Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586572_41586573delinsTA , CM000679.2:g.41586572_41586573delinsTA | GRCh38 |
| NC_000017.10:g.39742824_39742825delinsTA , CM000679.1:g.39742824_39742825delinsTA | GRCh37 |
| NC_000017.9:g.36996350_36996351delinsTA | NCBI36 |
| NG_008624.1:g.5323_5324delinsTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.262_263delinsTA MANE Select | ENSP00000167586.6:p.Tyr88= | |
| ENST00000167586.6:c.262_263delinsTA | ENSP00000167586.6:p.Tyr88= | |
| NM_000526.4:c.262_263delinsTA | NP_000517.2:p.Tyr88= | |
| NM_000526.5:c.262_263delinsTA MANE Select | NP_000517.3:p.Tyr88= |