HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67436522_67436540del , CM000678.2:g.67436522_67436540del | GRCh38 |
NC_000016.9:g.67470425_67470443del , CM000678.1:g.67470425_67470443del | GRCh37 |
NC_000016.8:g.66027926_66027944del | NCBI36 |
NG_011482.1:g.49649_49667del | |
NG_016549.1:g.10390_10408del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000326152.6:c.803-66_803-48del MANE Select | ENSP00000316786.5:n.803-66_803-48del | |
ENST00000326152.5:c.803-66_803-48del | ENSP00000316786.5:n.803-66_803-48del | |
NM_000196.3:c.803-66_803-48del | NP_000187.3:n.803-66_803-48del | |
NM_000196.4:c.803-66_803-48del MANE Select | NP_000187.3:n.803-66_803-48del |