Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990401_45990408del , CM000683.2:g.45990401_45990408del | GRCh38 |
| NC_000021.8:g.47410315_47410322del , CM000683.1:g.47410315_47410322del | GRCh37 |
| NC_000021.7:g.46234743_46234750del | NCBI36 |
| NG_008674.1:g.13653_13660del , LRG_475:g.13653_13660del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.981_988del MANE Select | ENSP00000355180.3:p.Asp328GlyfsTer22 | |
| ENST00000361866.7:c.981_988del | ENSP00000355180.3:p.Asp328GlyfsTer22 | |
| ENST00000612273.1:c.981_988del | ENSP00000483630.1:p.Asp328GlyfsTer22 | |
| NM_001848.2:c.981_988del , LRG_475t1:c.981_988del | NP_001839.2:p.Asp328GlyfsTer22 | |
| NM_001848.3:c.981_988del MANE Select | NP_001839.2:p.Asp328GlyfsTer22 |