Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21845306_21845309delinsTTCC , CM000685.2:g.21845306_21845309delinsTTCC | GRCh38 |
| NC_000023.10:g.21863424_21863427delinsTTCC , CM000685.1:g.21863424_21863427delinsTTCC | GRCh37 |
| NC_000023.9:g.21773345_21773348delinsTTCC | NCBI36 |
| NG_012797.1:g.10769_10772delinsTTCC | |
| NG_012797.2:g.10769_10772delinsTTCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379484.10:c.360_363delinsTTCC MANE Select | ENSP00000368798.5:p.Ser120= | |
| ENST00000365779.2:c.360_363delinsTTCC | ENSP00000368796.1:p.Ser120= | |
| ENST00000379484.9:c.360_363delinsTTCC | ENSP00000368798.5:p.Ser120= | |
| ENST00000465888.1:n.459_462delinsTTCC | ||
| NM_015884.3:c.360_363delinsTTCC | NP_056968.1:p.Ser120= | |
| NM_015884.4:c.360_363delinsTTCC MANE Select | NP_056968.1:p.Ser120= |