HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23431285_23431287delinsCAG , CM000676.2:g.23431285_23431287delinsCAG | GRCh38 |
NC_000014.8:g.23900494_23900496delinsCAG , CM000676.1:g.23900494_23900496delinsCAG | GRCh37 |
NC_000014.7:g.22970334_22970336delinsCAG | NCBI36 |
NG_007884.1:g.9375_9377delinsCTG , LRG_384:g.9375_9377delinsCTG |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.796+131_796+133delinsCTG MANE Select | ENSP00000347507.3:n.796+131_796+133delinsCTG | |
ENST00000355349.3:c.796+131_796+133delinsCTG | ENSP00000347507.3:n.796+131_796+133delinsCTG | |
NM_000257.3:c.796+131_796+133delinsCTG | NP_000248.2:n.796+131_796+133delinsCTG | |
XR_245686.3:n.902+131_902+133delinsCTG | ||
XM_017021340.1:c.796+131_796+133delinsCTG | XP_016876829.1:n.796+131_796+133delinsCTG | |
NM_000257.4:c.796+131_796+133delinsCTG MANE Select | NP_000248.2:n.796+131_796+133delinsCTG |