HGVS | Genome Assembly |
---|---|
NC_000011.10:g.118312686_118312729del , CM000673.2:g.118312686_118312729del | GRCh38 |
NC_000011.9:g.118183401_118183444del , CM000673.1:g.118183401_118183444del | GRCh37 |
NC_000011.8:g.117688611_117688654del | NCBI36 |
NG_007383.1:g.13107_13150del , LRG_38:g.13107_13150del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000361763.9:c.172_215del MANE Select | ENSP00000354566.4:p.Leu58Ter | |
ENST00000361763.8:c.172_215del | ENSP00000354566.4:p.Leu58Ter | |
ENST00000526146.5:n.718_761del | ||
ENST00000528435.5:n.725_768del | ||
ENST00000528600.1:c.154_197del | ENSP00000433975.1:p.Leu52Ter | |
ENST00000529713.5:n.278_321del | ||
ENST00000531913.1:n.543_586del | ||
NM_000733.3:c.172_215del , LRG_38t1:c.172_215del | NP_000724.1:p.Leu58Ter | |
NM_000733.4:c.172_215del MANE Select | NP_000724.1:p.Leu58Ter |