HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186085703_186085705del , CM000666.2:g.186085703_186085705del | GRCh38 |
NC_000004.11:g.187006857_187006859del , CM000666.1:g.187006857_187006859del | GRCh37 |
NC_000004.10:g.187243851_187243853del | NCBI36 |
NG_007278.1:g.21549_21551del , LRG_117:g.21549_21551del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000698352.1:c.*3097_*3099del | ENSP00000513675.1:n.*3097_*3099del | |
ENST00000698353.1:n.3420_3422del | ||
ENST00000698354.1:c.*830_*832del | ENSP00000513676.1:n.*830_*832del | |
ENST00000296795.8:c.*830_*832del MANE Select | ENSP00000296795.3:n.*830_*832del | |
ENST00000296795.7:c.*830_*832del | ENSP00000296795.2:n.*830_*832del | |
NM_003265.3:c.*830_*832del MANE Select | NP_003256.1:n.*830_*832del |