HGVS | Genome Assembly |
---|---|
NC_000009.12:g.136674737del , CM000671.2:g.136674737del | GRCh38 |
NC_000009.11:g.139569189del , CM000671.1:g.139569189del | GRCh37 |
NC_000009.10:g.138689010del | NCBI36 |
NG_008090.1:g.17723del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371696.7:c.659del MANE Select | ENSP00000360761.2:p.Ser220Ter | |
ENST00000371694.7:c.563del | ENSP00000360759.3:p.Ser188Ter | |
ENST00000371696.6:c.659del | ENSP00000360761.2:p.Ser220Ter | |
ENST00000472820.1:n.587del | ||
ENST00000538402.1:c.659del | ENSP00000438919.1:p.Ser220Ter | |
NM_001012727.1:c.563del | NP_001012745.1:p.Ser188Ter | |
NM_006412.3:c.659del | NP_006403.2:p.Ser220Ter | |
NM_006412.4:c.659del MANE Select | NP_006403.2:p.Ser220Ter | |
NM_001012727.2:c.563del | NP_001012745.1:p.Ser188Ter |