HGVS | Genome Assembly |
---|---|
NC_000002.12:g.29071047_29071101del , CM000664.2:g.29071047_29071101del | GRCh38 |
NC_000002.11:g.29293913_29293967del , CM000664.1:g.29293913_29293967del | GRCh37 |
NC_000002.10:g.29147417_29147471del | NCBI36 |
NG_021427.1:g.8163_8217del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000331664.6:c.3163_3217del MANE Select | ENSP00000332809.4:p.Lys1055ProfsTer? | |
ENST00000331664.5:c.3163_3217del | ENSP00000332809.4:p.Lys1055ProfsTer? | |
NM_001029883.2:c.3163_3217del | NP_001025054.1:p.Lys1055ProfsTer? | |
XM_011532826.1:c.3163_3217del | XP_011531128.1:p.Lys1055ProfsTer? | |
XR_939901.1:n.185+1880_185+1934del | ||
XR_939902.1:n.173+1892_173+1946del | ||
NM_001029883.3:c.3163_3217del MANE Select | NP_001025054.1:p.Lys1055ProfsTer? |