HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122508768_122508769dup , CM000672.2:g.122508768_122508769dup | GRCh38 |
NC_000010.10:g.124268284_124268285dup , CM000672.1:g.124268284_124268285dup | GRCh37 |
NC_000010.9:g.124258274_124258275dup | NCBI36 |
NG_011554.1:g.52244_52245dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000368984.8:c.1118_1119dup MANE Select | ENSP00000357980.3:p.Gly374LysfsTer15 | |
ENST00000648167.1:c.800_801dup | ENSP00000498033.1:p.Gly268LysfsTer15 | |
ENST00000368984.7:c.1118_1119dup | ENSP00000357980.3:p.Gly374LysfsTer15 | |
ENST00000420892.1:c.341_342dup | ENSP00000412676.1:p.Gly115LysfsTer15 | |
NM_002775.4:c.1118_1119dup | NP_002766.1:p.Gly374LysfsTer15 | |
NM_002775.5:c.1118_1119dup MANE Select | NP_002766.1:p.Gly374LysfsTer15 |