Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583685_41583687delinsAAG , CM000679.2:g.41583685_41583687delinsAAG | GRCh38 |
| NC_000017.10:g.39739937_39739939delinsAAG , CM000679.1:g.39739937_39739939delinsAAG | GRCh37 |
| NC_000017.9:g.36993463_36993465delinsAAG | NCBI36 |
| NG_008624.1:g.8209_8211delinsCTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000167586.7:c.928-11_928-9delinsCTT MANE Select | ENSP00000167586.6:n.928-11_928-9delinsCTT... | |
| ENST00000167586.6:c.928-11_928-9delinsCTT | ENSP00000167586.6:n.928-11_928-9delinsCTT... | |
| ENST00000476662.1:n.378-11_378-9delinsCTT | ||
| NM_000526.4:c.928-11_928-9delinsCTT | NP_000517.2:n.928-11_928-9delinsCTT | |
| NM_000526.5:c.928-11_928-9delinsCTT MANE Select | NP_000517.3:n.928-11_928-9delinsCTT |