Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76346796_76346797del , CM000674.2:g.76346796_76346797del | GRCh38 |
| NC_000012.11:g.76740576_76740577del , CM000674.1:g.76740576_76740577del | GRCh37 |
| NC_000012.10:g.75264707_75264708del | NCBI36 |
| NG_016357.1:g.6648_6649del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650064.2:c.1190_1191del MANE Select | ENSP00000497413.1:p.Ile397SerfsTer11 | |
| ENST00000393262.3:c.1190_1191del | ENSP00000376946.3:p.Ile397SerfsTer11 | |
| NM_024685.3:c.1190_1191del | NP_078961.3:p.Ile397SerfsTer11 | |
| NM_024685.4:c.1190_1191del MANE Select | NP_078961.3:p.Ile397SerfsTer11 |