Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586449_41586452delinsTAGG , CM000679.2:g.41586449_41586452delinsTAGG | GRCh38 |
| NC_000017.10:g.39742701_39742704delinsTAGG , CM000679.1:g.39742701_39742704delinsTAGG | GRCh37 |
| NC_000017.9:g.36996227_36996230delinsTAGG | NCBI36 |
| NG_008624.1:g.5444_5447delinsCCTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.383_386delinsCCTA MANE Select | ENSP00000167586.6:p.Ser128= | |
| ENST00000167586.6:c.383_386delinsCCTA | ENSP00000167586.6:p.Ser128= | |
| NM_000526.4:c.383_386delinsCCTA | NP_000517.2:p.Ser128= | |
| NM_000526.5:c.383_386delinsCCTA MANE Select | NP_000517.3:p.Ser128= |