HGVS | Genome Assembly |
---|---|
NC_000021.9:g.45990492_45990495del , CM000683.2:g.45990492_45990495del | GRCh38 |
NC_000021.8:g.47410406_47410409del , CM000683.1:g.47410406_47410409del | GRCh37 |
NC_000021.7:g.46234834_46234837del | NCBI36 |
NG_008674.1:g.13744_13747del , LRG_475:g.13744_13747del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361866.8:c.1002+70_1002+73del MANE Select | ENSP00000355180.3:n.1002+70_1002+73del | |
ENST00000361866.7:c.1002+70_1002+73del | ENSP00000355180.3:n.1002+70_1002+73del | |
ENST00000612273.1:c.1002+70_1002+73del | ENSP00000483630.1:n.1002+70_1002+73del | |
NM_001848.2:c.1002+70_1002+73del , LRG_475t1:c.1002+70_1002+73del | NP_001839.2:n.1002+70_1002+73del | |
NM_001848.3:c.1002+70_1002+73del MANE Select | NP_001839.2:n.1002+70_1002+73del |