Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117479105del , CM000669.2:g.117479105del | GRCh38 |
| NC_000007.13:g.117119159del , CM000669.1:g.117119159del | GRCh37 |
| NC_000007.12:g.116906395del | NCBI36 |
| NG_016465.4:g.18322del , LRG_663:g.18322del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446805.2:c.-525-139del | ENSP00000417012.1:n.-525-139del | |
| ENST00000673785.1:c.-406+13274del | ENSP00000501235.1:n.-406+13274del | |
| ENST00000546407.1:n.166+3297del | ||
| XM_011515751.1:c.42-139del | XP_011514053.1:n.42-139del | |
| XM_011515752.1:c.42-139del | XP_011514054.1:n.42-139del | |
| XM_011515754.1:c.-992del | XP_011514056.1:n.-992del |