HGVS | Genome Assembly |
---|---|
NC_000002.12:g.21002758_21002759dup , CM000664.2:g.21002758_21002759dup | GRCh38 |
NC_000002.11:g.21225630_21225631dup , CM000664.1:g.21225630_21225631dup | GRCh37 |
NC_000002.10:g.21079135_21079136dup | NCBI36 |
NG_011793.1:g.46315_46316dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000233242.5:c.12663_12664dup MANE Select | ENSP00000233242.1:p.Arg4222LysfsTer4 | |
ENST00000616098.4:c.12663_12664dup | ENSP00000477990.1:p.Arg4222LysfsTer4 | |
NM_000384.2:c.12663_12664dup | NP_000375.2:p.Arg4222LysfsTer4 | |
XM_011532809.1:c.5870-3486_5870-3485dup | XP_011531111.1:n.5870-3486_5870-3485dup | |
NM_000384.3:c.12663_12664dup MANE Select | NP_000375.3:p.Arg4222LysfsTer4 |