Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45984383_45984384del , CM000683.2:g.45984383_45984384del | GRCh38 |
| NC_000021.8:g.47404297_47404298del , CM000683.1:g.47404297_47404298del | GRCh37 |
| NC_000021.7:g.46228725_46228726del | NCBI36 |
| NG_008674.1:g.7635_7636del , LRG_475:g.7635_7636del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.342_343del MANE Select | ENSP00000355180.3:p.Ser115GlnfsTer? | |
| ENST00000361866.7:c.342_343del | ENSP00000355180.3:p.Ser115GlnfsTer? | |
| ENST00000612273.1:c.342_343del | ENSP00000483630.1:p.Ser115GlnfsTer? | |
| NM_001848.2:c.342_343del , LRG_475t1:c.342_343del | NP_001839.2:p.Ser115GlnfsTer? | |
| NM_001848.3:c.342_343del MANE Select | NP_001839.2:p.Ser115GlnfsTer? |