Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81705485del , CM000665.2:g.81705485del | GRCh38 |
| NC_000003.11:g.81754636del , CM000665.1:g.81754636del | GRCh37 |
| NC_000003.10:g.81837326del | NCBI36 |
| NG_011810.1:g.61318del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.274del MANE Select | ENSP00000410833.2:p.Ala92ProfsTer? | |
| ENST00000429644.6:c.274del | ENSP00000410833.2:p.Ala92ProfsTer? | |
| ENST00000489715.1:c.151del | ENSP00000419638.1:p.Ala51ProfsTer? | |
| NM_000158.3:c.274del | NP_000149.3:p.Ala92ProfsTer? | |
| NM_000158.4:c.274del MANE Select | NP_000149.4:p.Ala92ProfsTer? |