HGVS | Genome Assembly |
---|---|
NC_000007.14:g.1234102_1234103del , CM000669.2:g.1234102_1234103del | GRCh38 |
NC_000007.13:g.1273738_1273739del , CM000669.1:g.1273738_1273739del | GRCh37 |
NC_000007.12:g.1240264_1240265del | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000316333.9:c.450+407_450+408del MANE Select | ENSP00000314480.8:n.450+407_450+408del | |
ENST00000316333.8:c.450+407_450+408del | ENSP00000314480.8:n.450+407_450+408del | |
NM_001080461.1:c.450+407_450+408del | NP_001073930.1:n.450+407_450+408del | |
NM_001080461.2:c.450+407_450+408del | NP_001073930.1:n.450+407_450+408del | |
NM_001080461.3:c.450+407_450+408del MANE Select | NP_001073930.1:n.450+407_450+408del |