|
ENST00000343533.10:c.2864_2866delinsTTG
(ATP7A)
|
ENSP00000343026.6:p.Ile955=
|
|
|
ENST00000682475.1:n.1251_1253delinsTTG
(ATP7A)
|
|
|
|
ENST00000685033.1:c.375+599_375+601delinsTTG
(ATP7A)
|
ENSP00000509269.1:n.375+599_375+601delinsTTG
|
|
|
ENST00000685264.1:c.2834_2836delinsTTG
(ATP7A)
|
ENSP00000510136.1:p.Ile945=
|
|
|
ENST00000686033.1:c.2834_2836delinsTTG
(ATP7A)
|
ENSP00000510693.1:p.Ile945=
|
|
|
ENST00000686133.1:c.2834_2836delinsTTG
(ATP7A)
|
ENSP00000509233.1:p.Ile945=
|
|
|
ENST00000686255.1:n.1865_1867delinsTTG
(ATP7A)
|
|
|
|
ENST00000686543.1:c.2600_2602delinsTTG
(ATP7A)
|
ENSP00000509477.1:p.Ile867=
|
|
|
ENST00000687086.1:c.2834_2836delinsTTG
(ATP7A)
|
ENSP00000509566.1:p.Ile945=
|
|
|
ENST00000689514.1:n.876_878delinsTTG
(ATP7A)
|
|
|
|
ENST00000689530.1:c.2834_2836delinsTTG
(ATP7A)
|
ENSP00000509707.1:p.Ile945=
|
|
|
ENST00000689767.1:c.2927_2929delinsTTG
(ATP7A)
|
ENSP00000509406.1:p.Ile976=
|
|
|
ENST00000692908.1:c.2600_2602delinsTTG
(ATP7A)
|
ENSP00000508627.1:p.Ile867=
|
|
|
ENST00000341514.11:c.2834_2836delinsTTG
(ATP7A)
MANE Select
|
ENSP00000345728.6:p.Ile945=
|
|
|
ENST00000644362.1:c.-19-88870_-19-88868delinsTTG
(PGK1)
|
ENSP00000496140.1:n.-19-88870_-19-88868delinsTTG
|
|
|
ENST00000645094.1:c.*2748_*2750delinsTTG
(ATP7A)
|
ENSP00000493605.1:n.*2748_*2750delinsTTG
|
|
|
ENST00000341514.10:c.2834_2836delinsTTG
(ATP7A)
|
ENSP00000345728.6:p.Ile945=
|
|
|
ENST00000343533.9:c.2600_2602delinsTTG
(ATP7A)
|
ENSP00000343026.5:p.Ile867=
|
|
|
ENST00000350425.5:c.*2007_*2009delinsTTG
(ATP7A)
|
ENSP00000343678.5:n.*2007_*2009delinsTTG
|
|
|
NM_000052.6:c.2834_2836delinsTTG
(ATP7A)
|
NP_000043.4:p.Ile945=
|
|
|
NM_001282224.1:c.2600_2602delinsTTG
(ATP7A)
|
NP_001269153.1:p.Ile867=
|
|
|
NR_104109.1:n.322-10403_322-10401delinsTTG
(ATP7A)
|
|
|
|
NM_000052.7:c.2834_2836delinsTTG
(ATP7A)
MANE Select
|
NP_000043.4:p.Ile945=
|
|
|
NR_104109.2:n.285-10403_285-10401delinsTTG
(ATP7A)
|
|
|
|
NM_001282224.2:c.2600_2602delinsTTG
(ATP7A)
|
NP_001269153.1:p.Ile867=
|
|
