HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41624293dup , CM000679.2:g.41624293dup | GRCh38 |
NC_000017.10:g.39780545dup , CM000679.1:g.39780545dup | GRCh37 |
NC_000017.9:g.37034071dup | NCBI36 |
NG_008625.1:g.5340dup | |
NG_009090.2:g.167422dup , LRG_401:g.167422dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311208.13:c.219dup MANE Select | ENSP00000308452.8:p.Gly74TrpfsTer4 | |
ENST00000311208.12:c.219dup | ENSP00000308452.8:p.Gly74TrpfsTer4 | |
ENST00000463128.5:c.-312-85dup | ENSP00000468672.1:n.-312-85dup | |
ENST00000491673.1:n.285dup | ||
ENST00000493253.5:n.6dup | ||
ENST00000540235.5:c.14dup | ENSP00000441751.2:p.Leu5PhefsTer24 | |
ENST00000577817.3:c.174dup | ENSP00000467418.1:p.Gly59TrpfsTer4 | |
NM_000422.2:c.219dup | NP_000413.1:p.Gly74TrpfsTer4 | |
NM_000422.3:c.219dup MANE Select | NP_000413.1:p.Gly74TrpfsTer4 |