HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2787672_2787673del , CM000686.2:g.2787672_2787673del | GRCh38 |
NC_000024.9:g.2655713_2655714del , CM000686.1:g.2655713_2655714del | GRCh37 |
NC_000024.8:g.2715713_2715714del | NCBI36 |
NG_011751.1:g.5081_5082del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000679518.1:n.106+12933_106+12934del | ||
ENST00000680285.1:n.320-2077_320-2076del | ||
ENST00000681787.1:n.106+12933_106+12934del | ||
ENST00000681940.1:n.106+12933_106+12934del | ||
ENST00000383070.2:c.-68_-67del MANE Select | ENSP00000372547.1:n.-68_-67del | |
ENST00000383070.1:c.-68_-67del | ENSP00000372547.1:n.-68_-67del | |
NM_003140.2:c.-68_-67del | NP_003131.1:n.-68_-67del | |
NM_003140.3:c.-68_-67del MANE Select | NP_003131.1:n.-68_-67del |