HGVS | Genome Assembly |
---|---|
NC_000016.10:g.172978dup , CM000678.2:g.172978dup | GRCh38 |
NC_000016.9:g.222977dup , CM000678.1:g.222977dup | GRCh37 |
NC_000016.8:g.162977dup | NCBI36 |
NG_000006.1:g.33841dup | |
NG_059186.1:g.1328dup | |
NG_059271.1:g.5132dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251595.11:c.66dup MANE Select | ENSP00000251595.6:p.Gly23TrpfsTer? | |
ENST00000251595.10:c.66dup | ENSP00000251595.6:p.Gly23TrpfsTer? | |
ENST00000397806.1:c.-2+20dup | ENSP00000380908.1:n.-2+20dup | |
ENST00000482565.1:n.85dup | ||
ENST00000484216.1:n.35dup | ||
NM_000517.4:c.66dup | NP_000508.1:p.Gly23TrpfsTer? | |
NM_000517.6:c.66dup MANE Select | NP_000508.1:p.Gly23TrpfsTer? |