HGVS | Genome Assembly |
---|---|
NC_000019.10:g.40848266_40848267delinsGC , CM000681.2:g.40848266_40848267delinsGC | GRCh38 |
NC_000019.9:g.41354171_41354172delinsGC , CM000681.1:g.41354171_41354172delinsGC | GRCh37 |
NC_000019.8:g.46046011_46046012delinsGC | NCBI36 |
NG_008377.1:g.7181_7182delinsGC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301141.10:c.606_607delinsGC MANE Select | ENSP00000301141.4:p.Leu202= | |
ENST00000301141.9:c.606_607delinsGC | ENSP00000301141.4:p.Leu202= | |
ENST00000596719.5:n.457_458delinsGC | ||
ENST00000600495.1:c.*418_*419delinsGC | ENSP00000472905.1:n.*418_*419delinsGC | |
ENST00000601627.1:c.120-43725_120-43724delinsGC | ||
ENST00000610301.1:c.606_607delinsGC | ENSP00000477899.1:p.Leu202= | |
NM_000762.5:c.606_607delinsGC | NP_000753.3:p.Leu202= | |
NM_000762.6:c.606_607delinsGC MANE Select | NP_000753.3:p.Leu202= |