Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506984_122506985insA , CM000672.2:g.122506984_122506985insA | GRCh38 |
| NC_000010.10:g.124266500_124266501insA , CM000672.1:g.124266500_124266501insA | GRCh37 |
| NC_000010.9:g.124256490_124256491insA | NCBI36 |
| NG_011554.1:g.50460_50461insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.972+99_972+100insA MANE Select | ENSP00000357980.3:n.972+99_972+100insA | |
| ENST00000648167.1:c.654+99_654+100insA | ENSP00000498033.1:n.654+99_654+100insA | |
| ENST00000368984.7:c.972+99_972+100insA | ENSP00000357980.3:n.972+99_972+100insA | |
| ENST00000420892.1:c.195+99_195+100insA | ENSP00000412676.1:n.195+99_195+100insA | |
| NM_002775.4:c.972+99_972+100insA | NP_002766.1:n.972+99_972+100insA | |
| NM_002775.5:c.972+99_972+100insA MANE Select | NP_002766.1:n.972+99_972+100insA |