Linked Data
ClinVar Variation Id:
210427
ClinVar RCV Id:
RCV000192361
dbSNP Id:
rs797045356
MyVariant Identifiers:
chrX:g.77268608_77268610delinsT (hg19)
chrX:g.78013111_78013113delinsT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78013111_78013113delinsT , CM000685.2:g.78013111_78013113delinsT | GRCh38 |
| NC_000023.10:g.77268608_77268610delinsT , CM000685.1:g.77268608_77268610delinsT | GRCh37 |
| NC_000023.9:g.77155264_77155266delinsT | NCBI36 |
| NG_013224.2:g.107415_107417delinsT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.2435_2436+1delinsT (ATP7A) | ||
| ENST00000682475.1:n.823+1437_823+1439delinsT (ATP7A) | ||
| ENST00000685264.1:c.2405_2406+1delinsT (ATP7A) | ||
| ENST00000686033.1:c.2405_2406+1delinsT (ATP7A) | ||
| ENST00000686133.1:c.2405_2406+1delinsT (ATP7A) | ||
| ENST00000686255.1:n.1436_1437+1delinsT (ATP7A) | ||
| ENST00000686480.1:c.2172+1437_2172+1439delinsT (ATP7A) | ENSP00000508978.1:n.2172+1437_2172+1439delinsT | |
| ENST00000686543.1:c.2172+1437_2172+1439delinsT (ATP7A) | ENSP00000509477.1:n.2172+1437_2172+1439delinsT | |
| ENST00000686688.1:c.2405_2406+1delinsT (ATP7A) | ||
| ENST00000687086.1:c.2405_2406+1delinsT (ATP7A) | ||
| ENST00000688746.1:n.3761_3763delinsT (ATP7A) | ||
| ENST00000689514.1:n.447_448+1delinsT (ATP7A) | ||
| ENST00000689530.1:c.2405_2406+1delinsT (ATP7A) | ||
| ENST00000689649.1:c.2405_2406+1delinsT (ATP7A) | ||
| ENST00000689767.1:c.2498_2499+1delinsT (ATP7A) | ||
| ENST00000689872.1:c.*354_*355+1delinsT (ATP7A) | ||
| ENST00000692908.1:c.2172+1437_2172+1439delinsT (ATP7A) | ENSP00000508627.1:n.2172+1437_2172+1439delinsT | |
| ENST00000693398.1:c.2405_2406+1delinsT (ATP7A) | ||
| ENST00000341514.11:c.2405_2406+1delinsT (ATP7A) | ||
| ENST00000644362.1:c.-19-96756_-19-96754delinsT (PGK1) | ENSP00000496140.1:n.-19-96756_-19-96754delinsT | |
| ENST00000645094.1:c.*2319_*2320+1delinsT (ATP7A) | ||
| ENST00000341514.10:c.2405_2406+1delinsT (ATP7A) | ||
| ENST00000343533.9:c.2172+1437_2172+1439delinsT (ATP7A) | ENSP00000343026.5:n.2172+1437_2172+1439delinsT | |
| ENST00000350425.5:c.*1578_*1579+1delinsT (ATP7A) | ||
| NM_000052.6:c.2405_2406+1delinsT (ATP7A) | ||
| NM_001282224.1:c.2172+1437_2172+1439delinsT (ATP7A) | NP_001269153.1:n.2172+1437_2172+1439delinsT | |
| NR_104109.1:n.322-18289_322-18287delinsT (ATP7A) | ||
| NM_000052.7:c.2405_2406+1delinsT (ATP7A) | ||
| NR_104109.2:n.285-18289_285-18287delinsT (ATP7A) | ||
| NM_001282224.2:c.2172+1437_2172+1439delinsT (ATP7A) | NP_001269153.1:n.2172+1437_2172+1439delinsT |