Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431541del , CM000663.2:g.229431541del | GRCh38 |
| NC_000001.10:g.229567288del , CM000663.1:g.229567288del | GRCh37 |
| NC_000001.9:g.227633911del | NCBI36 |
| NG_006672.1:g.7556del , LRG_429:g.7556del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001100.4:c.1092del MANE Select | NP_001091.1:p.Tyr364Ter |
| ENST00000366684.7:c.1092del MANE Select | ENSP00000355645.3:p.Tyr364Ter |
| NM_001100.3:c.1092del , LRG_429t1:c.1092del | NP_001091.1:p.Tyr364Ter |
| ENST00000366683.3:c.723del | ENSP00000355644.3:p.Tyr241Ter |
| ENST00000366683.4:c.1014del | ENSP00000355644.4:p.Tyr338Ter |
| ENST00000684723.1:c.957del | ENSP00000508084.1:p.Tyr319Ter |