Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50910932_50910934delinsAAG , CM000685.2:g.50910932_50910934delinsAAG | GRCh38 |
| NC_000023.10:g.50653932_50653934delinsAAG , CM000685.1:g.50653932_50653934delinsAAG | GRCh37 |
| NC_000023.9:g.50670672_50670674delinsAAG | NCBI36 |
| NG_012894.1:g.5149_5151delinsAAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252677.4:c.149_151delinsAAG MANE Select | ENSP00000252677.3:p.Glu50= | |
| ENST00000252677.3:c.149_151delinsAAG | ENSP00000252677.3:p.Glu50= | |
| NM_005448.2:c.149_151delinsAAG MANE Select | NP_005439.2:p.Glu50= |