HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31269990_31269993delinsTAGC , CM000668.2:g.31269990_31269993delinsTAGC | GRCh38 |
NC_000006.11:g.31237767_31237770delinsTAGC , CM000668.1:g.31237767_31237770delinsTAGC | GRCh37 |
NC_000006.10:g.31345746_31345749delinsTAGC | NCBI36 |
NG_029422.2:g.7139_7142delinsGCTA |
HGVS | Amino-acid change | |
---|---|---|
ENST00000376228.10:c.988_991delinsGCTA MANE Select | ENSP00000365402.5:p.Ala330= | |
ENST00000376228.9:c.988_991delinsGCTA | ENSP00000365402.5:p.Ala330= | |
ENST00000376237.8:c.*575_*578delinsGCTA | ENSP00000365412.4:n.*575_*578delinsGCTA | |
ENST00000383329.7:c.988_991delinsGCTA | ENSP00000372819.3:p.Ala330= | |
ENST00000470363.5:n.306_309delinsGCTA | ||
ENST00000487245.5:n.1347_1350delinsGCTA | ||
NM_002117.5:c.988_991delinsGCTA | NP_002108.4:p.Ala330= | |
NM_002117.6:c.988_991delinsGCTA MANE Select | NP_002108.4:p.Ala330= |