ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78011480_78011510dup , CM000685.2:g.78011480_78011510dup | GRCh38 |
| NC_000023.10:g.77266977_77267007dup , CM000685.1:g.77266977_77267007dup | GRCh37 |
| NC_000023.9:g.77153633_77153663dup | NCBI36 |
| NG_013224.2:g.105784_105814dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.2008_2038dup (ATP7A) | ENSP00000343026.6:p.Tyr680PhefsTer25 | |
| ENST00000682475.1:n.629_659dup (ATP7A) | ||
| ENST00000685264.1:c.1978_2008dup (ATP7A) | ENSP00000510136.1:p.Tyr670PhefsTer25 | |
| ENST00000686033.1:c.1978_2008dup (ATP7A) | ENSP00000510693.1:p.Tyr670PhefsTer25 | |
| ENST00000686133.1:c.1978_2008dup (ATP7A) | ENSP00000509233.1:p.Tyr670PhefsTer25 | |
| ENST00000686255.1:n.1009_1039dup (ATP7A) | ||
| ENST00000686480.1:c.1978_2008dup (ATP7A) | ENSP00000508978.1:p.Tyr670PhefsTer25 | |
| ENST00000686515.1:n.2118_2148dup (ATP7A) | ||
| ENST00000686543.1:c.1978_2008dup (ATP7A) | ENSP00000509477.1:p.Tyr670PhefsTer25 | |
| ENST00000686688.1:c.1978_2008dup (ATP7A) | ENSP00000509416.1:p.Tyr670PhefsTer25 | |
| ENST00000686999.1:n.2289_2319dup (ATP7A) | ||
| ENST00000687086.1:c.1978_2008dup (ATP7A) | ENSP00000509566.1:p.Tyr670PhefsTer25 | |
| ENST00000687628.1:n.4187_4217dup (ATP7A) | ||
| ENST00000688746.1:n.2130_2160dup (ATP7A) | ||
| ENST00000689514.1:n.20_50dup (ATP7A) | ||
| ENST00000689530.1:c.1978_2008dup (ATP7A) | ENSP00000509707.1:p.Tyr670PhefsTer25 | |
| ENST00000689649.1:c.1978_2008dup (ATP7A) | ENSP00000509277.1:p.Tyr670PhefsTer25 | |
| ENST00000689767.1:c.2071_2101dup (ATP7A) | ENSP00000509406.1:p.Tyr701PhefsTer25 | |
| ENST00000689872.1:c.1901_1931dup (ATP7A) | ENSP00000509373.1:p.Tyr645SerfsTer5 | |
| ENST00000692110.1:c.1894_1924dup (ATP7A) | ENSP00000509366.1:p.Tyr642PhefsTer25 | |
| ENST00000692908.1:c.1978_2008dup (ATP7A) | ENSP00000508627.1:p.Tyr670PhefsTer25 | |
| ENST00000693398.1:c.1978_2008dup (ATP7A) | ENSP00000510089.1:p.Tyr670PhefsTer25 | |
| ENST00000341514.11:c.1978_2008dup (ATP7A) MANE Select | ENSP00000345728.6:p.Tyr670PhefsTer25 | |
| ENST00000644362.1:c.-19-98387_-19-98357dup (PGK1) | ENSP00000496140.1:n.-19-98387_-19-98357dup | |
| ENST00000645094.1:c.*1892_*1922dup (ATP7A) | ENSP00000493605.1:n.*1892_*1922dup | |
| ENST00000341514.10:c.1978_2008dup (ATP7A) | ENSP00000345728.6:p.Tyr670PhefsTer25 | |
| ENST00000343533.9:c.1978_2008dup (ATP7A) | ENSP00000343026.5:p.Tyr670PhefsTer25 | |
| ENST00000350425.5:c.*1151_*1181dup (ATP7A) | ENSP00000343678.5:n.*1151_*1181dup | |
| NM_000052.6:c.1978_2008dup (ATP7A) | NP_000043.4:p.Tyr670PhefsTer25 | |
| NM_001282224.1:c.1978_2008dup (ATP7A) | NP_001269153.1:p.Tyr670PhefsTer25 | |
| NR_104109.1:n.322-19920_322-19890dup (ATP7A) | ||
| NM_000052.7:c.1978_2008dup (ATP7A) MANE Select | NP_000043.4:p.Tyr670PhefsTer25 | |
| NR_104109.2:n.285-19920_285-19890dup (ATP7A) | ||
| NM_001282224.2:c.1978_2008dup (ATP7A) | NP_001269153.1:p.Tyr670PhefsTer25 |