HGVS | Genome Assembly |
---|---|
NC_000016.10:g.177235_177237dup , CM000678.2:g.177235_177237dup | GRCh38 |
NC_000016.9:g.227234_227236dup , CM000678.1:g.227234_227236dup | GRCh37 |
NC_000016.8:g.167234_167236dup | NCBI36 |
NG_000006.1:g.38098_38100dup | |
NG_059186.1:g.5585_5587dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000320868.9:c.301-48_301-46dup MANE Select | ENSP00000322421.5:n.301-48_301-46dup | |
ENST00000397797.1:c.205-48_205-46dup | ENSP00000380899.1:n.205-48_205-46dup | |
ENST00000472694.1:n.437-48_437-46dup | ||
ENST00000487791.1:n.371_373dup | ||
NM_000558.4:c.301-48_301-46dup | NP_000549.1:n.301-48_301-46dup | |
NM_000558.5:c.301-48_301-46dup MANE Select | NP_000549.1:n.301-48_301-46dup |