Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461930_122461932delinsCC , CM000672.2:g.122461930_122461932delinsCC | GRCh38 |
| NC_000010.10:g.124221446_124221448delinsCC , CM000672.1:g.124221446_124221448delinsCC | GRCh37 |
| NC_000010.9:g.124211436_124211438delinsCC | NCBI36 |
| NG_011554.1:g.5406_5408delinsCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.278_280delinsCC MANE Select | ENSP00000357980.3:p.Phe93SerfsTer? | |
| ENST00000648167.1:c.154+3221_154+3223delinsCC | ENSP00000498033.1:n.154+3221_154+3223delinsCC | |
| ENST00000368984.7:c.278_280delinsCC | ENSP00000357980.3:p.Phe93SerfsTer? | |
| NM_002775.4:c.278_280delinsCC | NP_002766.1:p.Phe93SerfsTer? | |
| NM_002775.5:c.278_280delinsCC MANE Select | NP_002766.1:p.Phe93SerfsTer? |