Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46010947_46010948delinsCG , CM000682.2:g.46010947_46010948delinsCG | GRCh38 |
| NC_000020.10:g.44639586_44639587delinsCG , CM000682.1:g.44639586_44639587delinsCG | GRCh37 |
| NC_000020.9:g.44072993_44072994delinsCG | NCBI36 |
| NG_011468.1:g.7040_7041delinsCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.546_547delinsCG MANE Select | ENSP00000361405.3:p.Asp182= | |
| NM_004994.2:c.546_547delinsCG | NP_004985.2:p.Asp182= | |
| NM_004994.3:c.546_547delinsCG MANE Select | NP_004985.2:p.Asp182= |