Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044973_5044974del , CM000674.2:g.5044973_5044974del | GRCh38 |
| NC_000012.11:g.5154139_5154140del , CM000674.1:g.5154139_5154140del | GRCh37 |
| NC_000012.10:g.5024400_5024401del | NCBI36 |
| NG_012198.1:g.6055_6056del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.826_827del MANE Select | ENSP00000252321.3:p.Arg276GlyfsTer2 | |
| ENST00000252321.4:c.826_827del | ENSP00000252321.3:p.Arg276GlyfsTer2 | |
| NM_002234.3:c.826_827del | NP_002225.2:p.Arg276GlyfsTer2 | |
| NM_002234.4:c.826_827del MANE Select | NP_002225.2:p.Arg276GlyfsTer2 |