Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965505_37965512dup , CM000670.2:g.37965505_37965512dup | GRCh38 |
| NC_000008.10:g.37823023_37823030dup , CM000670.1:g.37823023_37823030dup | GRCh37 |
| NC_000008.9:g.37942180_37942187dup | NCBI36 |
| NG_011936.1:g.6155_6162dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000025.3:c.958_965dup MANE Select | NP_000016.1:p.Val323ProfsTer3 |
| ENST00000345060.5:c.958_965dup MANE Select | ENSP00000343782.3:p.Val323ProfsTer3 |
| NM_000025.2:c.958_965dup | NP_000016.1:p.Val323ProfsTer3 |
| ENST00000345060.4:c.958_965dup | ENSP00000343782.3:p.Val323ProfsTer3 |
| ENST00000520341.1:n.233_240dup | |
| ENST00000520341.2:n.1086_1093dup | |
| ENST00000614635.1:c.958_965dup | ENSP00000480325.1:p.Val323ProfsTer3 |
| ENST00000647937.1:c.442_449dup | ENSP00000497740.1:p.Val151ProfsTer3 |