HGVS | Genome Assembly |
---|---|
NC_000011.10:g.69648043_69648048dup , CM000673.2:g.69648043_69648048dup | GRCh38 |
NC_000011.9:g.69462811_69462816dup , CM000673.1:g.69462811_69462816dup | GRCh37 |
NC_000011.8:g.69171992_69171997dup | NCBI36 |
NG_007375.1:g.11939_11944dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000227507.3:c.624_629dup MANE Select | ENSP00000227507.2:p.Ala210_Ala211insValAla | |
ENST00000227507.2:c.624_629dup | ENSP00000227507.2:p.Ala210_Ala211insValAla | |
ENST00000536559.1:c.*44_*49dup | ENSP00000438482.1:n.*44_*49dup | |
ENST00000542367.1:n.87_92dup | ||
ENST00000545484.1:n.330_335dup | ||
NM_053056.2:c.624_629dup | NP_444284.1:p.Ala210_Ala211insValAla | |
XM_006718653.2:c.648_653dup | XP_006718716.1:p.Ala218_Ala219insValAla | |
NM_053056.3:c.624_629dup MANE Select | NP_444284.1:p.Ala210_Ala211insValAla |