Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431728_229431730del , CM000663.2:g.229431728_229431730del | GRCh38 |
| NC_000001.10:g.229567475_229567477del , CM000663.1:g.229567475_229567477del | GRCh37 |
| NC_000001.9:g.227634098_227634100del | NCBI36 |
| NG_006672.1:g.7369_7371del , LRG_429:g.7369_7371del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.983_985del | ENSP00000355644.4:p.Lys328del | |
| ENST00000684723.1:c.848_850del | ENSP00000508084.1:p.Lys283del | |
| ENST00000366683.3:c.614_616del | ENSP00000355644.3:p.Lys205del | |
| ENST00000366684.7:c.983_985del MANE Select | ENSP00000355645.3:p.Lys328del | |
| NM_001100.3:c.983_985del , LRG_429t1:c.983_985del | NP_001091.1:p.Lys328del | |
| NM_001100.4:c.983_985del MANE Select | NP_001091.1:p.Lys328del |