HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2787592del , CM000686.2:g.2787592del | GRCh38 |
NC_000024.9:g.2655633del , CM000686.1:g.2655633del | GRCh37 |
NC_000024.8:g.2715633del | NCBI36 |
NG_011751.1:g.5160del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000679518.1:n.106+12853del | ||
ENST00000680285.1:n.320-2157del | ||
ENST00000680845.1:n.278del | ||
ENST00000681787.1:n.106+12853del | ||
ENST00000681940.1:n.106+12853del | ||
ENST00000383070.2:c.12del MANE Select | ENSP00000372547.1:p.Tyr4Ter | |
ENST00000383070.1:c.12del | ENSP00000372547.1:p.Tyr4Ter | |
NM_003140.2:c.12del | NP_003131.1:p.Tyr4Ter | |
NM_003140.3:c.12del MANE Select | NP_003131.1:p.Tyr4Ter |