HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186085846_186085847del , CM000666.2:g.186085846_186085847del | GRCh38 |
NC_000004.11:g.187007000_187007001del , CM000666.1:g.187007000_187007001del | GRCh37 |
NC_000004.10:g.187243994_187243995del | NCBI36 |
NG_007278.1:g.21692_21693del , LRG_117:g.21692_21693del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698352.1:c.*3240_*3241del | ENSP00000513675.1:n.*3240_*3241del | |
ENST00000698353.1:n.3563_3564del | ||
ENST00000698354.1:c.*973_*974del | ENSP00000513676.1:n.*973_*974del | |
ENST00000296795.8:c.*973_*974del MANE Select | ENSP00000296795.3:n.*973_*974del | |
ENST00000296795.7:c.*973_*974del | ENSP00000296795.2:n.*973_*974del | |
NM_003265.3:c.*973_*974del MANE Select | NP_003256.1:n.*973_*974del |