Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461604_122461605del , CM000672.2:g.122461604_122461605del | GRCh38 |
| NC_000010.10:g.124221120_124221121del , CM000672.1:g.124221120_124221121del | GRCh37 |
| NC_000010.9:g.124211110_124211111del | NCBI36 |
| NG_011554.1:g.5080_5081del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.-49_-48del MANE Select | ENSP00000357980.3:n.-49_-48del | |
| ENST00000648167.1:c.154+2895_154+2896del | ENSP00000498033.1:n.154+2895_154+2896del | |
| ENST00000368984.7:c.-49_-48del | ENSP00000357980.3:n.-49_-48del | |
| NM_002775.4:c.-49_-48del | NP_002766.1:n.-49_-48del | |
| NM_002775.5:c.-49_-48del MANE Select | NP_002766.1:n.-49_-48del |