HGVS | Genome Assembly |
---|---|
NC_000010.11:g.133539074_133539077del , CM000672.2:g.133539074_133539077del | GRCh38 |
NC_000010.10:g.135352578_135352581del , CM000672.1:g.135352578_135352581del | GRCh37 |
NC_000010.9:g.135202568_135202571del | NCBI36 |
NG_008383.1:g.16712_16715del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252945.8:c.*110_*113del MANE Select | ENSP00000252945.3:n.*110_*113del | |
ENST00000252945.7:c.*110_*113del | ENSP00000252945.3:n.*110_*113del | |
ENST00000368520.1:n.1358+1182_1358+1185del | ||
ENST00000463117.6:c.*110_*113del | ENSP00000440689.1:n.*110_*113del | |
ENST00000469258.1:n.688_691del | ||
NM_000773.3:c.*110_*113del | NP_000764.1:n.*110_*113del | |
NM_000773.4:c.*110_*113del MANE Select | NP_000764.1:n.*110_*113del |