Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432090_229432093delinsGGGA , CM000663.2:g.229432090_229432093delinsGGGA | GRCh38 |
| NC_000001.10:g.229567837_229567840delinsGGGA , CM000663.1:g.229567837_229567840delinsGGGA | GRCh37 |
| NC_000001.9:g.227634460_227634463delinsGGGA | NCBI36 |
| NG_006672.1:g.7004_7007delinsTCCC , LRG_429:g.7004_7007delinsTCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.709_712delinsTCCC | ENSP00000355644.4:p.Ser237= | |
| ENST00000684723.1:c.574_577delinsTCCC | ENSP00000508084.1:p.Ser192= | |
| ENST00000366683.3:c.480-231_480-228delinsTCCC | ENSP00000355644.3:n.480-231_480-228delinsTCCC | |
| ENST00000366684.7:c.709_712delinsTCCC MANE Select | ENSP00000355645.3:p.Ser237= | |
| NM_001100.3:c.709_712delinsTCCC , LRG_429t1:c.709_712delinsTCCC | NP_001091.1:p.Ser237= | |
| NM_001100.4:c.709_712delinsTCCC MANE Select | NP_001091.1:p.Ser237= |