Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21312438_21312442delinsGGAGA , CM000676.2:g.21312438_21312442delinsGGAGA | GRCh38 |
| NC_000014.8:g.21780597_21780601delinsGGAGA , CM000676.1:g.21780597_21780601delinsGGAGA | GRCh37 |
| NC_000014.7:g.20850437_20850441delinsGGAGA | NCBI36 |
| NG_008933.1:g.29462_29466delinsGGAGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.1083_1087delinsGGAGA MANE Select | ENSP00000382895.2:p.Gln361= | |
| ENST00000400017.6:c.1083_1087delinsGGAGA | ENSP00000382895.2:p.Gln361= | |
| ENST00000556336.5:c.1002_1006delinsGGAGA | ENSP00000450445.1:p.Gln334= | |
| ENST00000557771.5:c.1002_1006delinsGGAGA | ENSP00000451219.1:p.Gln334= | |
| NM_020366.3:c.1083_1087delinsGGAGA | NP_065099.3:p.Gln361= | |
| XM_011536983.1:c.1050_1054delinsGGAGA | XP_011535285.1:p.Gln350= | |
| NM_020366.4:c.1083_1087delinsGGAGA MANE Select | NP_065099.3:p.Gln361= |