HGVS | Genome Assembly |
---|---|
NC_000015.10:g.73323183_73323186dup , CM000677.2:g.73323183_73323186dup | GRCh38 |
NC_000015.9:g.73615524_73615527dup , CM000677.1:g.73615524_73615527dup | GRCh37 |
NC_000015.8:g.71402577_71402580dup | NCBI36 |
NG_009063.1:g.51080_51083dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261917.4:c.2908_2911dup MANE Select | ENSP00000261917.3:p.Ser971IlefsTer2 | |
ENST00000261917.3:c.2908_2911dup | ENSP00000261917.3:p.Ser971IlefsTer2 | |
NM_005477.2:c.2908_2911dup | NP_005468.1:p.Ser971IlefsTer2 | |
XM_011521148.1:c.1690_1693dup | XP_011519450.1:p.Ser565IlefsTer2 | |
XM_011521148.2:c.1690_1693dup | XP_011519450.1:p.Ser565IlefsTer2 | |
NM_005477.3:c.2908_2911dup MANE Select | NP_005468.1:p.Ser971IlefsTer2 |