ENST00000343533.10:c.3331del
(ATP7A)
|
ENSP00000343026.6:p.Asp1111ThrfsTer9
|
|
ENST00000682475.1:n.1718del
(ATP7A)
|
|
|
ENST00000685033.1:c.565del
(ATP7A)
|
ENSP00000509269.1:p.Asp189ThrfsTer9
|
|
ENST00000685264.1:c.3301del
(ATP7A)
|
ENSP00000510136.1:p.Asp1101ThrfsTer9
|
|
ENST00000686033.1:c.3106del
(ATP7A)
|
ENSP00000510693.1:p.Asp1036ThrfsTer9
|
|
ENST00000686133.1:c.3301del
(ATP7A)
|
ENSP00000509233.1:p.Asp1101ThrfsTer9
|
|
ENST00000686255.1:n.2332del
(ATP7A)
|
|
|
ENST00000686543.1:c.3067del
(ATP7A)
|
ENSP00000509477.1:p.Asp1023ThrfsTer9
|
|
ENST00000687086.1:c.3301del
(ATP7A)
|
ENSP00000509566.1:p.Asp1101ThrfsTer9
|
|
ENST00000689514.1:n.1343del
(ATP7A)
|
|
|
ENST00000689767.1:c.3394del
(ATP7A)
|
ENSP00000509406.1:p.Asp1132ThrfsTer9
|
|
ENST00000692908.1:c.3067del
(ATP7A)
|
ENSP00000508627.1:p.Asp1023ThrfsTer9
|
|
ENST00000341514.11:c.3301del
(ATP7A)
MANE Select
|
ENSP00000345728.6:p.Asp1101ThrfsTer9
|
|
ENST00000644362.1:c.-19-76256del
(PGK1)
|
ENSP00000496140.1:n.-19-76256del
|
|
ENST00000645094.1:c.*3215del
(ATP7A)
|
ENSP00000493605.1:n.*3215del
|
|
ENST00000341514.10:c.3301del
(ATP7A)
|
ENSP00000345728.6:p.Asp1101ThrfsTer9
|
|
ENST00000343533.9:c.3067del
(ATP7A)
|
ENSP00000343026.5:p.Asp1023ThrfsTer9
|
|
ENST00000350425.5:c.*2474del
(ATP7A)
|
ENSP00000343678.5:n.*2474del
|
|
NM_000052.6:c.3301del
(ATP7A)
|
NP_000043.4:p.Asp1101ThrfsTer9
|
|
NM_001282224.1:c.3067del
(ATP7A)
|
NP_001269153.1:p.Asp1023ThrfsTer9
|
|
NR_104109.1:n.511del
(ATP7A)
|
|
|
NM_000052.7:c.3301del
(ATP7A)
MANE Select
|
NP_000043.4:p.Asp1101ThrfsTer9
|
|
NR_104109.2:n.474del
(ATP7A)
|
|
|
NM_001282224.2:c.3067del
(ATP7A)
|
NP_001269153.1:p.Asp1023ThrfsTer9
|
|