Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47332549_47332603del , CM000673.2:g.47332549_47332603del | GRCh38 |
| NC_000011.9:g.47354100_47354154del , CM000673.1:g.47354100_47354154del | GRCh37 |
| NC_000011.8:g.47310676_47310730del | NCBI36 |
| NG_007667.1:g.25103_25157del , LRG_386:g.25103_25157del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.3593_3627+20del | ||
| ENST00000256993.8:c.3593_3627+20del | ||
| ENST00000399249.6:c.3593_3627+20del | ||
| ENST00000545968.5:c.3593_3627+20del | ||
| NM_000256.3:c.3593_3627+20del , LRG_386t1:c.3593_3627+20del | ||
| XM_011520117.1:c.3575_3609+20del | ||
| XM_011520118.1:c.3512_3546+20del |