Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70175158_70175161delinsGACA , CM000679.2:g.70175158_70175161delinsGACA | GRCh38 |
| NC_000017.10:g.68171299_68171302delinsGACA , CM000679.1:g.68171299_68171302delinsGACA | GRCh37 |
| NC_000017.9:g.65682894_65682897delinsGACA | NCBI36 |
| NG_008798.1:g.10624_10627delinsGACA , LRG_328:g.10624_10627delinsGACA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000243457.4:c.119_122delinsGACA MANE Select | ENSP00000243457.2:p.Arg40= | |
| ENST00000243457.3:c.119_122delinsGACA | ENSP00000243457.2:p.Arg40= | |
| ENST00000535240.1:c.119_122delinsGACA | ENSP00000441848.1:p.Arg40= | |
| NM_000891.2:c.119_122delinsGACA , LRG_328t1:c.119_122delinsGACA | NP_000882.1:p.Arg40= | |
| XM_011524779.1:c.119_122delinsGACA | XP_011523081.1:p.Arg40= | |
| NM_000891.3:c.119_122delinsGACA MANE Select | NP_000882.1:p.Arg40= |