HGVS | Genome Assembly |
---|---|
NC_000021.9:g.31659806_31659823dup , CM000683.2:g.31659806_31659823dup | GRCh38 |
NC_000021.8:g.33032119_33032136dup , CM000683.1:g.33032119_33032136dup | GRCh37 |
NC_000021.7:g.31953990_31954007dup | NCBI36 |
NG_008689.1:g.5185_5202dup , LRG_652:g.5185_5202dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270142.11:c.37_54dup MANE Select | ENSP00000270142.7:p.Ile18_Ile19insGlyProValGlnGlyIle | |
ENST00000270142.10:c.37_54dup | ENSP00000270142.6:p.Ile18_Ile19insGlyProValGlnGlyIle | |
ENST00000389995.4:c.15+22_15+39dup | ENSP00000374645.4:n.15+22_15+39dup | |
ENST00000470944.1:n.98_115dup | ||
ENST00000476106.5:n.114_131dup | ||
NM_000454.4:c.37_54dup , LRG_652t1:c.37_54dup | NP_000445.1:p.Ile18_Ile19insGlyProValGlnGlyIle | |
NM_000454.5:c.37_54dup MANE Select | NP_000445.1:p.Ile18_Ile19insGlyProValGlnGlyIle |