HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2340773_2340790dup , CM000678.2:g.2340773_2340790dup | GRCh38 |
NC_000016.9:g.2390774_2390791dup , CM000678.1:g.2390774_2390791dup | GRCh37 |
NC_000016.8:g.2330775_2330792dup | NCBI36 |
NG_011790.1:g.4958_4975dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000640929.1:n.42+1442_42+1459dup | ||
ENST00000512848.5:n.182+1442_182+1459dup |