Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3082670_3082671delinsGC , CM000682.2:g.3082670_3082671delinsGC | GRCh38 |
| NC_000020.10:g.3063316_3063317delinsGC , CM000682.1:g.3063316_3063317delinsGC | GRCh37 |
| NC_000020.9:g.3011316_3011317delinsGC | NCBI36 |
| NG_008663.1:g.7054_7055delinsGC , LRG_715:g.7054_7055delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380293.3:c.454_455delinsGC MANE Select | ENSP00000369647.3:p.Ala152= | |
| NM_000490.4:c.454_455delinsGC , LRG_715t1:c.454_455delinsGC | NP_000481.2:p.Ala152= | |
| XM_011529267.1:c.454_455delinsGC | XP_011527569.1:p.Ala152= | |
| XM_011529267.2:c.454_455delinsGC | XP_011527569.1:p.Ala152= | |
| NM_000490.5:c.454_455delinsGC MANE Select | NP_000481.2:p.Ala152= |