HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186086067_186086069del , CM000666.2:g.186086067_186086069del | GRCh38 |
NC_000004.11:g.187007221_187007223del , CM000666.1:g.187007221_187007223del | GRCh37 |
NC_000004.10:g.187244215_187244217del | NCBI36 |
NG_007278.1:g.21913_21915del , LRG_117:g.21913_21915del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698352.1:c.*3461_*3463del | ENSP00000513675.1:n.*3461_*3463del | |
ENST00000698353.1:n.3784_3786del | ||
ENST00000698354.1:c.*1194_*1196del | ENSP00000513676.1:n.*1194_*1196del | |
ENST00000296795.8:c.*1194_*1196del MANE Select | ENSP00000296795.3:n.*1194_*1196del | |
ENST00000296795.7:c.*1194_*1196del | ENSP00000296795.2:n.*1194_*1196del | |
NM_003265.3:c.*1194_*1196del MANE Select | NP_003256.1:n.*1194_*1196del |