Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320802_119320810delinsATTGTCATG , CM000666.2:g.119320802_119320810delinsATTGTCATG | GRCh38 |
| NC_000004.11:g.120241957_120241965delinsATTGTCATG , CM000666.1:g.120241957_120241965delinsATTGTCATG | GRCh37 |
| NC_000004.10:g.120461405_120461413delinsATTGTCATG | NCBI36 |
| NG_011444.1:g.6352_6360delinsCATGACAAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274024.4:c.100_108delinsCATGACAAT MANE Select | ENSP00000274024.3:p.His34= | |
| ENST00000274024.3:c.100_108delinsCATGACAAT | ENSP00000274024.3:p.His34= | |
| NM_000134.3:c.100_108delinsCATGACAAT | NP_000125.2:p.His34= | |
| NM_000134.4:c.100_108delinsCATGACAAT MANE Select | NP_000125.2:p.His34= |