Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76346071_76346079del , CM000674.2:g.76346071_76346079del | GRCh38 |
| NC_000012.11:g.76739851_76739859del , CM000674.1:g.76739851_76739859del | GRCh37 |
| NC_000012.10:g.75263982_75263990del | NCBI36 |
| NG_016357.1:g.7365_7373del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650064.2:c.1907_1915del MANE Select | ENSP00000497413.1:p.Ala636_Leu638del | |
| ENST00000393262.3:c.1907_1915del | ENSP00000376946.3:p.Ala636_Leu638del | |
| NM_024685.3:c.1907_1915del | NP_078961.3:p.Ala636_Leu638del | |
| NM_024685.4:c.1907_1915del MANE Select | NP_078961.3:p.Ala636_Leu638del |