HGVS | Genome Assembly |
---|---|
NC_000002.12:g.188994527_188994528del , CM000664.2:g.188994527_188994528del | GRCh38 |
NC_000002.11:g.189859253_189859254del , CM000664.1:g.189859253_189859254del | GRCh37 |
NC_000002.10:g.189567498_189567499del | NCBI36 |
NG_007404.1:g.25155_25156del , LRG_3:g.25155_25156del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000450867.2:c.1195-14_1195-13del | ENSP00000415346.2:n.1195-14_1195-13del | |
ENST00000304636.9:c.1294-14_1294-13del MANE Select | ENSP00000304408.4:n.1294-14_1294-13del | |
ENST00000304636.7:c.1294-14_1294-13del | ENSP00000304408.3:n.1294-14_1294-13del | |
ENST00000317840.9:c.1294-14_1294-13del | ENSP00000315243.6:n.1294-14_1294-13del | |
NM_000090.3:c.1294-14_1294-13del , LRG_3t1:c.1294-14_1294-13del | NP_000081.1:n.1294-14_1294-13del | |
NM_000090.4:c.1294-14_1294-13del MANE Select | NP_000081.2:n.1294-14_1294-13del |