HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48410786_48410787del , CM000677.2:g.48410786_48410787del | GRCh38 |
NC_000015.9:g.48702983_48702984del , CM000677.1:g.48702983_48702984del | GRCh37 |
NC_000015.8:g.46490275_46490276del | NCBI36 |
NG_008805.2:g.240007_240008del , LRG_778:g.240007_240008del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.*1632_*1633del | ENSP00000453958.2:n.*1632_*1633del | |
ENST00000682158.1:n.2205_2206del | ||
ENST00000682170.1:n.3005_3006del | ||
ENST00000682767.1:n.2121_2122del | ||
ENST00000316623.10:c.*208_*209del MANE Select | ENSP00000325527.5:n.*208_*209del | |
ENST00000316623.9:c.*208_*209del | ENSP00000325527.5:n.*208_*209del | |
ENST00000559133.5:c.4193_4194del | ||
NM_000138.4:c.*208_*209del , LRG_778t1:c.*208_*209del | NP_000129.3:n.*208_*209del | |
NM_000138.5:c.*208_*209del MANE Select | NP_000129.3:n.*208_*209del |