Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21174591_21174597delinsATTGTAT , CM000674.2:g.21174591_21174597delinsATTGTAT | GRCh38 |
| NC_000012.11:g.21327525_21327531delinsATTGTAT , CM000674.1:g.21327525_21327531delinsATTGTAT | GRCh37 |
| NC_000012.10:g.21218792_21218798delinsATTGTAT | NCBI36 |
| NG_011745.1:g.48398_48404delinsATTGTAT , LRG_1022:g.48398_48404delinsATTGTAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256958.3:c.241_247delinsATTGTAT MANE Select | ENSP00000256958.2:p.Ile81= | |
| ENST00000256958.2:c.241_247delinsATTGTAT | ENSP00000256958.2:p.Ile81= | |
| ENST00000543498.5:c.426-2185_426-2179delinsATTGTAT | ||
| NM_006446.4:c.241_247delinsATTGTAT , LRG_1022t1:c.241_247delinsATTGTAT | NP_006437.3:p.Ile81= | |
| NM_006446.5:c.241_247delinsATTGTAT MANE Select | NP_006437.3:p.Ile81= |