HGVS | Genome Assembly |
---|---|
NC_000016.10:g.177116_177136dup , CM000678.2:g.177116_177136dup | GRCh38 |
NC_000016.9:g.227115_227135dup , CM000678.1:g.227115_227135dup | GRCh37 |
NC_000016.8:g.167115_167135dup | NCBI36 |
NG_000006.1:g.37979_37999dup | |
NG_059186.1:g.5466_5486dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000320868.9:c.283_300+3dup | ||
ENST00000397797.1:c.187_204+3dup | ||
ENST00000472694.1:n.419_436+3dup | ||
ENST00000487791.1:n.252_272dup | ||
NM_000558.4:c.283_300+3dup | ||
NM_000558.5:c.283_300+3dup |