HGVS | Genome Assembly |
---|---|
NC_000023.11:g.74421772_74421777dup , CM000685.2:g.74421772_74421777dup | GRCh38 |
NC_000023.10:g.73641607_73641612dup , CM000685.1:g.73641607_73641612dup | GRCh37 |
NC_000023.9:g.73558332_73558337dup | NCBI36 |
NG_011641.1:g.5523_5528dup | |
NG_011641.2:g.5523_5528dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000587091.6:c.135_140dup MANE Select | ENSP00000465734.1:p.Pro47_Pro48insValPro | |
ENST00000587091.5:c.135_140dup | ENSP00000465734.1:p.Pro47_Pro48insValPro | |
NM_006517.4:c.135_140dup | NP_006508.2:p.Pro47_Pro48insValPro | |
XM_005262294.1:c.135_140dup | XP_005262351.1:p.Pro47_Pro48insValPro | |
XM_011531015.1:c.135_140dup | XP_011529317.1:p.Pro47_Pro48insValPro | |
NM_006517.5:c.135_140dup MANE Select | NP_006508.2:p.Pro47_Pro48insValPro |