HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2326394_2326397del , CM000678.2:g.2326394_2326397del | GRCh38 |
NC_000016.9:g.2376395_2376398del , CM000678.1:g.2376395_2376398del | GRCh37 |
NC_000016.8:g.2316396_2316399del | NCBI36 |
NG_011790.1:g.19355_19358del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301732.10:c.54+21_54+24del MANE Select | ENSP00000301732.5:n.54+21_54+24del | |
ENST00000301732.9:c.54+21_54+24del | ENSP00000301732.5:n.54+21_54+24del | |
ENST00000382381.7:c.54+21_54+24del | ENSP00000371818.3:n.54+21_54+24del | |
ENST00000563623.5:n.617+21_617+24del | ||
ENST00000567910.1:c.54+21_54+24del | ENSP00000454397.1:n.54+21_54+24del | |
NM_001089.2:c.54+21_54+24del | NP_001080.2:n.54+21_54+24del | |
NM_001089.3:c.54+21_54+24del MANE Select | NP_001080.2:n.54+21_54+24del |