HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5226502_5226505dup , CM000673.2:g.5226502_5226505dup | GRCh38 |
NC_000011.9:g.5247732_5247735dup , CM000673.1:g.5247732_5247735dup | GRCh37 |
NC_000011.8:g.5204308_5204311dup | NCBI36 |
NG_000007.3:g.71111_71114dup | |
NG_059281.1:g.5567_5570dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647020.1:c.315+72_315+75dup | ENSP00000494175.1:n.315+72_315+75dup | |
ENST00000335295.4:c.315+72_315+75dup MANE Select | ENSP00000333994.3:n.315+72_315+75dup | |
ENST00000475226.1:n.247+72_247+75dup | ||
ENST00000485743.1:n.438_441dup | ||
ENST00000633227.1:c.*131+72_*131+75dup | ENSP00000488004.1:n.*131+72_*131+75dup | |
NM_000518.4:c.315+72_315+75dup | NP_000509.1:n.315+72_315+75dup | |
NM_000518.5:c.315+72_315+75dup MANE Select | NP_000509.1:n.315+72_315+75dup |