Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44456713_44456718delinsCCTCTT , CM000683.2:g.44456713_44456718delinsCCTCTT | GRCh38 |
| NC_000021.8:g.45876596_45876601delinsCCTCTT , CM000683.1:g.45876596_45876601delinsCCTCTT | GRCh37 |
| NC_000021.7:g.44701024_44701029delinsCCTCTT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291592.6:c.69_74delinsCCTCTT MANE Select | ENSP00000291592.4:p.Leu23= | |
| ENST00000291592.5:c.69_74delinsCCTCTT | ENSP00000291592.4:p.Leu23= | |
| NM_030891.4:c.69_74delinsCCTCTT | NP_112153.1:p.Leu23= | |
| NM_030891.5:c.69_74delinsCCTCTT | NP_112153.1:p.Leu23= | |
| NM_030891.6:c.69_74delinsCCTCTT MANE Select | NP_112153.1:p.Leu23= |