Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47302737_47302747del , CM000679.2:g.47302737_47302747del | GRCh38 |
| NC_000017.10:g.45380103_45380113del , CM000679.1:g.45380103_45380113del | GRCh37 |
| NC_000017.9:g.42735102_42735112del | NCBI36 |
| NG_008332.2:g.53896_53906del , LRG_481:g.53896_53906del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000212.3:c.2031_2041del MANE Select | NP_000203.2:p.Asp677GlufsTer4 |
| ENST00000559488.7:c.2031_2041del MANE Select | ENSP00000452786.2:p.Asp677GlufsTer4 |
| NM_000212.2:c.2031_2041del , LRG_481t1:c.2031_2041del | NP_000203.2:p.Asp677GlufsTer4 |
| ENST00000559488.5:c.2031_2041del | ENSP00000452786.1:p.Asp677GlufsTer4 |
| ENST00000560629.1:c.1996_2006del | |
| ENST00000696963.1:c.2031_2041del | ENSP00000513002.1:p.Asp677GlufsTer4 |