HGVS | Genome Assembly |
---|---|
NC_000012.12:g.21176832del , CM000674.2:g.21176832del | GRCh38 |
NC_000012.11:g.21329766del , CM000674.1:g.21329766del | GRCh37 |
NC_000012.10:g.21221033del | NCBI36 |
NG_011745.1:g.50639del , LRG_1022:g.50639del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000256958.3:c.416del MANE Select | ENSP00000256958.2:p.Leu139TyrfsTer5 | |
ENST00000256958.2:c.416del | ENSP00000256958.2:p.Leu139TyrfsTer5 | |
ENST00000543498.5:c.482del | ||
NM_006446.4:c.416del , LRG_1022t1:c.416del | NP_006437.3:p.Leu139TyrfsTer5 | |
NM_006446.5:c.416del MANE Select | NP_006437.3:p.Leu139TyrfsTer5 |