HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186085868_186085882del , CM000666.2:g.186085868_186085882del | GRCh38 |
NC_000004.11:g.187007022_187007036del , CM000666.1:g.187007022_187007036del | GRCh37 |
NC_000004.10:g.187244016_187244030del | NCBI36 |
NG_007278.1:g.21714_21728del , LRG_117:g.21714_21728del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698352.1:c.*3262_*3276del | ENSP00000513675.1:n.*3262_*3276del | |
ENST00000698353.1:n.3585_3599del | ||
ENST00000698354.1:c.*995_*1009del | ENSP00000513676.1:n.*995_*1009del | |
ENST00000296795.8:c.*995_*1009del MANE Select | ENSP00000296795.3:n.*995_*1009del | |
ENST00000296795.7:c.*995_*1009del | ENSP00000296795.2:n.*995_*1009del | |
NM_003265.3:c.*995_*1009del MANE Select | NP_003256.1:n.*995_*1009del |