HGVS | Genome Assembly |
---|---|
NC_000011.10:g.118312650del , CM000673.2:g.118312650del | GRCh38 |
NC_000011.9:g.118183365del , CM000673.1:g.118183365del | GRCh37 |
NC_000011.8:g.117688575del | NCBI36 |
NG_007383.1:g.13071del , LRG_38:g.13071del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361763.9:c.136del MANE Select | ENSP00000354566.4:p.Ile46TyrfsTer2 | |
ENST00000361763.8:c.136del | ENSP00000354566.4:p.Ile46TyrfsTer2 | |
ENST00000526146.5:n.682del | ||
ENST00000528435.5:n.689del | ||
ENST00000528600.1:c.118del | ENSP00000433975.1:p.Ile40TyrfsTer2 | |
ENST00000529713.5:n.242del | ||
ENST00000531913.1:n.507del | ||
NM_000733.3:c.136del , LRG_38t1:c.136del | NP_000724.1:p.Ile46TyrfsTer2 | |
NM_000733.4:c.136del MANE Select | NP_000724.1:p.Ile46TyrfsTer2 |