Linked Data
ClinVar Variation Id:
210422
ClinVar RCV Id:
RCV000195170
dbSNP Id:
rs797045352
MyVariant Identifiers:
chrX:g.77268451_77268454dupATTG (hg19)
chrX:g.78012954_78012957dupATTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78012954_78012957dup , CM000685.2:g.78012954_78012957dup | GRCh38 |
| NC_000023.10:g.77268451_77268454dup , CM000685.1:g.77268451_77268454dup | GRCh37 |
| NC_000023.9:g.77155107_77155110dup | NCBI36 |
| NG_013224.2:g.107258_107261dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343533.10:c.2278_2281dup (ATP7A) | ENSP00000343026.6:p.Val761AspfsTer22 | |
| ENST00000682475.1:n.823+1280_823+1283dup (ATP7A) | ||
| ENST00000685264.1:c.2248_2251dup (ATP7A) | ENSP00000510136.1:p.Val751AspfsTer22 | |
| ENST00000686033.1:c.2248_2251dup (ATP7A) | ENSP00000510693.1:p.Val751AspfsTer22 | |
| ENST00000686133.1:c.2248_2251dup (ATP7A) | ENSP00000509233.1:p.Val751AspfsTer22 | |
| ENST00000686255.1:n.1279_1282dup (ATP7A) | ||
| ENST00000686480.1:c.2172+1280_2172+1283dup (ATP7A) | ENSP00000508978.1:n.2172+1280_2172+1283du... | |
| ENST00000686543.1:c.2172+1280_2172+1283dup (ATP7A) | ENSP00000509477.1:n.2172+1280_2172+1283du... | |
| ENST00000686688.1:c.2248_2251dup (ATP7A) | ENSP00000509416.1:p.Val751AspfsTer22 | |
| ENST00000687086.1:c.2248_2251dup (ATP7A) | ENSP00000509566.1:p.Val751AspfsTer22 | |
| ENST00000688746.1:n.3604_3607dup (ATP7A) | ||
| ENST00000689514.1:n.290_293dup (ATP7A) | ||
| ENST00000689530.1:c.2248_2251dup (ATP7A) | ENSP00000509707.1:p.Val751AspfsTer22 | |
| ENST00000689649.1:c.2248_2251dup (ATP7A) | ENSP00000509277.1:p.Val751AspfsTer22 | |
| ENST00000689767.1:c.2341_2344dup (ATP7A) | ENSP00000509406.1:p.Val782AspfsTer22 | |
| ENST00000689872.1:c.*197_*200dup (ATP7A) | ENSP00000509373.1:n.*197_*200dup | |
| ENST00000692908.1:c.2172+1280_2172+1283dup (ATP7A) | ENSP00000508627.1:n.2172+1280_2172+1283du... | |
| ENST00000693398.1:c.2248_2251dup (ATP7A) | ENSP00000510089.1:p.Val751AspfsTer22 | |
| ENST00000341514.11:c.2248_2251dup (ATP7A) MANE Select | ENSP00000345728.6:p.Val751AspfsTer22 | |
| ENST00000644362.1:c.-19-96913_-19-96910dup (PGK1) | ENSP00000496140.1:n.-19-96913_-19-96910du... | |
| ENST00000645094.1:c.*2162_*2165dup (ATP7A) | ENSP00000493605.1:n.*2162_*2165dup | |
| ENST00000341514.10:c.2248_2251dup (ATP7A) | ENSP00000345728.6:p.Val751AspfsTer22 | |
| ENST00000343533.9:c.2172+1280_2172+1283dup (ATP7A) | ENSP00000343026.5:n.2172+1280_2172+1283du... | |
| ENST00000350425.5:c.*1421_*1424dup (ATP7A) | ENSP00000343678.5:n.*1421_*1424dup | |
| NM_000052.6:c.2248_2251dup (ATP7A) | NP_000043.4:p.Val751AspfsTer22 | |
| NM_001282224.1:c.2172+1280_2172+1283dup (ATP7A) | NP_001269153.1:n.2172+1280_2172+1283dup | |
| NR_104109.1:n.322-18446_322-18443dup (ATP7A) | ||
| NM_000052.7:c.2248_2251dup (ATP7A) MANE Select | NP_000043.4:p.Val751AspfsTer22 | |
| NR_104109.2:n.285-18446_285-18443dup (ATP7A) | ||
| NM_001282224.2:c.2172+1280_2172+1283dup (ATP7A) | NP_001269153.1:n.2172+1280_2172+1283dup |