HGVS | Genome Assembly |
---|---|
NC_000023.11:g.74422117_74422120del , CM000685.2:g.74422117_74422120del | GRCh38 |
NC_000023.10:g.73641952_73641955del , CM000685.1:g.73641952_73641955del | GRCh37 |
NC_000023.9:g.73558677_73558680del | NCBI36 |
NG_011641.1:g.5868_5871del | |
NG_011641.2:g.5868_5871del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000587091.6:c.430+50_430+53del MANE Select | ENSP00000465734.1:n.430+50_430+53del | |
ENST00000636771.1:c.176+50_176+53del | ||
ENST00000587091.5:c.430+50_430+53del | ENSP00000465734.1:n.430+50_430+53del | |
NM_006517.4:c.430+50_430+53del | NP_006508.2:n.430+50_430+53del | |
XM_005262294.1:c.430+50_430+53del | XP_005262351.1:n.430+50_430+53del | |
XM_011531015.1:c.430+50_430+53del | XP_011529317.1:n.430+50_430+53del | |
NM_006517.5:c.430+50_430+53del MANE Select | NP_006508.2:n.430+50_430+53del |