Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100882899_100882902delinsCTGT , CM000676.2:g.100882899_100882902delinsCTGT | GRCh38 |
| NC_000014.8:g.101349236_101349239delinsCTGT , CM000676.1:g.101349236_101349239delinsCTGT | GRCh37 |
| NC_000014.7:g.100418989_100418992delinsCTGT | NCBI36 |
| NG_045001.1:g.6946_6949delinsACAG | |
| NG_045000.5:g.51631_51634delinsCTGT | |
| NG_045000.6:g.51631_51634delinsCTGT | |
| NG_045001.2:g.25821_25824delinsACAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649591.1:c.1887_1890delinsACAG MANE Select | ENSP00000497482.1:p.Leu629= | |
| ENST00000534062.1:c.1887_1890delinsACAG | ENSP00000435342.1:p.Leu629= | |
| NM_001134888.2:c.1887_1890delinsACAG | NP_001128360.1:p.Leu629= | |
| NM_001134888.3:c.1887_1890delinsACAG MANE Select | NP_001128360.1:p.Leu629= |