HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24278099_24278104del , CM000668.2:g.24278099_24278104del | GRCh38 |
NC_000006.11:g.24278327_24278332del , CM000668.1:g.24278327_24278332del | GRCh37 |
NC_000006.10:g.24386306_24386311del | NCBI36 |
NG_012829.1:g.84953_84958del | |
NG_012829.2:g.110193_110198del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378454.8:c.871_876del MANE Select | ENSP00000367715.3:p.Leu291_Lys292del | |
ENST00000378454.7:c.871_876del | ENSP00000367715.3:p.Leu291_Lys292del | |
NM_001195610.1:c.871_876del | NP_001182539.1:p.Leu291_Lys292del | |
NM_016356.4:c.871_876del | NP_057440.2:p.Leu291_Lys292del | |
NM_016356.5:c.871_876del MANE Select | NP_057440.2:p.Leu291_Lys292del | |
NM_001195610.2:c.871_876del | NP_001182539.1:p.Leu291_Lys292del |