HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41583084_41583086del , CM000679.2:g.41583084_41583086del | GRCh38 |
NC_000017.10:g.39739336_39739338del , CM000679.1:g.39739336_39739338del | GRCh37 |
NC_000017.9:g.36992862_36992864del | NCBI36 |
NG_008624.1:g.8817_8819del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000167586.7:c.1321+15_1321+17del MANE Select | ENSP00000167586.6:n.1321+15_1321+17del | |
ENST00000167586.6:c.1321+15_1321+17del | ENSP00000167586.6:n.1321+15_1321+17del | |
ENST00000441550.2:n.283_285del | ||
NM_000526.4:c.1321+15_1321+17del | NP_000517.2:n.1321+15_1321+17del | |
NM_000526.5:c.1321+15_1321+17del MANE Select | NP_000517.3:n.1321+15_1321+17del |