HGVS | Genome Assembly |
---|---|
NC_000016.10:g.1985977_1985980dup , CM000678.2:g.1985977_1985980dup | GRCh38 |
NC_000016.9:g.2035978_2035981dup , CM000678.1:g.2035978_2035981dup | GRCh37 |
NC_000016.8:g.1975979_1975982dup | NCBI36 |
NG_016288.1:g.6829_6832dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000567719.2:c.342_345dup | ENSP00000455885.1:p.Val116LysfsTer4 | |
ENST00000248114.7:c.567_570dup MANE Select | ENSP00000248114.6:p.Val191LysfsTer4 | |
ENST00000248114.6:c.567_570dup | ENSP00000248114.6:p.Val191LysfsTer4 | |
ENST00000565658.1:n.724_727dup | ||
ENST00000567719.1:c.342_345dup | ENSP00000455885.1:p.Val116LysfsTer4 | |
ENST00000569451.1:c.*40_*43dup | ENSP00000456432.1:n.*40_*43dup | |
NM_005262.2:c.567_570dup | NP_005253.3:p.Val191LysfsTer4 | |
NM_005262.3:c.567_570dup MANE Select | NP_005253.3:p.Val191LysfsTer4 |