Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45984356_45984390del , CM000683.2:g.45984356_45984390del | GRCh38 |
| NC_000021.8:g.47404270_47404304del , CM000683.1:g.47404270_47404304del | GRCh37 |
| NC_000021.7:g.46228698_46228732del | NCBI36 |
| NG_008674.1:g.7608_7642del , LRG_475:g.7608_7642del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001848.3:c.315_349del MANE Select | NP_001839.2:p.Met106GlyfsTer? |
| ENST00000361866.8:c.315_349del MANE Select | ENSP00000355180.3:p.Met106GlyfsTer? |
| NM_001848.2:c.315_349del , LRG_475t1:c.315_349del | NP_001839.2:p.Met106GlyfsTer? |
| ENST00000361866.7:c.315_349del | ENSP00000355180.3:p.Met106GlyfsTer? |
| ENST00000612273.1:c.315_349del | ENSP00000483630.1:p.Met106GlyfsTer? |