Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117479167_117479170del , CM000669.2:g.117479167_117479170del | GRCh38 |
| NC_000007.13:g.117119221_117119224del , CM000669.1:g.117119221_117119224del | GRCh37 |
| NC_000007.12:g.116906457_116906460del | NCBI36 |
| NG_016465.4:g.18384_18387del , LRG_663:g.18384_18387del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446805.2:c.-525-77_-525-74del | ENSP00000417012.1:n.-525-77_-525-74del | |
| ENST00000673785.1:c.-406+13336_-406+13339del | ENSP00000501235.1:n.-406+13336_-406+13339del | |
| ENST00000546407.1:n.166+3359_166+3362del | ||
| XM_011515751.1:c.42-77_42-74del | XP_011514053.1:n.42-77_42-74del | |
| XM_011515752.1:c.42-77_42-74del | XP_011514054.1:n.42-77_42-74del | |
| XM_011515754.1:c.-930_-927del | XP_011514056.1:n.-930_-927del |