Linked Data
ClinVar Variation Id:
1604456
ClinVar RCV Id:
RCV002134651
dbSNP Id:
rs782017566
ExAC:
X:77268623 GGGT / G
gnomAD v2:
X-77268623-GGGT-G
gnomAD v3:
X-78013126-GGGT-G
gnomAD v4:
X-78013126-GGGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78013128_78013130del , CM000685.2:g.78013128_78013130del | GRCh38 |
| NC_000023.10:g.77268625_77268627del , CM000685.1:g.77268625_77268627del | GRCh37 |
| NC_000023.9:g.77155281_77155283del | NCBI36 |
| NG_013224.2:g.107432_107434del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.2436+16_2436+18del (ATP7A) | ENSP00000343026.6:n.2436+16_2436+18del | |
| ENST00000682475.1:n.823+1454_823+1456del (ATP7A) | ||
| ENST00000685264.1:c.2406+16_2406+18del (ATP7A) | ENSP00000510136.1:n.2406+16_2406+18del | |
| ENST00000686033.1:c.2406+16_2406+18del (ATP7A) | ENSP00000510693.1:n.2406+16_2406+18del | |
| ENST00000686133.1:c.2406+16_2406+18del (ATP7A) | ENSP00000509233.1:n.2406+16_2406+18del | |
| ENST00000686255.1:n.1437+16_1437+18del (ATP7A) | ||
| ENST00000686480.1:c.2172+1454_2172+1456del (ATP7A) | ENSP00000508978.1:n.2172+1454_2172+1456del | |
| ENST00000686543.1:c.2172+1454_2172+1456del (ATP7A) | ENSP00000509477.1:n.2172+1454_2172+1456del | |
| ENST00000686688.1:c.2406+16_2406+18del (ATP7A) | ENSP00000509416.1:n.2406+16_2406+18del | |
| ENST00000687086.1:c.2406+16_2406+18del (ATP7A) | ENSP00000509566.1:n.2406+16_2406+18del | |
| ENST00000688746.1:n.3778_3780del (ATP7A) | ||
| ENST00000689514.1:n.448+16_448+18del (ATP7A) | ||
| ENST00000689530.1:c.2406+16_2406+18del (ATP7A) | ENSP00000509707.1:n.2406+16_2406+18del | |
| ENST00000689649.1:c.2406+16_2406+18del (ATP7A) | ENSP00000509277.1:n.2406+16_2406+18del | |
| ENST00000689767.1:c.2499+16_2499+18del (ATP7A) | ENSP00000509406.1:n.2499+16_2499+18del | |
| ENST00000689872.1:c.*355+16_*355+18del (ATP7A) | ENSP00000509373.1:n.*355+16_*355+18del | |
| ENST00000692908.1:c.2172+1454_2172+1456del (ATP7A) | ENSP00000508627.1:n.2172+1454_2172+1456del | |
| ENST00000693398.1:c.2406+16_2406+18del (ATP7A) | ENSP00000510089.1:n.2406+16_2406+18del | |
| ENST00000341514.11:c.2406+16_2406+18del (ATP7A) MANE Select | ENSP00000345728.6:n.2406+16_2406+18del | |
| ENST00000644362.1:c.-19-96739_-19-96737del (PGK1) | ENSP00000496140.1:n.-19-96739_-19-96737del | |
| ENST00000645094.1:c.*2320+16_*2320+18del (ATP7A) | ENSP00000493605.1:n.*2320+16_*2320+18del | |
| ENST00000341514.10:c.2406+16_2406+18del (ATP7A) | ENSP00000345728.6:n.2406+16_2406+18del | |
| ENST00000343533.9:c.2172+1454_2172+1456del (ATP7A) | ENSP00000343026.5:n.2172+1454_2172+1456del | |
| ENST00000350425.5:c.*1579+16_*1579+18del (ATP7A) | ENSP00000343678.5:n.*1579+16_*1579+18del | |
| NM_000052.6:c.2406+16_2406+18del (ATP7A) | NP_000043.4:n.2406+16_2406+18del | |
| NM_001282224.1:c.2172+1454_2172+1456del (ATP7A) | NP_001269153.1:n.2172+1454_2172+1456del | |
| NR_104109.1:n.322-18272_322-18270del (ATP7A) | ||
| NM_000052.7:c.2406+16_2406+18del (ATP7A) MANE Select | NP_000043.4:n.2406+16_2406+18del | |
| NR_104109.2:n.285-18272_285-18270del (ATP7A) | ||
| NM_001282224.2:c.2172+1454_2172+1456del (ATP7A) | NP_001269153.1:n.2172+1454_2172+1456del |