HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186085843_186085845del , CM000666.2:g.186085843_186085845del | GRCh38 |
NC_000004.11:g.187006997_187006999del , CM000666.1:g.187006997_187006999del | GRCh37 |
NC_000004.10:g.187243991_187243993del | NCBI36 |
NG_007278.1:g.21689_21691del , LRG_117:g.21689_21691del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698352.1:c.*3237_*3239del | ENSP00000513675.1:n.*3237_*3239del | |
ENST00000698353.1:n.3560_3562del | ||
ENST00000698354.1:c.*970_*972del | ENSP00000513676.1:n.*970_*972del | |
ENST00000296795.8:c.*970_*972del MANE Select | ENSP00000296795.3:n.*970_*972del | |
ENST00000296795.7:c.*970_*972del | ENSP00000296795.2:n.*970_*972del | |
NM_003265.3:c.*970_*972del MANE Select | NP_003256.1:n.*970_*972del |