Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86668096del , CM000670.2:g.86668096del | GRCh38 |
| NC_000008.10:g.87680324del , CM000670.1:g.87680324del | GRCh37 |
| NC_000008.9:g.87749440del | NCBI36 |
| NG_016980.1:g.80581del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320005.6:c.567del MANE Select | ENSP00000316605.5:p.Trp189CysfsTer9 | |
| ENST00000681746.1:c.567del | ENSP00000505959.1:p.Trp189CysfsTer9 | |
| ENST00000320005.5:c.567del | ENSP00000316605.5:p.Trp189CysfsTer9 | |
| NM_019098.4:c.567del | NP_061971.3:p.Trp189CysfsTer9 | |
| XM_011517138.1:c.153del | XP_011515440.1:p.Trp51CysfsTer9 | |
| XM_011517138.2:c.153del | XP_011515440.1:p.Trp51CysfsTer9 | |
| NM_019098.5:c.567del MANE Select | NP_061971.3:p.Trp189CysfsTer9 |