Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42958158_42958159delinsTG , CM000677.2:g.42958158_42958159delinsTG | GRCh38 |
| NC_000015.9:g.43250356_43250357delinsTG , CM000677.1:g.43250356_43250357delinsTG | GRCh37 |
| NC_000015.8:g.41037648_41037649delinsTG | NCBI36 |
| NG_012182.1:g.152930_152931delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290650.9:c.4758-69_4758-68delinsCA MANE Select | ENSP00000290650.4:n.4758-69_4758-68delinsCA | |
| ENST00000290650.8:c.4758-69_4758-68delinsCA | ENSP00000290650.4:n.4758-69_4758-68delinsCA | |
| NM_174916.2:c.4758-69_4758-68delinsCA | NP_777576.1:n.4758-69_4758-68delinsCA | |
| NM_174916.3:c.4758-69_4758-68delinsCA MANE Select | NP_777576.1:n.4758-69_4758-68delinsCA |