Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42184659_42184662delinsTCTC , CM000679.2:g.42184659_42184662delinsTCTC | GRCh38 |
| NC_000017.10:g.40336677_40336680delinsTCTC , CM000679.1:g.40336677_40336680delinsTCTC | GRCh37 |
| NC_000017.9:g.37590203_37590206delinsTCTC | NCBI36 |
| NG_011448.1:g.5791_5794delinsGAGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293330.1:c.22-134_22-131delinsGAGA MANE Select | ENSP00000293330.1:n.22-134_22-131delinsGAGA | |
| NM_001524.1:c.22-134_22-131delinsGAGA MANE Select | NP_001515.1:n.22-134_22-131delinsGAGA |