HGVS | Genome Assembly |
---|---|
NC_000022.11:g.27751038_27751039delinsGC , CM000684.2:g.27751038_27751039delinsGC | GRCh38 |
NC_000022.10:g.28147026_28147027delinsGC , CM000684.1:g.28147026_28147027delinsGC | GRCh37 |
NC_000022.9:g.26477026_26477027delinsGC | NCBI36 |
NG_023258.1:g.55460_55461delinsGC |
HGVS | Amino-acid change | |
---|---|---|
ENST00000703102.1:n.364_365delinsGC | ||
ENST00000302326.5:c.3839_3840delinsGC MANE Select | ENSP00000304956.4:p.Cys1280= | |
ENST00000302326.4:c.3839_3840delinsGC | ENSP00000304956.4:p.Cys1280= | |
ENST00000424656.1:c.192_193delinsGC | ||
ENST00000497225.1:n.195_196delinsGC | ||
NM_002430.2:c.3839_3840delinsGC | NP_002421.3:p.Cys1280= | |
NM_002430.3:c.3839_3840delinsGC MANE Select | NP_002421.3:p.Cys1280= |