HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57764135_57764139delinsTTGTC , CM000674.2:g.57764135_57764139delinsTTGTC | GRCh38 |
NC_000012.11:g.58157918_58157922delinsTTGTC , CM000674.1:g.58157918_58157922delinsTTGTC | GRCh37 |
NC_000012.10:g.56444185_56444189delinsTTGTC | NCBI36 |
NG_007076.1:g.8055_8059delinsGACAA |
HGVS | Amino-acid change | |
---|---|---|
ENST00000713544.1:c.1255_1259delinsGACAA | ENSP00000518840.1:p.Asp419= | |
ENST00000713545.1:c.*179_*183delinsGACAA | ENSP00000518841.1:n.*179_*183delinsGACAA | |
ENST00000228606.9:c.1174_1178delinsGACAA MANE Select | ENSP00000228606.4:p.Asp392= | |
ENST00000228606.8:c.1174_1178delinsGACAA | ENSP00000228606.4:p.Asp392= | |
ENST00000547344.5:n.1313_1317delinsGACAA | ||
NM_000785.3:c.1174_1178delinsGACAA | NP_000776.1:p.Asp392= | |
NM_000785.4:c.1174_1178delinsGACAA MANE Select | NP_000776.1:p.Asp392= |