Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129532624_129532627delinsTCTG , CM000665.2:g.129532624_129532627delinsTCTG | GRCh38 |
| NC_000003.11:g.129251467_129251470delinsTCTG , CM000665.1:g.129251467_129251470delinsTCTG | GRCh37 |
| NC_000003.10:g.130734157_130734160delinsTCTG | NCBI36 |
| NG_009115.1:g.8986_8989delinsTCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.788_791delinsTCTG MANE Select | ENSP00000296271.3:p.Ile263= | |
| ENST00000296271.3:c.788_791delinsTCTG | ENSP00000296271.3:p.Ile263= | |
| NM_000539.3:c.788_791delinsTCTG MANE Select | NP_000530.1:p.Ile263= |