HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31270081_31270082dup , CM000668.2:g.31270081_31270082dup | GRCh38 |
NC_000006.11:g.31237858_31237859dup , CM000668.1:g.31237858_31237859dup | GRCh37 |
NC_000006.10:g.31345837_31345838dup | NCBI36 |
NG_029422.2:g.7050_7051dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.899_900dup MANE Select | ENSP00000365402.5:p.Ser301HisfsTer22 | |
ENST00000376228.9:c.899_900dup | ENSP00000365402.5:p.Ser301HisfsTer22 | |
ENST00000376237.8:c.*486_*487dup | ENSP00000365412.4:n.*486_*487dup | |
ENST00000383329.7:c.899_900dup | ENSP00000372819.3:p.Ser301HisfsTer22 | |
ENST00000470363.5:n.217_218dup | ||
ENST00000487245.5:n.1258_1259dup | ||
NM_002117.5:c.899_900dup | NP_002108.4:p.Ser301HisfsTer22 | |
NM_002117.6:c.899_900dup MANE Select | NP_002108.4:p.Ser301HisfsTer22 |