HGVS | Genome Assembly |
---|---|
NC_000015.10:g.74751913_74751914del , CM000677.2:g.74751913_74751914del | GRCh38 |
NC_000015.9:g.75044254_75044255del , CM000677.1:g.75044254_75044255del | GRCh37 |
NC_000015.8:g.72831307_72831308del | NCBI36 |
NG_008431.1:g.34372_34373del | |
NG_008431.2:g.34372_34373del | |
NG_061543.1:g.8069_8070del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000343932.5:c.1042+59_1042+60del MANE Select | ENSP00000342007.4:n.1042+59_1042+60del | |
ENST00000343932.4:c.1042+59_1042+60del | ENSP00000342007.4:n.1042+59_1042+60del | |
NM_000761.4:c.1042+59_1042+60del | NP_000752.2:n.1042+59_1042+60del | |
NM_000761.5:c.1042+59_1042+60del MANE Select | NP_000752.2:n.1042+59_1042+60del |