HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186085456_186085459del , CM000666.2:g.186085456_186085459del | GRCh38 |
NC_000004.11:g.187006610_187006613del , CM000666.1:g.187006610_187006613del | GRCh37 |
NC_000004.10:g.187243604_187243607del | NCBI36 |
NG_007278.1:g.21302_21305del , LRG_117:g.21302_21305del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698352.1:c.*2850_*2853del | ENSP00000513675.1:n.*2850_*2853del | |
ENST00000698353.1:n.3173_3176del | ||
ENST00000698354.1:c.*583_*586del | ENSP00000513676.1:n.*583_*586del | |
ENST00000296795.8:c.*583_*586del MANE Select | ENSP00000296795.3:n.*583_*586del | |
ENST00000296795.7:c.*583_*586del | ENSP00000296795.2:n.*583_*586del | |
NM_003265.3:c.*583_*586del MANE Select | NP_003256.1:n.*583_*586del |