HGVS | Genome Assembly |
---|---|
NC_000004.12:g.52028070_52028071del , CM000666.2:g.52028070_52028071del | GRCh38 |
NC_000004.11:g.52894236_52894237del , CM000666.1:g.52894236_52894237del | GRCh37 |
NC_000004.10:g.52588993_52588994del | NCBI36 |
NG_008891.1:g.15252_15253del , LRG_204:g.15252_15253del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381431.10:c.653_654del MANE Select | ENSP00000370839.6:p.Ile218LysfsTer3 | |
ENST00000381431.9:c.653_654del | ENSP00000370839.5:p.Ile218LysfsTer3 | |
NM_000232.4:c.653_654del , LRG_204t1:c.653_654del | NP_000223.1:p.Ile218LysfsTer3 | |
XM_006714049.2:c.356_357del | XP_006714112.1:p.Ile119LysfsTer3 | |
XM_011534403.1:c.443_444del | XP_011532705.1:p.Ile148LysfsTer3 | |
XM_011534404.1:c.356_357del | XP_011532706.1:p.Ile119LysfsTer3 | |
NM_000232.5:c.653_654del MANE Select | NP_000223.1:p.Ile218LysfsTer3 |