HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5226596_5226597dup , CM000673.2:g.5226596_5226597dup | GRCh38 |
NC_000011.9:g.5247826_5247827dup , CM000673.1:g.5247826_5247827dup | GRCh37 |
NC_000011.8:g.5204402_5204403dup | NCBI36 |
NG_000007.3:g.71020_71021dup | |
NG_059281.1:g.5476_5477dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647020.1:c.296_297dup | ENSP00000494175.1:p.Asp100TrpfsTer? | |
ENST00000335295.4:c.296_297dup MANE Select | ENSP00000333994.3:p.Asp100TrpfsTer? | |
ENST00000475226.1:n.228_229dup | ||
ENST00000485743.1:n.347_348dup | ||
ENST00000633227.1:c.*112_*113dup | ENSP00000488004.1:n.*112_*113dup | |
NM_000518.4:c.296_297dup | NP_000509.1:p.Asp100TrpfsTer? | |
NM_000518.5:c.296_297dup MANE Select | NP_000509.1:p.Asp100TrpfsTer? |