Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.46853631_46853640delinsTACTAACTGC , CM000685.2:g.46853631_46853640delinsTACTAACTGC | GRCh38 |
| NC_000023.10:g.46713066_46713075delinsTACTAACTGC , CM000685.1:g.46713066_46713075delinsTACTAACTGC | GRCh37 |
| NC_000023.9:g.46598010_46598019delinsTACTAACTGC | NCBI36 |
| NG_009107.1:g.21720_21729delinsTACTAACTGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218340.4:c.258_267delinsTACTAACTGC MANE Select | ENSP00000218340.3:p.Cys86= | |
| ENST00000218340.3:c.258_267delinsTACTAACTGC | ENSP00000218340.3:p.Cys86= | |
| NM_006915.2:c.258_267delinsTACTAACTGC | NP_008846.2:p.Cys86= | |
| NM_006915.3:c.258_267delinsTACTAACTGC MANE Select | NP_008846.2:p.Cys86= |