HGVS | Genome Assembly |
---|---|
NC_000011.10:g.44265111_44265113dup , CM000673.2:g.44265111_44265113dup | GRCh38 |
NC_000011.9:g.44286661_44286663dup , CM000673.1:g.44286661_44286663dup | GRCh37 |
NC_000011.8:g.44243237_44243239dup | NCBI36 |
NG_015809.1:g.50054_50056dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000652299.1:c.977_979dup MANE Select | ENSP00000498217.1:p.Asp326_Pro327insHis | |
ENST00000329255.3:c.977_979dup | ENSP00000332744.3:p.Asp326_Pro327insHis | |
NM_021926.3:c.977_979dup | NP_068745.2:p.Asp326_Pro327insHis | |
XM_011520265.1:c.455_457dup | XP_011518567.1:p.Asp152_Pro153insHis | |
XM_011520266.1:c.455_457dup | XP_011518568.1:p.Asp152_Pro153insHis | |
NM_021926.4:c.977_979dup MANE Select | NP_068745.2:p.Asp326_Pro327insHis |