Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9126782_9126788delinsTGTGGAG , CM000681.2:g.9126782_9126788delinsTGTGGAG | GRCh38 |
| NC_000019.9:g.9237458_9237464delinsTGTGGAG , CM000681.1:g.9237458_9237464delinsTGTGGAG | GRCh37 |
| NC_000019.8:g.9098458_9098464delinsTGTGGAG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305444.2:c.163_169delinsCTCCACA MANE Select | ENSP00000302867.2:p.Leu55= | |
| NM_001001958.1:c.163_169delinsCTCCACA MANE Select | NP_001001958.1:p.Leu55= |