Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965976_37965978del , CM000670.2:g.37965976_37965978del | GRCh38 |
| NC_000008.10:g.37823494_37823496del , CM000670.1:g.37823494_37823496del | GRCh37 |
| NC_000008.9:g.37942651_37942653del | NCBI36 |
| NG_011936.1:g.5690_5692del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000025.3:c.493_495del MANE Select | NP_000016.1:p.Ser165del |
| ENST00000345060.5:c.493_495del MANE Select | ENSP00000343782.3:p.Ser165del |
| NM_000025.2:c.493_495del | NP_000016.1:p.Ser165del |
| ENST00000345060.4:c.493_495del | ENSP00000343782.3:p.Ser165del |
| ENST00000520341.2:n.621_623del | |
| ENST00000614635.1:c.493_495del | ENSP00000480325.1:p.Ser165del |