Canonical Allele Identifier: CA2580101469

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 1724179
• ClinVar RCV Id: RCV002306734

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78011181_78011182del , CM000685.2:g.78011181_78011182del	GRCh38
NC_000023.10:g.77266678_77266679del , CM000685.1:g.77266678_77266679del	GRCh37
NC_000023.9:g.77153334_77153335del	NCBI36
NG_013224.2:g.105485_105486del

Transcript Alleles

HGVS	Amino-acid change
ENST00000343533.10:c.1905_1906del (ATP7A)	ENSP00000343026.6:p.Gly636PhefsTer2
ENST00000682475.1:n.330_331del (ATP7A)
ENST00000685264.1:c.1875_1876del (ATP7A)	ENSP00000510136.1:p.Gly626PhefsTer2
ENST00000686033.1:c.1875_1876del (ATP7A)	ENSP00000510693.1:p.Gly626PhefsTer2
ENST00000686133.1:c.1875_1876del (ATP7A)	ENSP00000509233.1:p.Gly626PhefsTer2
ENST00000686255.1:n.710_711del (ATP7A)
ENST00000686480.1:c.1875_1876del (ATP7A)	ENSP00000508978.1:p.Gly626PhefsTer2
ENST00000686515.1:n.2015_2016del (ATP7A)
ENST00000686543.1:c.1875_1876del (ATP7A)	ENSP00000509477.1:p.Gly626PhefsTer2
ENST00000686688.1:c.1875_1876del (ATP7A)	ENSP00000509416.1:p.Gly626PhefsTer2
ENST00000686999.1:n.2186_2187del (ATP7A)
ENST00000687086.1:c.1875_1876del (ATP7A)	ENSP00000509566.1:p.Gly626PhefsTer2
ENST00000687628.1:n.3888_3889del (ATP7A)
ENST00000688746.1:n.2027_2028del (ATP7A)
ENST00000689530.1:c.1875_1876del (ATP7A)	ENSP00000509707.1:p.Gly626PhefsTer2
ENST00000689649.1:c.1875_1876del (ATP7A)	ENSP00000509277.1:p.Gly626PhefsTer2
ENST00000689767.1:c.1968_1969del (ATP7A)	ENSP00000509406.1:p.Gly657PhefsTer2
ENST00000689872.1:c.1870-268_1870-267del (ATP7A)	ENSP00000509373.1:n.1870-268_1870-267del
ENST00000692110.1:c.1791_1792del (ATP7A)	ENSP00000509366.1:p.Gly598PhefsTer2
ENST00000692908.1:c.1875_1876del (ATP7A)	ENSP00000508627.1:p.Gly626PhefsTer2
ENST00000693398.1:c.1875_1876del (ATP7A)	ENSP00000510089.1:p.Gly626PhefsTer2
ENST00000341514.11:c.1875_1876del (ATP7A) MANE Select	ENSP00000345728.6:p.Gly626PhefsTer2
ENST00000644362.1:c.-19-98686_-19-98685del (PGK1)	ENSP00000496140.1:n.-19-98686_-19-98685de...
ENST00000645094.1:c.*1789_*1790del (ATP7A)	ENSP00000493605.1:n.*1789_*1790del
ENST00000341514.10:c.1875_1876del (ATP7A)	ENSP00000345728.6:p.Gly626PhefsTer2
ENST00000343533.9:c.1875_1876del (ATP7A)	ENSP00000343026.5:p.Gly626PhefsTer2
ENST00000350425.5:c.*1048_*1049del (ATP7A)	ENSP00000343678.5:n.*1048_*1049del
NM_000052.6:c.1875_1876del (ATP7A)	NP_000043.4:p.Gly626PhefsTer2
NM_001282224.1:c.1875_1876del (ATP7A)	NP_001269153.1:p.Gly626PhefsTer2
NR_104109.1:n.322-20219_322-20218del (ATP7A)
NM_000052.7:c.1875_1876del (ATP7A) MANE Select	NP_000043.4:p.Gly626PhefsTer2
NR_104109.2:n.285-20219_285-20218del (ATP7A)
NM_001282224.2:c.1875_1876del (ATP7A)	NP_001269153.1:p.Gly626PhefsTer2