HGVS | Genome Assembly |
---|---|
NC_000015.10:g.73322994dup , CM000677.2:g.73322994dup | GRCh38 |
NC_000015.9:g.73615335dup , CM000677.1:g.73615335dup | GRCh37 |
NC_000015.8:g.71402388dup | NCBI36 |
NG_009063.1:g.51276dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261917.4:c.3104dup MANE Select | ENSP00000261917.3:p.Arg1036LysfsTer? | |
ENST00000261917.3:c.3104dup | ENSP00000261917.3:p.Arg1036LysfsTer? | |
NM_005477.2:c.3104dup | NP_005468.1:p.Arg1036LysfsTer? | |
XM_011521148.1:c.1886dup | XP_011519450.1:p.Arg630LysfsTer? | |
XM_011521148.2:c.1886dup | XP_011519450.1:p.Arg630LysfsTer? | |
NM_005477.3:c.3104dup MANE Select | NP_005468.1:p.Arg1036LysfsTer? |