Canonical Allele Identifier: CA277299

Linked Data

ClinVar Variation Id: 210426
ClinVar RCV Id: RCV000194331
dbSNP Id: rs797045355

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78013101_78013111delinsAGCATC , CM000685.2:g.78013101_78013111delinsAGCATC GRCh38
NC_000023.10:g.77268598_77268608delinsAGCATC , CM000685.1:g.77268598_77268608delinsAGCATC GRCh37
NC_000023.9:g.77155254_77155264delinsAGCATC NCBI36
NG_013224.2:g.107405_107415delinsAGCATC

Transcript Alleles

HGVS Amino-acid change
ENST00000343533.10:c.2425_2435delinsAGCATC (ATP7A) ENSP00000343026.6:p.His809SerfsTer26
ENST00000682475.1:n.823+1427_823+1437delinsAGCATC (ATP7A)
ENST00000685264.1:c.2395_2405delinsAGCATC (ATP7A) ENSP00000510136.1:p.His799SerfsTer26
ENST00000686033.1:c.2395_2405delinsAGCATC (ATP7A) ENSP00000510693.1:p.His799SerfsTer26
ENST00000686133.1:c.2395_2405delinsAGCATC (ATP7A) ENSP00000509233.1:p.His799SerfsTer26
ENST00000686255.1:n.1426_1436delinsAGCATC (ATP7A)
ENST00000686480.1:c.2172+1427_2172+1437delinsAGCATC (ATP7A) ENSP00000508978.1:n.2172+1427_2172+1437de...
ENST00000686543.1:c.2172+1427_2172+1437delinsAGCATC (ATP7A) ENSP00000509477.1:n.2172+1427_2172+1437de...
ENST00000686688.1:c.2395_2405delinsAGCATC (ATP7A) ENSP00000509416.1:p.His799SerfsTer26
ENST00000687086.1:c.2395_2405delinsAGCATC (ATP7A) ENSP00000509566.1:p.His799SerfsTer26
ENST00000688746.1:n.3751_3761delinsAGCATC (ATP7A)
ENST00000689514.1:n.437_447delinsAGCATC (ATP7A)
ENST00000689530.1:c.2395_2405delinsAGCATC (ATP7A) ENSP00000509707.1:p.His799SerfsTer26
ENST00000689649.1:c.2395_2405delinsAGCATC (ATP7A) ENSP00000509277.1:p.His799SerfsTer26
ENST00000689767.1:c.2488_2498delinsAGCATC (ATP7A) ENSP00000509406.1:p.His830SerfsTer26
ENST00000689872.1:c.*344_*354delinsAGCATC (ATP7A) ENSP00000509373.1:n.*344_*354delinsAGCATC...
ENST00000692908.1:c.2172+1427_2172+1437delinsAGCATC (ATP7A) ENSP00000508627.1:n.2172+1427_2172+1437de...
ENST00000693398.1:c.2395_2405delinsAGCATC (ATP7A) ENSP00000510089.1:p.His799SerfsTer26
ENST00000341514.11:c.2395_2405delinsAGCATC (ATP7A) MANE Select ENSP00000345728.6:p.His799SerfsTer26
ENST00000644362.1:c.-19-96766_-19-96756delinsAGCATC (PGK1) ENSP00000496140.1:n.-19-96766_-19-96756de...
ENST00000645094.1:c.*2309_*2319delinsAGCATC (ATP7A) ENSP00000493605.1:n.*2309_*2319delinsAGCA...
ENST00000341514.10:c.2395_2405delinsAGCATC (ATP7A) ENSP00000345728.6:p.His799SerfsTer26
ENST00000343533.9:c.2172+1427_2172+1437delinsAGCATC (ATP7A) ENSP00000343026.5:n.2172+1427_2172+1437de...
ENST00000350425.5:c.*1568_*1578delinsAGCATC (ATP7A) ENSP00000343678.5:n.*1568_*1578delinsAGCA...
NM_000052.6:c.2395_2405delinsAGCATC (ATP7A) NP_000043.4:p.His799SerfsTer26
NM_001282224.1:c.2172+1427_2172+1437delinsAGCATC (ATP7A) NP_001269153.1:n.2172+1427_2172+1437delin...
NR_104109.1:n.322-18299_322-18289delinsAGCATC (ATP7A)
NM_000052.7:c.2395_2405delinsAGCATC (ATP7A) MANE Select NP_000043.4:p.His799SerfsTer26
NR_104109.2:n.285-18299_285-18289delinsAGCATC (ATP7A)
NM_001282224.2:c.2172+1427_2172+1437delinsAGCATC (ATP7A) NP_001269153.1:n.2172+1427_2172+1437delin...