Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110911092_110911094del , CM000674.2:g.110911092_110911094del | GRCh38 |
| NC_000012.11:g.111348896_111348898del , CM000674.1:g.111348896_111348898del | GRCh37 |
| NC_000012.10:g.109833279_109833281del | NCBI36 |
| NG_007554.1:g.14485_14487del , LRG_393:g.14485_14487del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.485_487del MANE Select | ENSP00000228841.8:p.Gly162del | |
| ENST00000663220.1:c.428_430del | ENSP00000499568.1:p.Gly143del | |
| ENST00000228841.12:c.485_487del | ENSP00000228841.7:p.Gly162del | |
| ENST00000548438.1:c.443_445del | ENSP00000447154.1:p.Gly148del | |
| NM_000432.3:c.485_487del , LRG_393t1:c.485_487del | NP_000423.2:p.Gly162del | |
| NM_000432.4:c.485_487del MANE Select | NP_000423.2:p.Gly162del |