HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173431_173433dup , CM000678.2:g.173431_173433dup | GRCh38 |
NC_000016.9:g.223430_223432dup , CM000678.1:g.223430_223432dup | GRCh37 |
NC_000016.8:g.163430_163432dup | NCBI36 |
NG_000006.1:g.34294_34296dup | |
NG_059186.1:g.1781_1783dup | |
NG_059271.1:g.5585_5587dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000251595.11:c.301-41_301-39dup MANE Select | ENSP00000251595.6:n.301-41_301-39dup | |
ENST00000251595.10:c.301-41_301-39dup | ENSP00000251595.6:n.301-41_301-39dup | |
ENST00000397806.1:c.205-41_205-39dup | ENSP00000380908.1:n.205-41_205-39dup | |
ENST00000482565.1:n.437-41_437-39dup | ||
ENST00000484216.1:n.371_373dup | ||
NM_000517.4:c.301-41_301-39dup | NP_000508.1:n.301-41_301-39dup | |
NM_000517.6:c.301-41_301-39dup MANE Select | NP_000508.1:n.301-41_301-39dup |