HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173368dup , CM000678.2:g.173368dup | GRCh38 |
NC_000016.9:g.223367dup , CM000678.1:g.223367dup | GRCh37 |
NC_000016.8:g.163367dup | NCBI36 |
NG_000006.1:g.34231dup | |
NG_059186.1:g.1718dup | |
NG_059271.1:g.5522dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251595.11:c.300+39dup MANE Select | ENSP00000251595.6:n.300+39dup | |
ENST00000251595.10:c.300+39dup | ENSP00000251595.6:n.300+39dup | |
ENST00000397806.1:c.204+39dup | ENSP00000380908.1:n.204+39dup | |
ENST00000482565.1:n.436+39dup | ||
ENST00000484216.1:n.308dup | ||
NM_000517.4:c.300+39dup | NP_000508.1:n.300+39dup | |
NM_000517.6:c.300+39dup MANE Select | NP_000508.1:n.300+39dup |