HGVS | Genome Assembly |
---|---|
NC_000006.12:g.6145253_6145254del , CM000668.2:g.6145253_6145254del | GRCh38 |
NC_000006.11:g.6145486_6145487del , CM000668.1:g.6145486_6145487del | GRCh37 |
NC_000006.10:g.6090485_6090486del | NCBI36 |
NG_008107.1:g.180438_180439del , LRG_549:g.180438_180439del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264870.8:c.*365_*366del MANE Select | ENSP00000264870.3:n.*365_*366del | |
ENST00000264870.7:c.*365_*366del | ENSP00000264870.3:n.*365_*366del | |
NM_000129.3:c.*365_*366del , LRG_549t1:c.*365_*366del | NP_000120.2:n.*365_*366del | |
XM_006715010.2:c.*365_*366del | XP_006715073.1:n.*365_*366del | |
XM_011514342.1:c.*365_*366del | XP_011512644.1:n.*365_*366del | |
NM_000129.4:c.*365_*366del MANE Select | NP_000120.2:n.*365_*366del |