HGVS | Genome Assembly |
---|---|
NC_000007.14:g.107779619_107779620del , CM000669.2:g.107779619_107779620del | GRCh38 |
NC_000007.13:g.107420064_107420065del , CM000669.1:g.107420064_107420065del | GRCh37 |
NC_000007.12:g.107207300_107207301del | NCBI36 |
NG_008046.1:g.28616_28617del , LRG_683:g.28616_28617del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000340010.10:c.1407+50_1407+51del MANE Select | ENSP00000345873.5:n.1407+50_1407+51del | |
ENST00000340010.9:c.1407+50_1407+51del | ENSP00000345873.5:n.1407+50_1407+51del | |
ENST00000379083.7:c.*1198+50_*1198+51del | ENSP00000368375.3:n.*1198+50_*1198+51del | |
NM_000111.2:c.1407+50_1407+51del , LRG_683t1:c.1407+50_1407+51del | NP_000102.1:n.1407+50_1407+51del | |
XM_011515867.1:c.1407+50_1407+51del | XP_011514169.1:n.1407+50_1407+51del | |
NM_000111.3:c.1407+50_1407+51del MANE Select | NP_000102.1:n.1407+50_1407+51del |