HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4898788_4898789delinsGC , CM000679.2:g.4898788_4898789delinsGC | GRCh38 |
NC_000017.10:g.4802083_4802084delinsGC , CM000679.1:g.4802083_4802084delinsGC | GRCh37 |
NC_000017.9:g.4742862_4742863delinsGC | NCBI36 |
NG_008029.2:g.9287_9288delinsGC | |
NG_028005.1:g.70449_70450delinsGC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649488.2:c.1429_1430delinsGC MANE Select | ENSP00000497829.1:p.Ala477= | |
ENST00000649830.1:c.*65_*66delinsGC | ENSP00000496907.1:n.*65_*66delinsGC | |
ENST00000652550.1:n.1155_1156delinsGC | ||
ENST00000293780.4:c.1429_1430delinsGC | ENSP00000293780.4:p.Ala477= | |
ENST00000572438.1:n.1115_1116delinsGC | ||
NM_000080.3:c.1429_1430delinsGC | NP_000071.1:p.Ala477= | |
NM_000080.4:c.1429_1430delinsGC MANE Select | NP_000071.1:p.Ala477= | |
XM_017024115.1:c.1393_1394delinsGC | XP_016879604.1:p.Ala465= |