HGVS | Genome Assembly |
---|---|
NC_000019.10:g.49154455_49154456insCAT , CM000681.2:g.49154455_49154456insCAT | GRCh38 |
NC_000019.9:g.49657712_49657713insCAT , CM000681.1:g.49657712_49657713insCAT | GRCh37 |
NC_000019.8:g.54349524_54349525insCAT | NCBI36 |
NG_027551.1:g.1697_1698insCAT | |
NG_027551.2:g.1697_1698insCAT |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252825.9:c.782_783insATG MANE Select | ENSP00000252825.3:p.Asp261delinsGluCys | |
ENST00000252825.8:c.782_783insATG | ENSP00000252825.3:p.Asp261delinsGluCys | |
ENST00000595625.1:c.782_783insATG | ENSP00000470288.1:p.Asp261delinsGluCys | |
NM_002152.2:c.782_783insATG | NP_002143.1:p.Asp261delinsGluCys | |
XR_243928.2:n.974_975insATG | ||
XM_017026733.2:c.1004_1005insATG | XP_016882222.2:p.Asp335delinsGluCys | |
NM_002152.3:c.782_783insATG MANE Select | NP_002143.1:p.Asp261delinsGluCys |