Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149977961_149977979del , CM000667.2:g.149977961_149977979del | GRCh38 |
| NC_000005.9:g.149357524_149357542del , CM000667.1:g.149357524_149357542del | GRCh37 |
| NC_000005.8:g.149337717_149337735del | NCBI36 |
| NG_007147.2:g.19079_19097del , LRG_684:g.19079_19097del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.541_559del | ||
| ENST00000286298.5:c.309_327del MANE Select | ENSP00000286298.4:p.Asp103GlufsTer4 | |
| ENST00000286298.4:c.309_327del | ENSP00000286298.4:p.Asp103GlufsTer4 | |
| NM_000112.3:c.309_327del , LRG_684t1:c.309_327del | NP_000103.2:p.Asp103GlufsTer4 | |
| XM_017009191.2:c.309_327del | XP_016864680.1:p.Asp103GlufsTer4 | |
| NM_000112.4:c.309_327del MANE Select | NP_000103.2:p.Asp103GlufsTer4 |