Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432574del , CM000663.2:g.229432574del | GRCh38 |
| NC_000001.10:g.229568321del , CM000663.1:g.229568321del | GRCh37 |
| NC_000001.9:g.227634944del | NCBI36 |
| NG_006672.1:g.6523del , LRG_429:g.6523del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001100.4:c.436del MANE Select | NP_001091.1:p.Ala146ProfsTer? |
| ENST00000366684.7:c.436del MANE Select | ENSP00000355645.3:p.Ala146ProfsTer? |
| NM_001100.3:c.436del , LRG_429t1:c.436del | NP_001091.1:p.Ala146ProfsTer? |
| ENST00000366683.3:c.436del | ENSP00000355644.3:p.Ala146ProfsTer17 |
| ENST00000366683.4:c.436del | ENSP00000355644.4:p.Ala146ProfsTer? |
| ENST00000684723.1:c.301del | ENSP00000508084.1:p.Ala101ProfsTer? |