Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94989000_94989007delinsTCTACCAG , CM000672.2:g.94989000_94989007delinsTCTACCAG | GRCh38 |
| NC_000010.10:g.96748757_96748764delinsTCTACCAG , CM000672.1:g.96748757_96748764delinsTCTACCAG | GRCh37 |
| NC_000010.9:g.96738747_96738754delinsTCTACCAG | NCBI36 |
| NG_008385.1:g.55343_55350delinsTCTACCAG | |
| NG_008385.2:g.55843_55850delinsTCTACCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.1445_1452delinsTCTACCAG MANE Select | ENSP00000260682.6:p.Phe482= | |
| ENST00000643112.1:c.*454_*461delinsTCTACCAG | ENSP00000496202.1:n.*454_*461delinsTCTACCAG | |
| ENST00000260682.6:c.1445_1452delinsTCTACCAG | ENSP00000260682.6:p.Phe482= | |
| NM_000771.3:c.1445_1452delinsTCTACCAG | NP_000762.2:p.Phe482= | |
| NM_000771.4:c.1445_1452delinsTCTACCAG MANE Select | NP_000762.2:p.Phe482= |