Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68231615_68231616delinsAA , CM000672.2:g.68231615_68231616delinsAA | GRCh38 |
| NC_000010.10:g.69991372_69991373delinsAA , CM000672.1:g.69991372_69991373delinsAA | GRCh37 |
| NC_000010.9:g.69661378_69661379delinsAA | NCBI36 |
| NG_031934.1:g.5498_5499delinsTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373673.5:c.62_63delinsTT MANE Select | ENSP00000362777.3:p.Gly21Val | |
| ENST00000373673.4:c.62_63delinsTT | ENSP00000362777.3:p.Gly21Val | |
| NM_145178.3:c.62_63delinsTT | NP_660161.1:p.Gly21Val | |
| NM_145178.4:c.62_63delinsTT MANE Select | NP_660161.1:p.Gly21Val |