlafsTer22 | |
| NM_001100.4:c.509del MANE Select | NP_001091.1:p.Gly170AlafsTer22 |