HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186085151_186085159del , CM000666.2:g.186085151_186085159del | GRCh38 |
NC_000004.11:g.187006305_187006313del , CM000666.1:g.187006305_187006313del | GRCh37 |
NC_000004.10:g.187243299_187243307del | NCBI36 |
NG_007278.1:g.20997_21005del , LRG_117:g.20997_21005del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698352.1:c.*2545_*2553del | ENSP00000513675.1:n.*2545_*2553del | |
ENST00000698353.1:n.2868_2876del | ||
ENST00000698354.1:c.*278_*286del | ENSP00000513676.1:n.*278_*286del | |
ENST00000296795.8:c.*278_*286del MANE Select | ENSP00000296795.3:n.*278_*286del | |
ENST00000296795.7:c.*278_*286del | ENSP00000296795.2:n.*278_*286del | |
NM_003265.3:c.*278_*286del MANE Select | NP_003256.1:n.*278_*286del |