ENST00000343533.10:c.1954_1955del
(ATP7A)
|
ENSP00000343026.6:p.Asp652SerfsTer2
|
|
ENST00000682475.1:n.379_380del
(ATP7A)
|
|
|
ENST00000685264.1:c.1924_1925del
(ATP7A)
|
ENSP00000510136.1:p.Asp642SerfsTer2
|
|
ENST00000686033.1:c.1924_1925del
(ATP7A)
|
ENSP00000510693.1:p.Asp642SerfsTer2
|
|
ENST00000686133.1:c.1924_1925del
(ATP7A)
|
ENSP00000509233.1:p.Asp642SerfsTer2
|
|
ENST00000686255.1:n.759_760del
(ATP7A)
|
|
|
ENST00000686480.1:c.1924_1925del
(ATP7A)
|
ENSP00000508978.1:p.Asp642SerfsTer2
|
|
ENST00000686515.1:n.2064_2065del
(ATP7A)
|
|
|
ENST00000686543.1:c.1924_1925del
(ATP7A)
|
ENSP00000509477.1:p.Asp642SerfsTer2
|
|
ENST00000686688.1:c.1924_1925del
(ATP7A)
|
ENSP00000509416.1:p.Asp642SerfsTer2
|
|
ENST00000686999.1:n.2235_2236del
(ATP7A)
|
|
|
ENST00000687086.1:c.1924_1925del
(ATP7A)
|
ENSP00000509566.1:p.Asp642SerfsTer2
|
|
ENST00000687628.1:n.3937_3938del
(ATP7A)
|
|
|
ENST00000688746.1:n.2076_2077del
(ATP7A)
|
|
|
ENST00000689530.1:c.1924_1925del
(ATP7A)
|
ENSP00000509707.1:p.Asp642SerfsTer2
|
|
ENST00000689649.1:c.1924_1925del
(ATP7A)
|
ENSP00000509277.1:p.Asp642SerfsTer2
|
|
ENST00000689767.1:c.2017_2018del
(ATP7A)
|
ENSP00000509406.1:p.Asp673SerfsTer2
|
|
ENST00000689872.1:c.1870-219_1870-218del
(ATP7A)
|
ENSP00000509373.1:n.1870-219_1870-218del
|
|
ENST00000692110.1:c.1840_1841del
(ATP7A)
|
ENSP00000509366.1:p.Asp614SerfsTer2
|
|
ENST00000692908.1:c.1924_1925del
(ATP7A)
|
ENSP00000508627.1:p.Asp642SerfsTer2
|
|
ENST00000693398.1:c.1924_1925del
(ATP7A)
|
ENSP00000510089.1:p.Asp642SerfsTer2
|
|
ENST00000341514.11:c.1924_1925del
(ATP7A)
MANE Select
|
ENSP00000345728.6:p.Asp642SerfsTer2
|
|
ENST00000644362.1:c.-19-98637_-19-98636del
(PGK1)
|
ENSP00000496140.1:n.-19-98637_-19-98636del
|
|
ENST00000645094.1:c.*1838_*1839del
(ATP7A)
|
ENSP00000493605.1:n.*1838_*1839del
|
|
ENST00000341514.10:c.1924_1925del
(ATP7A)
|
ENSP00000345728.6:p.Asp642SerfsTer2
|
|
ENST00000343533.9:c.1924_1925del
(ATP7A)
|
ENSP00000343026.5:p.Asp642SerfsTer2
|
|
ENST00000350425.5:c.*1097_*1098del
(ATP7A)
|
ENSP00000343678.5:n.*1097_*1098del
|
|
NM_000052.6:c.1924_1925del
(ATP7A)
|
NP_000043.4:p.Asp642SerfsTer2
|
|
NM_001282224.1:c.1924_1925del
(ATP7A)
|
NP_001269153.1:p.Asp642SerfsTer2
|
|
NR_104109.1:n.322-20170_322-20169del
(ATP7A)
|
|
|
NM_000052.7:c.1924_1925del
(ATP7A)
MANE Select
|
NP_000043.4:p.Asp642SerfsTer2
|
|
NR_104109.2:n.285-20170_285-20169del
(ATP7A)
|
|
|
NM_001282224.2:c.1924_1925del
(ATP7A)
|
NP_001269153.1:p.Asp642SerfsTer2
|
|