Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461762_122461763delinsGC , CM000672.2:g.122461762_122461763delinsGC | GRCh38 |
| NC_000010.10:g.124221278_124221279delinsGC , CM000672.1:g.124221278_124221279delinsGC | GRCh37 |
| NC_000010.9:g.124211268_124211269delinsGC | NCBI36 |
| NG_011554.1:g.5238_5239delinsGC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368984.8:c.110_111delinsGC MANE Select | ENSP00000357980.3:p.Cys37= | |
| ENST00000648167.1:c.154+3053_154+3054delinsGC | ENSP00000498033.1:n.154+3053_154+3054deli... | |
| ENST00000368984.7:c.110_111delinsGC | ENSP00000357980.3:p.Cys37= | |
| NM_002775.4:c.110_111delinsGC | NP_002766.1:p.Cys37= | |
| NM_002775.5:c.110_111delinsGC MANE Select | NP_002766.1:p.Cys37= |